Variant report

Variant	nsv427941
Chromosome Location	chr1:224085052-224363163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4864)
CpG islands
(count:1836)
Chromatin interactive
region (count:166)
LncRNA
region (count:53)
Mature miRNA
region (count: 0)
miRNA target
sites (count:22)

(count:4864 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:224301619-224301939	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:224200105-224202376	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:224255367-224255884	K562	blood:	n/a	chr1:224255852-224255868
4	ARID3A	chr1:224356635-224356885	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:224348895-224348945	K562	blood:	n/a	n/a
6	ARID3A	chr1:224119208-224119671	K562	blood:	n/a	n/a
7	ARID3A	chr1:224124412-224124623	K562	blood:	n/a	n/a
8	ARID3A	chr1:224347558-224348486	K562	blood:	n/a	n/a
9	ARID3A	chr1:224267887-224268216	K562	blood:	n/a	n/a
10	ARID3A	chr1:224238457-224238876	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:224238520-224238874	K562	blood:	n/a	n/a
12	ARID3A	chr1:224203577-224204130	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:224225266-224225295	K562	blood:	n/a	n/a
14	ARID3A	chr1:224180236-224180463	HepG2	liver:	n/a	n/a
15	ARID3A	chr1:224303903-224304174	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:224346913-224347184	K562	blood:	n/a	n/a
17	ARID3A	chr1:224303815-224304188	K562	blood:	n/a	n/a
18	ATF1	chr1:224249130-224249535	K562	blood:	n/a	n/a
19	ATF1	chr1:224201408-224202650	K562	blood:	n/a	n/a
20	ATF1	chr1:224255312-224255886	K562	blood:	n/a	n/a
21	ATF1	chr1:224200184-224201129	K562	blood:	n/a	n/a
22	ATF1	chr1:224301535-224302038	K562	blood:	n/a	n/a
23	ATF1	chr1:224119207-224119478	K562	blood:	n/a	n/a
24	ATF1	chr1:224267843-224268336	K562	blood:	n/a	n/a
25	ATF1	chr1:224203501-224203872	K562	blood:	n/a	n/a
26	ATF1	chr1:224180104-224180596	K562	blood:	n/a	n/a
27	ATF1	chr1:224347745-224348391	K562	blood:	n/a	n/a
28	ATF2	chr1:224301504-224302054	GM12878	blood:	n/a	n/a
29	ATF2	chr1:224180111-224180616	GM12878	blood:	n/a	chr1:224180344-224180355
30	ATF2	chr1:224180121-224180542	GM12878	blood:	n/a	chr1:224180344-224180355
31	ATF2	chr1:224301440-224302008	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr1:224180114-224180475	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
33	ATF2	chr1:224356684-224357215	GM12878	blood:	n/a	n/a
34	ATF2	chr1:224180127-224180483	H1-hESC	embryonic stem cell:	n/a	chr1:224180344-224180355
35	ATF2	chr1:224356580-224357133	GM12878	blood:	n/a	n/a
36	ATF2	chr1:224301511-224301987	GM12878	blood:	n/a	n/a
37	ATF3	chr1:224180177-224180522	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
38	ATF3	chr1:224358911-224359210	K562	blood:	n/a	n/a
39	ATF3	chr1:224358953-224359106	K562	blood:	n/a	n/a
40	ATF3	chr1:224180142-224180506	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
41	ATF3	chr1:224301524-224302079	A549	lung:	n/a	n/a
42	ATF3	chr1:224180201-224180512	H1-hESC	embryonic stem cell:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
43	ATF3	chr1:224267739-224268148	K562	blood:	n/a	n/a
44	ATF3	chr1:224180121-224180536	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
45	ATF3	chr1:224180187-224180478	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
46	ATF3	chr1:224180172-224180501	HepG2	liver:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
47	ATF3	chr1:224180214-224180405	GM12878	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
48	ATF3	chr1:224180154-224180502	K562	blood:	n/a	chr1:224180346-224180356 chr1:224180334-224180354 chr1:224180359-224180379 chr1:224180342-224180355 chr1:224180344-224180355 chr1:224180346-224180356 chr1:224180344-224180355 chr1:224180343-224180356 chr1:224180346-224180354 chr1:224180345-224180353 chr1:224180346-224180353 chr1:224180293-224180306 chr1:224180342-224180357
49	BACH1	chr1:224358938-224359145	K562	blood:	n/a	n/a
50	BACH1	chr1:224249796-224249811	K562	blood:	n/a	n/a

(count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224351941-224351991	HCM	heart:	n/a
2	chr1:224252086-224252136	HIPEpiC	eye:	n/a
3	chr1:224300718-224300768	SK-N-SH_RA	brain:	n/a
4	chr1:224302350-224302400	MCF10A-Er-Src	breast:	n/a
5	chr1:224302109-224302159	HIPEpiC	eye:	n/a
6	chr1:224302109-224302159	ovcar-3	ovarian:	n/a
7	chr1:224351941-224351991	HCM	heart:	n/a
8	chr1:224252086-224252136	HIPEpiC	eye:	n/a
9	chr1:224300718-224300768	SK-N-SH_RA	brain:	n/a
10	chr1:224302350-224302400	MCF10A-Er-Src	breast:	n/a
11	chr1:224302109-224302159	HIPEpiC	eye:	n/a
12	chr1:224302109-224302159	ovcar-3	ovarian:	n/a
13	chr1:224222745-224222795	MCF10A-Er-Src	breast:	n/a
14	chr1:224301382-224301432	T-47D	breast:	n/a
15	chr1:224357281-224357331	AG04449	skin:	fetal
16	chr1:224222745-224222795	IMR90	lung:	fetal
17	chr1:224302350-224302400	ovcar-3	ovarian:	n/a
18	chr1:224177126-224177176	AG09309	skin:	n/a
19	chr1:224180516-224180566	ovcar-3	ovarian:	n/a
20	chr1:224300492-224300542	Jurkat	blood:	n/a
21	chr1:224302019-224302069	HMEC	breast:	n/a
22	chr1:224301953-224302003	CMK	blood:	n/a
23	chr1:224301701-224301751	HCM	heart:	n/a
24	chr1:224302109-224302159	HepG2	liver:	n/a
25	chr1:224222745-224222795	GM06990	blood:	n/a
26	chr1:224299133-224299183	NB4	blood:	n/a
27	chr1:224302019-224302069	AG04449	skin:	fetal
28	chr1:224303989-224304039	RPTEC	kidney:	n/a
29	chr1:224302109-224302159	SK-N-MC	brain:	n/a
30	chr1:224180302-224180352	BE2_C	brain:	n/a
31	chr1:224301701-224301751	T-47D	breast:	n/a
32	chr1:224302350-224302400	AG10803	skin:	n/a
33	chr1:224222745-224222795	AG09309	skin:	n/a
34	chr1:224300492-224300542	MCF10A-Er-Src	breast:	n/a
35	chr1:224222745-224222795	AG09319	gingival:	n/a
36	chr1:224179665-224179715	PrEC	prostate:	n/a
37	chr1:224136349-224136399	HCT-116	colon:	n/a
38	chr1:224224049-224224099	HepG2	liver:	n/a
39	chr1:224301953-224302003	HEEpiC	esophagus:	n/a
40	chr1:224136349-224136399	HEK293	kidney:	embryo
41	chr1:224179665-224179715	MCF10A-Er-Src	breast:	n/a
42	chr1:224351941-224351991	PANC-1	pancreas:	n/a
43	chr1:224302109-224302159	HNPCEpiC	eye:	n/a
44	chr1:224177126-224177176	ProgFib	skin:	n/a
45	chr1:224252086-224252136	Hela-S3	cervix:	n/a
46	chr1:224180444-224180494	AG10803	skin:	n/a
47	chr1:224179665-224179715	H1-hESC	embryonic stem cell:	embryo
48	chr1:224177126-224177176	AG10803	skin:	n/a
49	chr1:224302360-224302410	Hepatocyte	liver:	n/a
50	chr1:224252086-224252136	GM12892	blood:	n/a

(count:166 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:224293723..224297684-chr1:224300401..224303649,6	MCF-7	breast:
2	chr1:224301518..224303239-chr1:224517881..224519939,3	K562	blood:
3	chr1:224296083..224298373-chr1:224302570..224304923,2	K562	blood:
4	chr1:224266188..224269599-chr1:224300426..224303671,3	MCF-7	breast:
5	chr1:224363073..224364083-chr8:102217577..102218188,4	MCF-7	breast:
6	chr1:224348058..224350324-chr1:224351208..224354224,4	K562	blood:
7	chr1:223900030..223900536-chr1:224108678..224109196,2	K562	blood:
8	chr1:224178905..224181889-chr1:224301318..224303879,2	MCF-7	breast:
9	chr1:224279837..224282233-chr1:224286531..224288964,2	K562	blood:
10	chr1:224240269..224242100-chr1:224243386..224246178,2	K562	blood:
11	chr1:224244471..224246198-chr1:224247592..224249226,2	K562	blood:
12	chr1:224268304..224270185-chr1:224270606..224273026,2	K562	blood:
13	chr1:224303004..224305617-chr1:224499691..224501422,2	K562	blood:
14	chr1:224344124..224346422-chr1:224442860..224444881,2	MCF-7	breast:
15	chr1:224305830..224307987-chr1:224312983..224315689,3	K562	blood:
16	chr1:224273399..224275055-chr1:224276252..224278260,2	K562	blood:
17	chr1:224261436..224263371-chr1:224265323..224267984,2	K562	blood:
18	chr1:224295165..224298323-chr1:224300188..224302946,3	K562	blood:
19	chr1:224252218..224254539-chr1:224278231..224280105,2	K562	blood:
20	chr1:224249439..224252830-chr1:224300873..224303408,3	MCF-7	breast:
21	chr1:224347222..224350082-chr1:224351208..224355016,4	K562	blood:
22	chr1:224238624..224240170-chr1:224243287..224246232,2	K562	blood:
23	chr1:224275496..224277089-chr1:224283466..224285697,2	MCF-7	breast:
24	chr1:224254185..224256416-chr1:224258081..224260158,2	K562	blood:
25	chr1:224237251..224240101-chr1:224270506..224273233,2	K562	blood:
26	chr1:224300672..224304210-chr1:224370293..224374026,4	K562	blood:
27	chr1:224334889..224338444-chr1:224339776..224343070,5	K562	blood:
28	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:
29	chr1:224231878..224234198-chr1:224234605..224237378,2	K562	blood:
30	chr1:224313817..224316131-chr1:224691933..224694076,2	MCF-7	breast:
31	chr1:224311481..224313770-chr1:224348020..224349577,2	K562	blood:
32	chr1:224257733..224260282-chr1:224271345..224273145,2	K562	blood:
33	chr1:224305830..224307987-chr1:224312983..224315689,3	K562	blood:
34	chr1:224293723..224297684-chr1:224300401..224303649,6	MCF-7	breast:
35	chr1:224319528..224321607-chr1:224321881..224324191,2	K562	blood:
36	chr1:224301735..224302364-chr6:151668046..151668566,2	MCF-7	breast:
37	chr1:224257733..224260282-chr1:224271345..224273145,2	K562	blood:
38	chr1:224247719..224250710-chr1:224272098..224273883,2	K562	blood:
39	chr1:224311481..224313770-chr1:224348020..224349577,2	K562	blood:
40	chr1:224268838..224270432-chr1:224272219..224274872,2	K562	blood:
41	chr1:224301710..224303849-chr1:224308917..224310685,2	MCF-7	breast:
42	chr1:224293664..224295656-chr1:224296993..224299236,2	K562	blood:
43	chr1:224268838..224270432-chr1:224272219..224274872,2	K562	blood:
44	chr1:224256423..224258473-chr1:224272046..224275007,2	MCF-7	breast:
45	chr1:224239914..224241769-chr1:224243528..224246178,2	K562	blood:
46	chr1:224256423..224258473-chr1:224272046..224275007,2	MCF-7	breast:
47	chr1:224312506..224315473-chr1:224345868..224347563,2	K562	blood:
48	chr1:224303666..224304411-chr1:224645043..224645567,2	K562	blood:
49	chr1:224307549..224310401-chr1:224320612..224322134,2	K562	blood:
50	chr1:224240818..224242542-chr1:224514996..224517845,2	K562	blood:

(count:53 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO28-3	chr1:224247660-224247846	NONHSAT009770
2	lnc-FBXO28-1	chr1:224183659-224183796	ENSG00000185495.6
3	lnc-TP53BP2-6	chr1:224172084-224172141	NONHSAT009757
4	lnc-TP53BP2-7	chr1:224221175-224221224	NONHSAT009769
5	lnc-FBXO28-1	chr1:224190224-224190324	NONHSAT009761
6	lnc-TP53BP2-4	chr1:224150312-224150411	NONHSAT009754
7	lnc-PARP1-3	chr1:224098433-224099085	expRegAs_chr1_21128_-
8	lnc-DEGS1-2	chr1:224344549-224344616	NONHSAT009774
9	lnc-PARP1-4	chr1:224096672-224097019	expRegAs_chr1_21127_-
10	lnc-TP53BP2-4	chr1:224148701-224148934	NONHSAT009753
11	lnc-DEGS1-2	chr1:224341205-224341378	NONHSAT009774
12	lnc-TP53BP2-7	chr1:224218406-224218498	NONHSAT009769
13	lnc-FBXO28-4	chr1:224217383-224217533	NONHSAT009768
14	lnc-FBXO28-4	chr1:224219818-224220034	NONHSAT009766
15	lnc-DEGS1-2	chr1:224343814-224343978	NONHSAT009774
16	lnc-FBXO28-4	chr1:224222257-224222380	NONHSAT009767
17	lnc-TP53BP2-1	chr1:224159276-224159470	XLOC_001223
18	lnc-TP53BP2-3	chr1:224139722-224139941	NONHSAT009752
19	lnc-FBXO28-1	chr1:224190017-224190324	NONHSAT009760
20	lnc-FBXO28-1	chr1:224191222-224191356	NONHSAT009761
21	lnc-FBXO28-4	chr1:224216253-224216275	NONHSAT009767
22	lnc-TP53BP2-6	chr1:224170893-224170987	NONHSAT009756
23	lnc-FBXO28-1	chr1:224191211-224191356	NONHSAT009764
24	lnc-FBXO28-4	chr1:224216293-224216829	NONHSAT009768
25	lnc-TP53BP2-6	chr1:224170456-224170544	NONHSAT009756
26	lnc-FBXO28-4	chr1:224216529-224216829	NONHSAT009766
27	lnc-FBXO28-4	chr1:224216253-224216275	NONHSAT009766
28	lnc-FBXO28-1	chr1:224191222-224191356	ENSG00000185495.6
29	lnc-TP53BP2-7	chr1:224222656-224222758	NONHSAT009769
30	lnc-NVL-3	chr1:224298465-224298709	XLOC_001224
31	lnc-FBXO28-4	chr1:224216529-224216829	NONHSAT009767
32	lnc-NVL-9	chr1:224294984-224295243	NONHSAT009772
33	lnc-NVL-3	chr1:224284517-224284923	XLOC_001224
34	lnc-FBXO28-1	chr1:224196429-224198309	ENSG00000185495.6
35	lnc-FBXO28-1	chr1:224194996-224195119	NONHSAT009763
36	lnc-TP53BP2-4	chr1:224149779-224150142	NONHSAT009753
37	lnc-FBXO28-1	chr1:224196429-224198314	ENSG00000263182.1
38	lnc-FBXO28-1	chr1:224197022-224197069	NONHSAT009760
39	lnc-TP53BP2-6	chr1:224175747-224175856	NONHSAT009756
40	lnc-FBXO28-1	chr1:224191295-224191356	NONHSAT009760
41	lnc-FBXO28-1	chr1:224189609-224191356	NONHSAT009763
42	lnc-FBXO28-3	chr1:224246570-224246652	NONHSAT009770
43	lnc-FBXO28-1	chr1:224180714-224180749	NONHSAT009760
44	lnc-TP53BP2-1	chr1:224151308-224152241	XLOC_001223
45	lnc-TP53BP2-6	chr1:224170584-224170818	NONHSAT009757
46	lnc-FBXO28-1	chr1:224197022-224197818	NONHSAT009763
47	lnc-FBXO28-1	chr1:224190224-224190324	ENSG00000185495.6
48	lnc-TP53BP2-6	chr1:224170898-224170987	NONHSAT009757
49	lnc-TP53BP2-6	chr1:224174277-224174342	NONHSAT009756
50	lnc-FBXO28-1	chr1:224197022-224197405	ENSG00000185495.6

No data

(count:22 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	FBXO28	hsa-miR-130b-3p	chr1:224346650-224346656
2	FBXO28	hsa-miR-130b-3p	chr1:224346690-224346696
3	FBXO28	hsa-miR-132-3p	chr1:224346833-224346840
4	FBXO28	hsa-miR-148b-3p	chr1:224346144-224346161
5	FBXO28	hsa-miR-130b-3p	chr1:224346153-224346159
6	FBXO28	hsa-miR-19b-3p	chr1:224346634-224346656
7	FBXO28	hsa-miR-148b-3p	chr1:224346154-224346160
8	FBXO28	hsa-miR-148b-3p	chr1:224346691-224346697
9	FBXO28	hsa-miR-221-3p	chr1:224348534-224348556
10	FBXO28	hsa-miR-32-5p	chr1:224345646-224345652
11	FBXO28	hsa-miR-130b-3p	chr1:224346638-224346657
12	FBXO28	hsa-miR-221-3p	chr1:224346806-224346828
13	FBXO28	hsa-miR-132-3p	chr1:224345154-224345173
14	FBXO28	hsa-miR-17-5p	chr1:224348715-224348737
15	FBXO28	hsa-miR-17-5p	chr1:224348730-224348737
16	FBXO28	hsa-miR-148b-3p	chr1:224346678-224346698
17	FBXO28	hsa-miR-130b-3p	chr1:224348674-224348694
18	FBXO28	hsa-miR-26b-5p	chr1:224345572-224345578
19	FBXO28	hsa-miR-26b-5p	chr1:224345828-224345834
20	FBXO28	hsa-miR-130b-3p	chr1:224348687-224348694
21	FBXO28	hsa-miR-19b-3p	chr1:224346649-224346655
22	FBXO28	hsa-miR-132-3p	chr1:224346816-224346840

Variant related genes	Relation type
ENSG00000232372	TF binding region
RN7SKP49	TF binding region
ENSG00000263182	TF binding region
ENSG00000243000	TF binding region
ENSG00000201898	TF binding region
ENSG00000269358	TF binding region
DEGS1	TF binding region
CICP5	TF binding region
ENSG00000185495	TF binding region
ENSG00000229930	TF binding region
ENSG00000272645	TF binding region
RNU6-1319P	TF binding region
FBXO28	TF binding region
ENSG00000232372	CpG island
RN7SKP49	CpG island
ENSG00000263182	CpG island
ENSG00000243000	CpG island
ENSG00000201898	CpG island
ENSG00000269358	CpG island
DEGS1	CpG island
CICP5	CpG island
ENSG00000185495	CpG island
ENSG00000229930	CpG island
ENSG00000272645	CpG island
RNU6-1319P	CpG island
FBXO28	CpG island
ENSG00000265565	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000143756	chromatin interactions
ENSG00000125971	chromatin interactions
ENSG00000221406	chromatin interactions
ENSG00000162909	chromatin interactions
ENSG00000143748	chromatin interactions
ENSG00000075131	chromatin interactions
ENSG00000143771	chromatin interactions
ENSG00000143753	chromatin interactions
ENSG00000201898	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000162923	chromatin interactions
ENSG00000252484	chromatin interactions
ENSG00000143786	chromatin interactions
ENSG00000238939	chromatin interactions
WNT5B	miRNA target sites
AHCYL2	miRNA target sites

Extended variants
information (count: 8823 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:8823 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4274023	chr1:224085076-224085077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547336854	chr1:224085086-224085087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565984525	chr1:224085101-224085102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536181887	chr1:224085148-224085149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554786668	chr1:224085166-224085167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61823622	chr1:224085168-224085169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576352988	chr1:224085227-224085228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548942303	chr1:224085236-224085237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537097905	chr1:224085241-224085242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1824611	chr1:224085255-224085256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576876903	chr1:224085299-224085300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1825696	chr1:224085322-224085323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3872189	chr1:224085336-224085337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182888697	chr1:224085356-224085357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575063957	chr1:224085357-224085358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542200706	chr1:224085358-224085359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563535752	chr1:224085369-224085370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4102658	chr1:224085371-224085372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3872188	chr1:224085430-224085431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553499464	chr1:224085451-224085452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3905211	chr1:224085511-224085512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531010642	chr1:224085557-224085558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367721720	chr1:224085559-224085560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2085953	chr1:224085608-224085609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2085954	chr1:224085636-224085637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377320866	chr1:224085652-224085653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573089254	chr1:224085659-224085660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142100667	chr1:224085671-224085672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56075662	chr1:224085672-224085673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199911922	chr1:224085675-224085676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74776611	chr1:224085676-224085677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200339712	chr1:224085677-224085678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1809316	chr1:224085680-224085681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546950794	chr1:224085681-224085682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568396282	chr1:224085682-224085683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141814495	chr1:224085688-224085689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146372750	chr1:224085694-224085695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562381146	chr1:224085698-224085699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537258899	chr1:224085761-224085762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9283407	chr1:224085779-224085780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570507676	chr1:224085780-224085781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534456865	chr1:224085826-224085827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552926411	chr1:224085842-224085843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574394701	chr1:224085861-224085862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531081596	chr1:224085870-224085871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557238441	chr1:224085937-224085938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575396636	chr1:224085947-224085948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375474110	chr1:224085963-224085964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369954567	chr1:224086022-224086023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564366991	chr1:224086088-224086089	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	17060936	CNVD
Ewing''s sarcoma	19144156	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3247 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224077400-224085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224084000-224085600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:224084800-224086400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:224085000-224086000	Weak transcription	Psoas Muscle	Psoas
5	chr1:224085400-224087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:224085600-224086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224086000-224086400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224086000-224086400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:224086000-224086400	Enhancers	Psoas Muscle	Psoas
10	chr1:224086000-224086400	Enhancers	NHDF-Ad	bronchial
11	chr1:224086200-224087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:224087600-224087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:224087600-224087800	Enhancers	Fetal Muscle Leg	muscle
14	chr1:224094400-224094600	Enhancers	Fetal Thymus	thymus
15	chr1:224094400-224095200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:224094600-224095600	Weak transcription	Fetal Thymus	thymus
17	chr1:224095600-224096200	Enhancers	Fetal Thymus	thymus
18	chr1:224096000-224096200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:224096200-224097400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:224097400-224099600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:224097800-224099000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:224099000-224100600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:224099600-224101600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:224100600-224102000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:224101600-224102000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:224119200-224119600	Enhancers	K562	blood
27	chr1:224135800-224149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:224136200-224139400	Weak transcription	Fetal Intestine Small	intestine
29	chr1:224136400-224179800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:224136600-224149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:224137200-224138600	Weak transcription	Fetal Stomach	stomach
32	chr1:224137600-224139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:224137800-224139400	Weak transcription	Adipose Nuclei	Adipose
34	chr1:224137800-224139400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:224137800-224139400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr1:224137800-224139400	Weak transcription	Placenta	Placenta
37	chr1:224137800-224139400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:224137800-224139400	Weak transcription	Spleen	Spleen
39	chr1:224137800-224160600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:224138000-224139400	Weak transcription	Lung	lung
41	chr1:224138000-224139600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:224138000-224139600	Weak transcription	Ovary	ovary
43	chr1:224138000-224140000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:224138000-224141000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:224138000-224148200	Weak transcription	Liver	Liver
46	chr1:224138000-224162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:224138000-224163800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:224138000-224170000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:224138000-224179600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:224138200-224149800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links