Variant report

Variant	esv2422249
Chromosome Location	chr3:20163608-20626956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2889)
CpG islands
(count:1773)
Chromatin interactive
region (count:186)
LncRNA
region (count:23)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:2889 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
2	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
3	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
4	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
7	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
8	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
9	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
11	ARID3A	chr3:20394102-20394581	K562	blood:	n/a	n/a
12	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
13	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
14	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
15	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
16	ATF1	chr3:20521702-20521870	K562	blood:	n/a	n/a
17	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
18	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
19	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
20	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
21	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
22	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
25	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
26	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
27	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
29	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
30	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
31	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
33	ATF3	chr3:20394287-20394634	K562	blood:	n/a	n/a
34	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
35	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
37	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
38	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
39	BACH1	chr3:20535546-20535645	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr3:20492146-20492486	K562	blood:	n/a	n/a
41	BACH1	chr3:20492139-20492474	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr3:20616608-20616882	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr3:20536253-20536368	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr3:20394395-20394609	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
46	BACH1	chr3:20394371-20394578	K562	blood:	n/a	n/a
47	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
48	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
49	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301
50	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a

(count:1773 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20522301-20522351	HRPEpiC	eye:	n/a
2	chr3:20228976-20229026	HMEC	breast:	n/a
3	chr3:20589671-20589721	Hepatocyte	liver:	n/a
4	chr3:20227809-20227859	MCF10A-Er-Src	breast:	n/a
5	chr3:20522301-20522351	HRPEpiC	eye:	n/a
6	chr3:20228976-20229026	HMEC	breast:	n/a
7	chr3:20589671-20589721	Hepatocyte	liver:	n/a
8	chr3:20227809-20227859	MCF10A-Er-Src	breast:	n/a
9	chr3:20412342-20412392	SK-N-SH	brain:	n/a
10	chr3:20522301-20522351	AG04450	lung:	fetal
11	chr3:20227663-20227713	HCT-116	colon:	n/a
12	chr3:20227397-20227447	NHDF-neo	bronchial:	n/a
13	chr3:20226994-20227044	GM12878	blood:	n/a
14	chr3:20202403-20202453	H1-hESC	embryonic stem cell:	embryo
15	chr3:20223923-20223973	GM12878	blood:	n/a
16	chr3:20226964-20227014	HAEpiC	amniotic membrane:	n/a
17	chr3:20227059-20227109	AG04449	skin:	fetal
18	chr3:20227091-20227141	ovcar-3	ovarian:	n/a
19	chr3:20321584-20321634	AG04449	skin:	fetal
20	chr3:20412342-20412392	GM06990	blood:	n/a
21	chr3:20227091-20227141	HEEpiC	esophagus:	n/a
22	chr3:20589760-20589810	HRPEpiC	eye:	n/a
23	chr3:20228976-20229026	HIPEpiC	eye:	n/a
24	chr3:20231061-20231111	GM19239	blood:	n/a
25	chr3:20589760-20589810	Hepatocyte	liver:	n/a
26	chr3:20522301-20522351	HAEpiC	amniotic membrane:	n/a
27	chr3:20227516-20227566	GM12878	blood:	n/a
28	chr3:20202403-20202453	HCT-116	colon:	n/a
29	chr3:20418856-20418906	Jurkat	blood:	n/a
30	chr3:20223923-20223973	Caco-2	colon:	n/a
31	chr3:20226964-20227014	GM12892	blood:	n/a
32	chr3:20183665-20183715	ProgFib	skin:	n/a
33	chr3:20227059-20227109	PANC-1	pancreas:	n/a
34	chr3:20522301-20522351	LNCaP	prostate:	n/a
35	chr3:20371290-20371340	SK-N-MC	brain:	n/a
36	chr3:20575513-20575563	AG04449	skin:	fetal
37	chr3:20321584-20321634	SKMC	muscle:	n/a
38	chr3:20321584-20321634	LNCaP	prostate:	n/a
39	chr3:20231061-20231111	AG04449	skin:	fetal
40	chr3:20227809-20227859	HUVEC	blood vessel:	n/a
41	chr3:20227397-20227447	HUVEC	blood vessel:	n/a
42	chr3:20226964-20227014	SK-N-MC	brain:	n/a
43	chr3:20575513-20575563	HRPEpiC	eye:	n/a
44	chr3:20227397-20227447	T-47D	breast:	n/a
45	chr3:20227397-20227447	HRE	kidney:	n/a
46	chr3:20412342-20412392	CMK	blood:	n/a
47	chr3:20227516-20227566	T-47D	breast:	n/a
48	chr3:20226964-20227014	NH-A	brain:	n/a
49	chr3:20227670-20227720	SK-N-SH	brain:	n/a
50	chr3:20227663-20227713	HNPCEpiC	eye:	n/a

(count:186 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:20364762..20367629-chr3:20378813..20381206,2	K562	blood:
2	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
3	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
4	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
5	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
6	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
7	chr3:20269133..20272394-chr3:20272728..20275710,3	K562	blood:
8	chr3:20618172..20620795-chr3:20622169..20624863,2	MCF-7	breast:
9	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:
10	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
11	chr3:20094893..20096727-chr3:20227964..20230863,2	MCF-7	breast:
12	chr3:20618172..20620795-chr3:20622169..20624863,2	MCF-7	breast:
13	chr3:20079693..20081472-chr3:20203928..20206383,2	K562	blood:
14	chr3:20201533..20203572-chr3:20204589..20206739,2	K562	blood:
15	chr2:97426251..97427245-chr3:20227662..20228331,2	Hela-S3	cervix:
16	chr3:20080586..20082828-chr3:20216112..20219264,3	K562	blood:
17	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
18	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
19	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
20	chr3:19987745..19989859-chr3:20175809..20177957,2	K562	blood:
21	chr3:20161536..20163874-chr3:20167611..20170613,5	K562	blood:
22	chr3:20202636..20204189-chr3:20204811..20206613,2	MCF-7	breast:
23	chr3:20342900..20345810-chr3:20347041..20349478,2	K562	blood:
24	chr3:20211282..20213997-chr3:20225429..20228054,3	MCF-7	breast:
25	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
26	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
27	chr3:20275707..20278612-chr3:20280261..20282928,2	K562	blood:
28	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
29	chr3:20080018..20082340-chr3:20176608..20178833,2	K562	blood:
30	chr3:20577616..20580422-chr3:20581225..20583967,3	K562	blood:
31	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
32	chr3:20195318..20197314-chr3:20202622..20204510,2	MCF-7	breast:
33	chr3:20197490..20199260-chr3:20227955..20230018,2	K562	blood:
34	chr3:20187588..20190106-chr3:20193535..20195392,3	K562	blood:
35	chr3:20358544..20361265-chr3:20365566..20368705,3	K562	blood:
36	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:
37	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
38	chr3:20191414..20193219-chr3:20194880..20197331,2	K562	blood:
39	chr3:20384572..20387306-chr3:20389164..20391622,2	K562	blood:
40	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
41	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
42	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
43	chr3:20186107..20188316-chr3:20191004..20193087,2	MCF-7	breast:
44	chr3:19987690..19991206-chr3:20220694..20223940,3	MCF-7	breast:
45	chr3:19987439..19992261-chr3:20226257..20229350,4	K562	blood:
46	chr3:20223638..20225446-chr3:20225885..20227918,2	MCF-7	breast:
47	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
48	chr3:20553071..20554107-chr3:20781207..20782086,3	MCF-7	breast:
49	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
50	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
2	lnc-KAT2B-2	chr3:20389489-20389501	XLOC_002595
3	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
4	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1
5	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
6	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
7	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
8	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595
9	lnc-KAT2B-2	chr3:20389489-20389581	XLOC_002595
10	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
11	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
12	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
13	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
14	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
15	lnc-KAT2B-2	chr3:20389488-20389501	NONHSAT088622
16	lnc-KAT2B-2	chr3:20392207-20392420	XLOC_002595
17	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
18	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
19	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
20	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
21	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
22	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1
23	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
2	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390
3	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
4	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
5	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
6	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
7	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
8	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
9	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
10	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
11	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
12	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
13	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
14	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772

Variant related genes	Relation type
KAT2B	TF binding region
RNU6-815P	TF binding region
MIR3135A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
ENSG00000261734	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
RNU6-815P	CpG island
MIR3135A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
ENSG00000261734	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000214013	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000163576	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000206807	chromatin interactions

Extended variants
information (count: 14177 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:14177 , 50 per page) page: 1 2 3 4 5 6 7 ... 284

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187276504	chr3:20163617-20163618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374072406	chr3:20163642-20163643	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55783650	chr3:20163655-20163656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532589688	chr3:20163656-20163657	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74983402	chr3:20163671-20163672	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577124691	chr3:20163719-20163720	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79991131	chr3:20163736-20163737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552318950	chr3:20163739-20163740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs76748926	chr3:20163751-20163752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542423766	chr3:20163798-20163799	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563908849	chr3:20163815-20163816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143397346	chr3:20163855-20163856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113456299	chr3:20163868-20163869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115722607	chr3:20163869-20163870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532122029	chr3:20163905-20163906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547121253	chr3:20163924-20163925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572229020	chr3:20164010-20164011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189306316	chr3:20164034-20164035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373253108	chr3:20164114-20164115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200876804	chr3:20164127-20164128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199552217	chr3:20164145-20164146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114528005	chr3:20164156-20164157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368666068	chr3:20164157-20164158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144806388	chr3:20164175-20164176	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs146721823	chr3:20164184-20164185	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377475879	chr3:20164230-20164231	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577306981	chr3:20164232-20164233	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373525362	chr3:20164247-20164248	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs149881135	chr3:20164248-20164249	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201839892	chr3:20164249-20164250	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553434368	chr3:20164252-20164253	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575172601	chr3:20164258-20164259	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144875299	chr3:20164268-20164269	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs41285059	chr3:20164282-20164283	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9310610	chr3:20164330-20164331	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9884012	chr3:20164336-20164337	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3828350	chr3:20164481-20164482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564985828	chr3:20164516-20164517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532133428	chr3:20164529-20164530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148858343	chr3:20164567-20164568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565302751	chr3:20164604-20164605	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7624514	chr3:20164616-20164617	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs35841175	chr3:20164642-20164643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs569625427	chr3:20164649-20164650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537241449	chr3:20164650-20164651	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7647320	chr3:20164651-20164652	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570905414	chr3:20164656-20164657	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12636894	chr3:20164667-20164668	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553520505	chr3:20164668-20164669	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372624950	chr3:20164675-20164676	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2338 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:20135200-20173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:20139000-20164000	Weak transcription	Small Intestine	intestine
5	chr3:20141200-20167400	Weak transcription	HSMMtube	muscle
6	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
8	chr3:20147400-20169600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:20147600-20194200	Weak transcription	Dnd41	blood
10	chr3:20148000-20167000	Weak transcription	GM12878-XiMat	blood
11	chr3:20150800-20166200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
13	chr3:20151200-20179000	Weak transcription	Fetal Kidney	kidney
14	chr3:20151600-20175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:20152000-20182800	Weak transcription	Colonic Mucosa	Colon
16	chr3:20152600-20175200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:20152800-20170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:20152800-20175000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr3:20152800-20176200	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:20153400-20167200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:20153600-20169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:20154000-20178400	Weak transcription	Psoas Muscle	Psoas
23	chr3:20154400-20164400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:20157000-20163800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr3:20157000-20165800	Weak transcription	Lung	lung
26	chr3:20157000-20165800	Weak transcription	Pancreas	Pancrea
27	chr3:20157000-20167200	Weak transcription	K562	blood
28	chr3:20157000-20178800	Weak transcription	HUVEC	blood vessel
29	chr3:20158000-20172400	Weak transcription	Fetal Brain Female	brain
30	chr3:20158800-20164000	Weak transcription	Ovary	ovary
31	chr3:20158800-20164200	Weak transcription	Placenta	Placenta
32	chr3:20158800-20169200	Weak transcription	Spleen	Spleen
33	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:20159400-20163800	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:20159400-20164000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:20159400-20164200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr3:20159600-20164200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:20159600-20164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:20160200-20166200	Strong transcription	Primary B cells from cord blood	blood
40	chr3:20160200-20170200	Strong transcription	Primary T cells from cord blood	blood
41	chr3:20160200-20170200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:20160400-20164800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:20160400-20166000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:20160400-20169400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:20160400-20171800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:20160400-20182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:20160600-20166000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr3:20160600-20175400	Strong transcription	Liver	Liver
49	chr3:20160600-20176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:20160800-20164600	Strong transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links