Variant report

Variant	esv1829847
Chromosome Location	chr3:20196923-20638228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2627)
CpG islands
(count:1650)
Chromatin interactive
region (count:169)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2627 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
2	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
3	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
5	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
6	ARID3A	chr3:20394102-20394581	K562	blood:	n/a	n/a
7	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
9	ARID3A	chr3:20630843-20631125	HepG2	liver:	n/a	n/a
10	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
11	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
12	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
13	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
14	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
15	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
16	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
17	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
18	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
19	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
20	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
21	ATF1	chr3:20521702-20521870	K562	blood:	n/a	n/a
22	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
25	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
26	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
28	ATF3	chr3:20394287-20394634	K562	blood:	n/a	n/a
29	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
30	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
31	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
32	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
33	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
36	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
37	BACH1	chr3:20535546-20535645	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr3:20492146-20492486	K562	blood:	n/a	n/a
39	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
40	BACH1	chr3:20536253-20536368	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr3:20616608-20616882	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
43	BACH1	chr3:20394395-20394609	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
45	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr3:20394371-20394578	K562	blood:	n/a	n/a
47	BACH1	chr3:20492139-20492474	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr3:20277379-20277647	GM12878	blood:	n/a	n/a
49	BATF	chr3:20416798-20417091	GM12878	blood:	n/a	n/a
50	BATF	chr3:20288158-20288422	GM12878	blood:	n/a	chr3:20288290-20288301

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20227091-20227141	MCF-7	breast:	n/a
2	chr3:20589760-20589810	K562	blood:	n/a
3	chr3:20575513-20575563	Hepatocyte	liver:	n/a
4	chr3:20227091-20227141	MCF-7	breast:	n/a
5	chr3:20589760-20589810	K562	blood:	n/a
6	chr3:20575513-20575563	Hepatocyte	liver:	n/a
7	chr3:20321584-20321634	SK-N-MC	brain:	n/a
8	chr3:20227940-20227990	NT2-D1	testis:	n/a
9	chr3:20589671-20589721	HAEpiC	amniotic membrane:	n/a
10	chr3:20522301-20522351	HRE	kidney:	n/a
11	chr3:20227091-20227141	LNCaP	prostate:	n/a
12	chr3:20227940-20227990	ECC-1	luminal epithelium:	n/a
13	chr3:20202403-20202453	MCF10A-Er-Src	breast:	n/a
14	chr3:20371290-20371340	SK-N-SH	brain:	n/a
15	chr3:20321584-20321634	GM12892	blood:	n/a
16	chr3:20223923-20223973	RPTEC	kidney:	n/a
17	chr3:20228976-20229026	NT2-D1	testis:	n/a
18	chr3:20227789-20227839	Jurkat	blood:	n/a
19	chr3:20226964-20227014	T-47D	breast:	n/a
20	chr3:20227809-20227859	PANC-1	pancreas:	n/a
21	chr3:20231061-20231111	Jurkat	blood:	n/a
22	chr3:20227789-20227839	HMEC	breast:	n/a
23	chr3:20575513-20575563	NH-A	brain:	n/a
24	chr3:20227091-20227141	HEK293	kidney:	embryo
25	chr3:20412342-20412392	GM12878	blood:	n/a
26	chr3:20223923-20223973	HNPCEpiC	eye:	n/a
27	chr3:20202403-20202453	HRCEpiC	kidney:	n/a
28	chr3:20321584-20321634	NT2-D1	testis:	n/a
29	chr3:20202403-20202453	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:20412342-20412392	HL-60	blood:	n/a
31	chr3:20412342-20412392	PFSK-1	brain:	n/a
32	chr3:20589760-20589810	T-47D	breast:	n/a
33	chr3:20227822-20227872	Caco-2	colon:	n/a
34	chr3:20227789-20227839	AoSMC	blood vessel:	n/a
35	chr3:20227397-20227447	RPTEC	kidney:	n/a
36	chr3:20589671-20589721	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:20231061-20231111	NB4	blood:	n/a
38	chr3:20575513-20575563	NHBE	bronchial:	n/a
39	chr3:20226964-20227014	IMR90	lung:	fetal
40	chr3:20202403-20202453	HUVEC	blood vessel:	n/a
41	chr3:20575513-20575563	AG10803	skin:	n/a
42	chr3:20231061-20231111	PrEC	prostate:	n/a
43	chr3:20522301-20522351	SK-N-MC	brain:	n/a
44	chr3:20321584-20321634	GM12878	blood:	n/a
45	chr3:20227801-20227851	NT2-D1	testis:	n/a
46	chr3:20227940-20227990	AG09309	skin:	n/a
47	chr3:20227940-20227990	SAEC	small airway:	n/a
48	chr3:20202403-20202453	ECC-1	luminal epithelium:	n/a
49	chr3:20226994-20227044	HMEC	breast:	n/a
50	chr3:20227670-20227720	AG10803	skin:	n/a

(count:169 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
2	chr3:20227400..20228150-chr9:16726744..16727510,2	Hela-S3	cervix:
3	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:
4	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
5	chr3:20219250..20222131-chr3:20228592..20230370,2	K562	blood:
6	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
7	chr3:20275707..20278612-chr3:20280261..20282928,2	K562	blood:
8	chr3:20363426..20365605-chr3:20367558..20369154,2	K562	blood:
9	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
10	chr3:20267223..20267887-chr3:21592292..21593221,2	MCF-7	breast:
11	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
12	chr3:20240283..20242142-chr3:20254913..20256935,2	K562	blood:
13	chr3:20195318..20197314-chr3:20202622..20204510,2	MCF-7	breast:
14	chr3:20335611..20337962-chr3:20339317..20341435,2	K562	blood:
15	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
16	chr3:20199507..20201505-chr3:20225585..20228159,2	MCF-7	breast:
17	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
18	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
19	chr1:211431812..211432720-chr3:20227589..20228353,2	Hela-S3	cervix:
20	chr3:20358544..20361265-chr3:20365566..20368705,3	K562	blood:
21	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
22	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
23	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
24	chr3:20381733..20382301-chr3:21331781..21332364,2	MCF-7	breast:
25	chr3:19987439..19992261-chr3:20226257..20229350,4	K562	blood:
26	chr3:20206092..20207782-chr3:20216460..20218892,2	K562	blood:
27	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
28	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
29	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
30	chr3:20226448..20228980-chr3:20231144..20234755,4	MCF-7	breast:
31	chr3:20080195..20082473-chr3:20238022..20239548,2	MCF-7	breast:
32	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
33	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
34	chr17:57920861..57923845-chr3:20581102..20583235,2	MCF-7	breast:
35	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
36	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
37	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:
38	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
39	chr3:20188319..20191715-chr3:20218902..20221810,3	K562	blood:
40	chr3:20266881..20267830-chr3:21935770..21936618,4	MCF-7	breast:
41	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
42	chr3:20384572..20387306-chr3:20389164..20391622,2	K562	blood:
43	chr3:20211282..20213997-chr3:20225429..20228054,3	MCF-7	breast:
44	chr3:20225377..20229978-chr3:20232761..20235716,5	K562	blood:
45	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
46	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
47	chr3:20275707..20278612-chr3:20280261..20282928,2	K562	blood:
48	chr3:20201533..20203572-chr3:20204589..20206739,2	K562	blood:
49	chr3:20384572..20387306-chr3:20389164..20391622,2	K562	blood:
50	chr3:20346246..20348359-chr3:20361269..20362788,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 13024 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:13024 , 50 per page) page: 1 2 3 4 5 6 7 ... 261

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2292228	chr3:20196923-20196924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34043929	chr3:20196930-20196931	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144993634	chr3:20196948-20196949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374251942	chr3:20196978-20196979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373921155	chr3:20197047-20197048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141611795	chr3:20197151-20197152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561632333	chr3:20197183-20197184	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534562201	chr3:20197185-20197186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533244677	chr3:20197213-20197214	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139326273	chr3:20197216-20197217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146195860	chr3:20197283-20197284	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569174190	chr3:20197338-20197339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533086746	chr3:20197345-20197346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2292227	chr3:20197364-20197365	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2292226	chr3:20197378-20197379	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533996195	chr3:20197472-20197473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185530425	chr3:20197569-20197570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs137877187	chr3:20197600-20197601	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs62241671	chr3:20197616-20197617	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191397547	chr3:20197623-20197624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376862196	chr3:20197637-20197638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182189438	chr3:20197668-20197669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28391593	chr3:20197706-20197707	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72025201	chr3:20197707-20197708	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28507064	chr3:20197733-20197734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs200081862	chr3:20197741-20197742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201232196	chr3:20197742-20197743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs67228603	chr3:20197743-20197744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74461801	chr3:20197745-20197746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201977712	chr3:20197746-20197747	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563060936	chr3:20197760-20197761	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554110760	chr3:20197813-20197814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs35293980	chr3:20197822-20197823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545377717	chr3:20197880-20197881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187153602	chr3:20197899-20197900	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs62241672	chr3:20197945-20197946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538469076	chr3:20197986-20197987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192443801	chr3:20198012-20198013	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34680254	chr3:20198015-20198016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142309371	chr3:20198035-20198036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9809728	chr3:20198039-20198040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528873308	chr3:20198082-20198083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs544154649	chr3:20198101-20198102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562348885	chr3:20198134-20198135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558366325	chr3:20198141-20198142	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143504327	chr3:20198280-20198281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182496950	chr3:20198292-20198293	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559902487	chr3:20198293-20198294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115309537	chr3:20198306-20198307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7628915	chr3:20198326-20198327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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:1653 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
5	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
8	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
9	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
10	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
13	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:20182800-20198000	Weak transcription	Ovary	ovary
16	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:20183800-20199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:20184000-20198000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:20184400-20197800	Weak transcription	Lung	lung
23	chr3:20184400-20198000	Weak transcription	Right Ventricle	heart
24	chr3:20184400-20198400	Weak transcription	Spleen	Spleen
25	chr3:20184400-20198600	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:20184400-20199000	Weak transcription	Esophagus	oesophagus
27	chr3:20184600-20220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:20187400-20197600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:20187400-20197600	Strong transcription	Liver	Liver
30	chr3:20187400-20201000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr3:20187600-20201200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:20188000-20198600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:20188400-20204800	Weak transcription	Fetal Brain Female	brain
34	chr3:20188400-20212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:20189600-20200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:20189800-20201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr3:20190000-20199600	Weak transcription	A549	lung
38	chr3:20190200-20198200	Weak transcription	Brain Anterior Caudate	brain
39	chr3:20190200-20198400	Weak transcription	Brain Angular Gyrus	brain
40	chr3:20190200-20198600	Weak transcription	Fetal Stomach	stomach
41	chr3:20190200-20201400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:20190200-20201800	Weak transcription	Fetal Intestine Large	intestine
43	chr3:20190400-20202400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr3:20190600-20220200	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:20191000-20199400	Weak transcription	Brain Substantia Nigra	brain
46	chr3:20191200-20200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:20191600-20199000	Weak transcription	Placenta	Placenta
48	chr3:20191600-20201200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:20191600-20201400	Weak transcription	Left Ventricle	heart
50	chr3:20191800-20198400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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