Variant report

Variant	nsv999091
Chromosome Location	chr2:34154486-34993188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2198)
CpG islands
(count:427)
Chromatin interactive
region (count:57)
LncRNA
region (count:62)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:34219179-34219275	K562	blood:	n/a	n/a
2	ATF1	chr2:34814574-34814687	K562	blood:	n/a	n/a
3	ATF2	chr2:34154420-34154896	GM12878	blood:	n/a	n/a
4	ATF2	chr2:34492233-34492695	GM12878	blood:	n/a	n/a
5	ATF2	chr2:34590863-34591498	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:34516238-34516504	GM12878	blood:	n/a	n/a
9	BATF	chr2:34881803-34882061	GM12878	blood:	n/a	n/a
10	BATF	chr2:34492306-34492669	GM12878	blood:	n/a	chr2:34492484-34492495
11	BATF	chr2:34626250-34626627	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
12	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
13	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
14	BATF	chr2:34626271-34626588	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
15	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
16	BATF	chr2:34516235-34516448	GM12878	blood:	n/a	n/a
17	BATF	chr2:34492248-34492667	GM12878	blood:	n/a	chr2:34492484-34492495
18	BCL11A	chr2:34492295-34492624	GM12878	blood:	n/a	n/a
19	BCL11A	chr2:34591088-34591422	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL11A	chr2:34626351-34626529	GM12878	blood:	n/a	chr2:34626400-34626409 chr2:34626401-34626410
21	BCL3	chr2:34633212-34633509	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
22	BCL3	chr2:34633202-34633571	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
23	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
28	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:34633159-34633448	GM12878	blood:	n/a	n/a
32	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
33	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:34492074-34492695	GM12878	blood:	n/a	n/a
35	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
36	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
37	CBX3	chr2:34435457-34435788	K562	blood:	n/a	n/a
38	CBX3	chr2:34435491-34435729	K562	blood:	n/a	n/a
39	CCNT2	chr2:34623370-34623530	K562	blood:	n/a	n/a
40	CEBPB	chr2:34876038-34876081	K562	blood:	n/a	n/a
41	CEBPB	chr2:34706625-34706972	K562	blood:	n/a	chr2:34706794-34706805
42	CEBPB	chr2:34178145-34178467	A549	lung:	n/a	chr2:34178298-34178309
43	CEBPB	chr2:34440230-34440627	HepG2	liver:	n/a	chr2:34440437-34440448
44	CEBPB	chr2:34907939-34908176	A549	lung:	n/a	chr2:34908035-34908046
45	CEBPB	chr2:34651784-34652054	A549	lung:	n/a	chr2:34651953-34651964
46	CEBPB	chr2:34610815-34611181	A549	lung:	n/a	chr2:34610999-34611008 chr2:34611030-34611038 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610999-34611008 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610997-34611008 chr2:34610997-34611010 chr2:34610998-34611009 chr2:34610997-34611008
47	CEBPB	chr2:34706676-34706941	A549	lung:	n/a	chr2:34706794-34706805
48	CEBPB	chr2:34637613-34637978	K562	blood:	n/a	chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637784-34637797 chr2:34637785-34637796 chr2:34637786-34637795
49	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr2:34315236-34315504	HepG2	liver:	n/a	chr2:34315355-34315366

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34719565-34719615	SKMC	muscle:	n/a
2	chr2:34633637-34633687	AG09319	gingival:	n/a
3	chr2:34902113-34902163	HL-60	blood:	n/a
4	chr2:34852273-34852323	HCPEpiC	choroid plexus:	n/a
5	chr2:34902113-34902163	U87	brain:	n/a
6	chr2:34719719-34719769	T-47D	breast:	n/a
7	chr2:34902113-34902163	SK-N-SH_RA	brain:	n/a
8	chr2:34719719-34719769	CMK	blood:	n/a
9	chr2:34902113-34902163	H1-hESC	embryonic stem cell:	embryo
10	chr2:34852273-34852323	HRCEpiC	kidney:	n/a
11	chr2:34902113-34902163	NH-A	brain:	n/a
12	chr2:34719719-34719769	HUVEC	blood vessel:	n/a
13	chr2:34902113-34902163	HIPEpiC	eye:	n/a
14	chr2:34902113-34902163	HCM	heart:	n/a
15	chr2:34633637-34633687	ECC-1	luminal epithelium:	n/a
16	chr2:34720275-34720325	HAEpiC	amniotic membrane:	n/a
17	chr2:34902113-34902163	K562	blood:	n/a
18	chr2:34719719-34719769	HEK293	kidney:	embryo
19	chr2:34852273-34852323	HCF	heart:	n/a
20	chr2:34633637-34633687	HRPEpiC	eye:	n/a
21	chr2:34719719-34719769	H1-hESC	embryonic stem cell:	embryo
22	chr2:34633637-34633687	HUVEC	blood vessel:	n/a
23	chr2:34902113-34902163	CMK	blood:	n/a
24	chr2:34852273-34852323	HCT-116	colon:	n/a
25	chr2:34902113-34902163	AoSMC	blood vessel:	n/a
26	chr2:34720275-34720325	NH-A	brain:	n/a
27	chr2:34719719-34719769	Caco-2	colon:	n/a
28	chr2:34902113-34902163	PANC-1	pancreas:	n/a
29	chr2:34719565-34719615	BE2_C	brain:	n/a
30	chr2:34719565-34719615	GM12878	blood:	n/a
31	chr2:34633637-34633687	HepG2	liver:	n/a
32	chr2:34719565-34719615	SK-N-SH	brain:	n/a
33	chr2:34852273-34852323	GM06990	blood:	n/a
34	chr2:34633637-34633687	GM06990	blood:	n/a
35	chr2:34633637-34633687	ovcar-3	ovarian:	n/a
36	chr2:34590591-34590641	HepG2	liver:	n/a
37	chr2:34719565-34719615	HNPCEpiC	eye:	n/a
38	chr2:34633637-34633687	PrEC	prostate:	n/a
39	chr2:34719565-34719615	NB4	blood:	n/a
40	chr2:34720275-34720325	BJ	skin:	n/a
41	chr2:34852273-34852323	SK-N-SH	brain:	n/a
42	chr2:34902113-34902163	IMR90	lung:	fetal
43	chr2:34852273-34852323	Hela-S3	cervix:	n/a
44	chr2:34633637-34633687	AG04449	skin:	fetal
45	chr2:34590591-34590641	IMR90	lung:	fetal
46	chr2:34852273-34852323	SK-N-SH_RA	brain:	n/a
47	chr2:34720275-34720325	IMR90	lung:	fetal
48	chr2:34902113-34902163	HUVEC	blood vessel:	n/a
49	chr2:34719565-34719615	GM12892	blood:	n/a
50	chr2:34719719-34719769	AG10803	skin:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
2	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
3	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
4	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
5	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
6	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
7	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
8	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
9	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
10	chr17:57969237..57970939-chr2:34675539..34678526,2	MCF-7	breast:
11	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
12	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
13	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
14	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
15	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
16	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
17	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
18	chr17:41466170..41467868-chr2:34623111..34624611,2	MCF-7	breast:
19	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
20	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
21	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
22	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
23	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
24	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
25	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
26	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
27	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
28	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
29	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
30	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
31	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
32	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
33	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
34	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
35	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
36	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
37	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
38	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
39	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
40	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
41	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
42	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
43	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
44	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
45	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
46	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
47	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
48	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
49	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
50	chr12:46765173..46767943-chr2:34590937..34593382,2	MCF-7	breast:

(count:62 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
2	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033
3	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
4	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
5	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
6	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
7	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
8	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
9	lnc-RASGRP3-4	chr2:34935518-34935580	NONHSAT070045
10	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
11	lnc-FAM98A-8	chr2:34917357-34917552	ENSG00000272027.1
12	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785
13	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver
14	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
15	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
16	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
17	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
18	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
19	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
20	lnc-RASGRP3-4	chr2:34935519-34935580	ENSG00000228262.4
21	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
22	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
23	lnc-RASGRP3-3	chr2:34608855-34609276	ENSG00000226785
24	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
25	lnc-RASGRP3-1	chr2:34511710-34511813	ENSG00000203386
26	lnc-RASGRP3-15	chr2:34878421-34878470	NONHSAT070041
27	lnc-RASGRP3-3	chr2:34609584-34609636	ENSG00000226785
28	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
29	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
30	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
31	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
32	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
33	lnc-RASGRP3-4	chr2:34947066-34950118	NONHSAT070045
34	lnc-RASGRP3-4	chr2:34902711-34902994	NONHSAT070044
35	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031
36	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
37	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
38	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
39	lnc-RASGRP3-3	chr2:34511701-34511813	NONHSAT070034
40	lnc-RASGRP3-4	chr2:34935519-34935571	NONHSAT070044
41	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
42	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
43	lnc-RASGRP3-3	chr2:34609584-34609796	NONHSAT070034
44	lnc-RASGRP3-14	chr2:34800570-34801134	NONHSAT070037
45	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
46	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
47	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
48	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
49	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386
50	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver

No data

Variant related genes	Relation type
ENSG00000212025	TF binding region
ENSG00000226785	TF binding region
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000237790	TF binding region
ENSG00000212025	CpG island
ENSG00000226785	CpG island
ENSG00000272027	CpG island
ENSG00000232153	CpG island
ENSG00000228262	CpG island
ENSG00000237790	CpG island
ENSG00000188825	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000228262	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000138161	chromatin interactions
ENSG00000108443	chromatin interactions

Extended variants
information (count: 13700 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:13700 , 50 per page) page: 1 2 3 4 5 6 7 ... 274

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577125427	chr2:34154523-34154524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145483006	chr2:34154533-34154534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547065510	chr2:34154560-34154561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72868141	chr2:34154593-34154594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529620146	chr2:34154659-34154660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553233012	chr2:34154706-34154707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72868143	chr2:34154719-34154720	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs62130355	chr2:34154737-34154738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114592263	chr2:34154790-34154791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565860486	chr2:34154804-34154805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188696281	chr2:34154807-34154808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181182794	chr2:34154813-34154814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185866771	chr2:34154815-34154816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112980784	chr2:34154858-34154859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536205259	chr2:34154862-34154863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556838051	chr2:34154911-34154912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117381160	chr2:34154923-34154924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549831636	chr2:34154972-34154973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367887635	chr2:34154991-34154992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148820813	chr2:34155005-34155006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563024688	chr2:34155007-34155008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572300484	chr2:34155025-34155026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574969288	chr2:34155083-34155084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115359629	chr2:34155110-34155111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560603938	chr2:34155112-34155113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145199067	chr2:34155125-34155126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528664737	chr2:34155140-34155141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543018872	chr2:34155151-34155152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112588037	chr2:34155152-34155153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532332928	chr2:34155168-34155169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552498144	chr2:34155169-34155170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570756542	chr2:34169536-34169537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs145100011	chr2:34169551-34169552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs542528369	chr2:34169597-34169598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs13427776	chr2:34169616-34169617	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61455409	chr2:34183602-34183603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200093379	chr2:34183603-34183604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572377686	chr2:34183604-34183605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147872509	chr2:34183605-34183606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12611527	chr2:34183606-34183607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151065710	chr2:34183685-34183686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367954350	chr2:34183706-34183707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544079015	chr2:34183754-34183755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13421785	chr2:34183756-34183757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577013687	chr2:34183793-34183794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140787292	chr2:34183803-34183804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572874986	chr2:34183806-34183807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1559645	chr2:34183840-34183841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75853933	chr2:34183852-34183853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562060623	chr2:34183858-34183859	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Incontinentia Pigmenti	22033527	CNVD
Alcoholism	22295116	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:753 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34154400-34155200	Enhancers	GM12878-XiMat	blood
2	chr2:34183600-34184200	Enhancers	Fetal Brain Female	brain
3	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain
4	chr2:34212400-34212800	Enhancers	Placenta	Placenta
5	chr2:34222400-34222600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:34222600-34223000	ZNF genes & repeats	Pancreas	Pancrea
7	chr2:34228200-34228600	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:34228600-34229000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:34228800-34229000	Enhancers	Brain Germinal Matrix	brain
10	chr2:34228800-34229000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:34228800-34229000	Enhancers	Brain Substantia Nigra	brain
12	chr2:34228800-34229200	Enhancers	Brain Anterior Caudate	brain
13	chr2:34229000-34229200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:34229000-34229600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:34229000-34230200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:34229200-34229800	Weak transcription	Brain Anterior Caudate	brain
18	chr2:34229200-34230000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
20	chr2:34229800-34230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:34229800-34230000	Active TSS	Brain Hippocampus Middle	brain
22	chr2:34229800-34230400	Active TSS	Brain Angular Gyrus	brain
23	chr2:34229800-34230400	Active TSS	Brain Anterior Caudate	brain
24	chr2:34229800-34230400	Active TSS	Brain Germinal Matrix	brain
25	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:34230000-34230200	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:34230000-34230400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:34230000-34230400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:34230000-34230400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:34230000-34230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:34230200-34230400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
35	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
36	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
37	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
40	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
42	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
45	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain
48	chr2:34237600-34238200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:34237600-34238200	Enhancers	Fetal Kidney	kidney
50	chr2:34237600-34238200	Enhancers	Rectal Smooth Muscle	rectum

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