Variant report

Variant	nsv873799
Chromosome Location	chr2:33996983-34821990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2117)
CpG islands
(count:488)
Chromatin interactive
region (count:60)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2117 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

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	chr2:34590863-34591498	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:34154420-34154896	GM12878	blood:	n/a	n/a
5	ATF2	chr2:34492233-34492695	GM12878	blood:	n/a	n/a
6	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr2:34626271-34626588	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
8	BATF	chr2:34626250-34626627	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
9	BATF	chr2:34492306-34492669	GM12878	blood:	n/a	chr2:34492484-34492495
10	BATF	chr2:34516238-34516504	GM12878	blood:	n/a	n/a
11	BATF	chr2:34516235-34516448	GM12878	blood:	n/a	n/a
12	BATF	chr2:34492248-34492667	GM12878	blood:	n/a	chr2:34492484-34492495
13	BCL11A	chr2:34492295-34492624	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:34591088-34591422	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL11A	chr2:34626351-34626529	GM12878	blood:	n/a	chr2:34626400-34626409 chr2:34626401-34626410
16	BCL3	chr2:34633212-34633509	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
17	BCL3	chr2:34633202-34633571	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
18	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:34492074-34492695	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:34118559-34118568	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:34009927-34010076	GM12878	blood:	n/a	n/a
22	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:34010355-34011098	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:34633159-34633448	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
27	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr2:34435457-34435788	K562	blood:	n/a	n/a
29	CBX3	chr2:34435491-34435729	K562	blood:	n/a	n/a
30	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
31	CCNT2	chr2:34623370-34623530	K562	blood:	n/a	n/a
32	CEBPB	chr2:34192195-34192513	A549	lung:	n/a	chr2:34192365-34192376 chr2:34192346-34192357
33	CEBPB	chr2:34512235-34512435	HepG2	liver:	n/a	chr2:34512358-34512369 chr2:34512358-34512371
34	CEBPB	chr2:34153006-34153284	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:34225449-34225592	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:34195079-34195308	K562	blood:	n/a	chr2:34195181-34195192
37	CEBPB	chr2:34651815-34652025	H1-hESC	embryonic stem cell:	n/a	chr2:34651953-34651964
38	CEBPB	chr2:34610824-34611131	Hela-S3	cervix:	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
39	CEBPB	chr2:34135074-34135413	HepG2	liver:	n/a	chr2:34135192-34135203
40	CEBPB	chr2:34073519-34074040	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:34440286-34440608	H1-hESC	embryonic stem cell:	n/a	chr2:34440437-34440448
42	CEBPB	chr2:34074255-34074588	HepG2	liver:	n/a	chr2:34074408-34074419
43	CEBPB	chr2:34135009-34135391	HepG2	liver:	n/a	chr2:34135192-34135203
44	CEBPB	chr2:34637610-34637983	IMR90	lung:	n/a	chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637786-34637795 chr2:34637784-34637797 chr2:34637785-34637796 chr2:34637786-34637795
45	CEBPB	chr2:34415049-34415217	H1-hESC	embryonic stem cell:	n/a	chr2:34415149-34415160
46	CEBPB	chr2:34237819-34238137	HepG2	liver:	n/a	n/a
47	CEBPB	chr2:34331805-34332056	A549	lung:	n/a	chr2:34331898-34331909
48	CEBPB	chr2:34590884-34591363	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr2:34047164-34047373	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr2:34174561-34174873	HepG2	liver:	n/a	chr2:34174688-34174699

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34128909-34128959	HMEC	breast:	n/a
2	chr2:34719719-34719769	HL-60	blood:	n/a
3	chr2:34719719-34719769	NT2-D1	testis:	n/a
4	chr2:34590591-34590641	AG09309	skin:	n/a
5	chr2:34590591-34590641	PFSK-1	brain:	n/a
6	chr2:34633637-34633687	GM06990	blood:	n/a
7	chr2:34590591-34590641	Jurkat	blood:	n/a
8	chr2:34719719-34719769	SK-N-SH_RA	brain:	n/a
9	chr2:34719719-34719769	NH-A	brain:	n/a
10	chr2:34720275-34720325	K562	blood:	n/a
11	chr2:34720275-34720325	BE2_C	brain:	n/a
12	chr2:34128722-34128772	HMEC	breast:	n/a
13	chr2:34128696-34128746	RPTEC	kidney:	n/a
14	chr2:34633637-34633687	U87	brain:	n/a
15	chr2:34128696-34128746	HNPCEpiC	eye:	n/a
16	chr2:34590591-34590641	HIPEpiC	eye:	n/a
17	chr2:34720275-34720325	SK-N-MC	brain:	n/a
18	chr2:34128696-34128746	ProgFib	skin:	n/a
19	chr2:34128909-34128959	HRPEpiC	eye:	n/a
20	chr2:34128909-34128959	HCPEpiC	choroid plexus:	n/a
21	chr2:34719719-34719769	HRE	kidney:	n/a
22	chr2:34720275-34720325	A549	lung:	n/a
23	chr2:34128696-34128746	SK-N-SH_RA	brain:	n/a
24	chr2:34719565-34719615	NHBE	bronchial:	n/a
25	chr2:34633637-34633687	PFSK-1	brain:	n/a
26	chr2:34719719-34719769	GM06990	blood:	n/a
27	chr2:34720275-34720325	GM12892	blood:	n/a
28	chr2:34128696-34128746	HMEC	breast:	n/a
29	chr2:34719565-34719615	HL-60	blood:	n/a
30	chr2:34128696-34128746	NHDF-neo	bronchial:	n/a
31	chr2:34719565-34719615	HCF	heart:	n/a
32	chr2:34128696-34128746	GM12878	blood:	n/a
33	chr2:34128696-34128746	HRCEpiC	kidney:	n/a
34	chr2:34633637-34633687	HRE	kidney:	n/a
35	chr2:34128696-34128746	HEEpiC	esophagus:	n/a
36	chr2:34590591-34590641	SKMC	muscle:	n/a
37	chr2:34633637-34633687	NH-A	brain:	n/a
38	chr2:34720275-34720325	Hepatocyte	liver:	n/a
39	chr2:34719565-34719615	CMK	blood:	n/a
40	chr2:34590591-34590641	HEK293	kidney:	embryo
41	chr2:34720275-34720325	IMR90	lung:	fetal
42	chr2:34720275-34720325	HRPEpiC	eye:	n/a
43	chr2:34633637-34633687	HMEC	breast:	n/a
44	chr2:34633637-34633687	BE2_C	brain:	n/a
45	chr2:34128696-34128746	Hepatocyte	liver:	n/a
46	chr2:34720275-34720325	HIPEpiC	eye:	n/a
47	chr2:34128909-34128959	LNCaP	prostate:	n/a
48	chr2:34719719-34719769	LNCaP	prostate:	n/a
49	chr2:34590591-34590641	AG09319	gingival:	n/a
50	chr2:34128696-34128746	H1-hESC	embryonic stem cell:	embryo

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
2	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
3	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
4	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
5	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
6	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
7	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
8	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
9	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
10	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
11	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
12	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
13	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
14	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
15	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
16	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
17	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
18	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
19	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
20	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:
21	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
22	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
23	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
24	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
25	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
26	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
27	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
28	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
29	chr11:62608939..62609489-chr2:34040620..34041120,2	Hela-S3	cervix:
30	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
31	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
32	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
33	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
34	chr17:41466170..41467868-chr2:34623111..34624611,2	MCF-7	breast:
35	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
36	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
37	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
38	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
39	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
40	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
41	chr2:33994888..33996887-chr2:34002074..34004966,2	MCF-7	breast:
42	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
43	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
44	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
45	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
46	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
47	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
48	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
49	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
50	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386
2	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
3	lnc-RASGRP3-3	chr2:34609584-34609796	NONHSAT070034
4	lnc-RASGRP3-12	chr2:34145797-34145874	NONHSAT070029
5	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
6	lnc-RASGRP3-14	chr2:34800570-34801134	NONHSAT070037
7	lnc-RASGRP3-12	chr2:34146785-34146851	NONHSAT070029
8	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031
9	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver
10	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
11	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
12	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
13	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
14	lnc-RASGRP3-3	chr2:34609584-34609636	ENSG00000226785
15	lnc-RASGRP3-12	chr2:34147670-34148121	NONHSAT070029
16	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
17	lnc-RASGRP3-1	chr2:34111439-34111541	ENSG00000203386
18	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
19	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
20	lnc-RASGRP3-3	chr2:34608855-34609276	ENSG00000226785
21	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
22	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
23	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver
24	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
25	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
26	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
27	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
28	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
29	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386
30	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
31	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033
32	lnc-RASGRP3-1	chr2:34511710-34511813	ENSG00000203386
33	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
34	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
35	lnc-RASGRP3-3	chr2:34511701-34511813	NONHSAT070034
36	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386
37	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033

No data

Variant related genes	Relation type
ENSG00000212025	TF binding region
SLC25A5P2	TF binding region
ENSG00000266861	TF binding region
ENSG00000226785	TF binding region
ENSG00000264267	TF binding region
ENSG00000237790	TF binding region
ENSG00000212025	CpG island
SLC25A5P2	CpG island
ENSG00000266861	CpG island
ENSG00000226785	CpG island
ENSG00000264267	CpG island
ENSG00000237790	CpG island
ENSG00000258096	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000138161	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000108669	chromatin interactions

Extended variants
information (count: 15112 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:15112 , 50 per page) page: 1 2 3 4 5 6 7 ... 303

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6714970	chr2:33996983-33996984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576423615	chr2:33996994-33996995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6715166	chr2:33997021-33997022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559229572	chr2:33997035-33997036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112752418	chr2:33997045-33997046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148111725	chr2:33997057-33997058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184220403	chr2:33997072-33997073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371053322	chr2:33997120-33997121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561169795	chr2:33997122-33997123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72860106	chr2:33997135-33997136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543123966	chr2:33997170-33997171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141069580	chr2:33997177-33997178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112396263	chr2:33997196-33997197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117211081	chr2:33997229-33997230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13429971	chr2:33997264-33997265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189415690	chr2:33997294-33997295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34718364	chr2:33997310-33997311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181974642	chr2:33997320-33997321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73926374	chr2:33997324-33997325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150239615	chr2:33997335-33997336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115353190	chr2:33997411-33997412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528080906	chr2:33997415-33997416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556664529	chr2:33997433-33997434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184642512	chr2:33997441-33997442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2140135	chr2:33997445-33997446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558696913	chr2:33997452-33997453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572378649	chr2:33997454-33997455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561537819	chr2:33997472-33997473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534990155	chr2:33997500-33997501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149435342	chr2:33997529-33997530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185053407	chr2:33997532-33997533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574735271	chr2:33997540-33997541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568143794	chr2:33997544-33997545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73926375	chr2:33997562-33997563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189330213	chr2:33997567-33997568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34427599	chr2:33997613-33997614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576748982	chr2:33997617-33997618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532059507	chr2:33997641-33997642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180882756	chr2:33997650-33997651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186358688	chr2:33997656-33997657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191251091	chr2:33997658-33997659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548540825	chr2:33997693-33997694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146379921	chr2:33997694-33997695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12233120	chr2:33997696-33997697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs137888137	chr2:33997729-33997730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35416217	chr2:33997748-33997749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142341848	chr2:33997765-33997766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145983582	chr2:33997766-33997767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181642447	chr2:33997794-33997795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148631651	chr2:33997829-33997830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	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:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33987000-34000200	Weak transcription	Gastric	stomach
2	chr2:34000200-34000800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:34000200-34001000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:34000400-34000600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:34002400-34003200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:34002600-34003800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:34003200-34003600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:34003400-34003800	Enhancers	Fetal Stomach	stomach
9	chr2:34003600-34005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:34003800-34009400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:34005200-34009400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:34005800-34006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:34006000-34007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:34007000-34007200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:34007000-34008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:34007200-34011000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:34007400-34008400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:34007600-34008400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:34007600-34008400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:34008400-34009400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:34008400-34009600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:34008800-34009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:34009000-34009600	Enhancers	GM12878-XiMat	blood
24	chr2:34009200-34010200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:34009400-34010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:34009400-34011400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:34009400-34011400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr2:34009400-34014800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:34009600-34011400	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:34009800-34010000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:34009800-34011200	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:34009800-34011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:34010200-34011800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:34010600-34013000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:34011000-34011200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:34011200-34011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:34011400-34011600	Enhancers	GM12878-XiMat	blood
38	chr2:34011600-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:34011600-34013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:34011800-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:34012400-34013600	Enhancers	NHDF-Ad	bronchial
42	chr2:34013000-34013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:34013000-34013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:34013400-34021000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:34014800-34015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:34015600-34017200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:34017200-34021000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:34021000-34021600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:34021000-34021800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:34021000-34021800	Enhancers	Fetal Heart	heart

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