Variant report

Variant	nsv1006001
Chromosome Location	chr2:33991364-34858721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2238)
CpG islands
(count:549)
Chromatin interactive
region (count:61)
LncRNA
region (count:38)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2238 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

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	chr2:33992471-33992698	GM12878	blood:	n/a	n/a
8	BATF	chr2:34516235-34516448	GM12878	blood:	n/a	n/a
9	BATF	chr2:34492248-34492667	GM12878	blood:	n/a	chr2:34492484-34492495
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	chr2:34626271-34626588	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
13	BATF	chr2:33992376-33992627	GM12878	blood:	n/a	n/a
14	BATF	chr2:34516238-34516504	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:33992459-33992730	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:34626351-34626529	GM12878	blood:	n/a	chr2:34626400-34626409 chr2:34626401-34626410
17	BCL11A	chr2:33992452-33992619	GM12878	blood:	n/a	n/a
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	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
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	BHLHE40	chr2:34010355-34011098	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:34492074-34492695	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:33992456-33992639	HepG2	liver:	n/a	n/a
28	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:34009927-34010076	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:34633159-34633448	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
32	BHLHE40	chr2:34118559-34118568	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr2:34435457-34435788	K562	blood:	n/a	n/a
35	CBX3	chr2:34435491-34435729	K562	blood:	n/a	n/a
36	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
37	CCNT2	chr2:34623370-34623530	K562	blood:	n/a	n/a
38	CEBPB	chr2:34062064-34062078	HepG2	liver:	n/a	n/a
39	CEBPB	chr2:34351399-34351724	A549	lung:	n/a	n/a
40	CEBPB	chr2:34063261-34063570	HepG2	liver:	n/a	chr2:34063436-34063447
41	CEBPB	chr2:34517483-34517740	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:34195103-34195289	H1-hESC	embryonic stem cell:	n/a	chr2:34195181-34195192
43	CEBPB	chr2:34329961-34330780	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:34706631-34706981	IMR90	lung:	n/a	chr2:34706794-34706805
45	CEBPB	chr2:34093496-34093707	A549	lung:	n/a	n/a
46	CEBPB	chr2:34327493-34327598	A549	lung:	n/a	n/a
47	CEBPB	chr2:34651815-34652025	H1-hESC	embryonic stem cell:	n/a	chr2:34651953-34651964
48	CEBPB	chr2:34074255-34074588	HepG2	liver:	n/a	chr2:34074408-34074419
49	CEBPB	chr2:34074371-34074506	H1-hESC	embryonic stem cell:	n/a	chr2:34074408-34074419
50	CEBPB	chr2:34178133-34178487	HepG2	liver:	n/a	chr2:34178298-34178309

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34128696-34128746	T-47D	breast:	n/a
2	chr2:34590591-34590641	BJ	skin:	n/a
3	chr2:34633637-34633687	SK-N-MC	brain:	n/a
4	chr2:34852273-34852323	ovcar-3	ovarian:	n/a
5	chr2:34719565-34719615	SK-N-SH_RA	brain:	n/a
6	chr2:34128722-34128772	SK-N-MC	brain:	n/a
7	chr2:34128909-34128959	BE2_C	brain:	n/a
8	chr2:34719565-34719615	CMK	blood:	n/a
9	chr2:34852273-34852323	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:34128696-34128746	SKMC	muscle:	n/a
11	chr2:34852273-34852323	GM06990	blood:	n/a
12	chr2:34128722-34128772	GM06990	blood:	n/a
13	chr2:34128909-34128959	NT2-D1	testis:	n/a
14	chr2:34719565-34719615	HIPEpiC	eye:	n/a
15	chr2:34719719-34719769	Jurkat	blood:	n/a
16	chr2:34719565-34719615	LNCaP	prostate:	n/a
17	chr2:34852273-34852323	HRE	kidney:	n/a
18	chr2:34852273-34852323	HEK293	kidney:	embryo
19	chr2:34720275-34720325	LNCaP	prostate:	n/a
20	chr2:34128909-34128959	NHBE	bronchial:	n/a
21	chr2:34128696-34128746	HMEC	breast:	n/a
22	chr2:34720275-34720325	AG09309	skin:	n/a
23	chr2:34633637-34633687	SKMC	muscle:	n/a
24	chr2:34128696-34128746	SK-N-SH_RA	brain:	n/a
25	chr2:34719719-34719769	HUVEC	blood vessel:	n/a
26	chr2:34128722-34128772	NHBE	bronchial:	n/a
27	chr2:34719719-34719769	PFSK-1	brain:	n/a
28	chr2:34590591-34590641	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:34128696-34128746	HCM	heart:	n/a
30	chr2:34633637-34633687	U87	brain:	n/a
31	chr2:34720275-34720325	NHBE	bronchial:	n/a
32	chr2:34590591-34590641	HCT-116	colon:	n/a
33	chr2:34719565-34719615	SKMC	muscle:	n/a
34	chr2:34852273-34852323	NHDF-neo	bronchial:	n/a
35	chr2:34128722-34128772	AG09309	skin:	n/a
36	chr2:34128909-34128959	SKMC	muscle:	n/a
37	chr2:34852273-34852323	HNPCEpiC	eye:	n/a
38	chr2:34719719-34719769	HMEC	breast:	n/a
39	chr2:34128722-34128772	A549	lung:	n/a
40	chr2:34633637-34633687	GM12891	blood:	n/a
41	chr2:34590591-34590641	SAEC	small airway:	n/a
42	chr2:34128696-34128746	A549	lung:	n/a
43	chr2:34852273-34852323	MCF10A-Er-Src	breast:	n/a
44	chr2:34128696-34128746	AG09309	skin:	n/a
45	chr2:34128696-34128746	HRCEpiC	kidney:	n/a
46	chr2:34720275-34720325	IMR90	lung:	fetal
47	chr2:34590591-34590641	HL-60	blood:	n/a
48	chr2:34128722-34128772	NB4	blood:	n/a
49	chr2:34852273-34852323	HepG2	liver:	n/a
50	chr2:34590591-34590641	GM12891	blood:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
2	chr12:46765173..46767943-chr2:34590937..34593382,2	MCF-7	breast:
3	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
4	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:
5	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
6	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
7	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
8	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
9	chr17:41466170..41467868-chr2:34623111..34624611,2	MCF-7	breast:
10	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
11	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
12	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
13	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
14	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
15	chr2:34033415..34035422-chr2:34038221..34040306,2	MCF-7	breast:
16	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
17	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
18	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
19	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
20	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
21	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
22	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
23	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
24	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
25	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
26	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
27	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
28	chr11:62608939..62609489-chr2:34040620..34041120,2	Hela-S3	cervix:
29	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
30	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
31	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
32	chr17:76778253..76778888-chr2:34769758..34770277,2	MCF-7	breast:
33	chr2:33994888..33996887-chr2:34002074..34004966,2	MCF-7	breast:
34	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
35	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
36	chr2:34008516..34010441-chr2:34014849..34016681,2	MCF-7	breast:
37	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
38	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
39	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
40	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
41	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
42	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
43	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
44	chr2:34056369..34058032-chr2:34058034..34060009,2	K562	blood:
45	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
46	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
47	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
48	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
49	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
50	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:

(count:38 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
2	lnc-RASGRP3-12	chr2:34146785-34146851	NONHSAT070029
3	lnc-RASGRP3-14	chr2:34815892-34816802	NONHSAT070039
4	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
5	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
6	lnc-RASGRP3-14	chr2:34815937-34816109	l_1807_chr2:34789043-34803561_liver
7	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
8	lnc-RASGRP3-3	chr2:34609584-34609796	NONHSAT070034
9	lnc-RASGRP3-3	chr2:34511701-34511813	NONHSAT070034
10	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
11	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
12	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
13	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
14	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
15	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
16	lnc-RASGRP3-12	chr2:34145797-34145874	NONHSAT070029
17	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033
18	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031
19	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
20	lnc-RASGRP3-1	chr2:34511710-34511813	ENSG00000203386
21	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
22	lnc-RASGRP3-1	chr2:34111439-34111541	ENSG00000203386
23	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386
24	lnc-RASGRP3-1	chr2:34169495-34169620	ENSG00000203386
25	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
26	lnc-RASGRP3-12	chr2:34147670-34148121	NONHSAT070029
27	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
28	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver
29	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
30	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386
31	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033
32	lnc-RASGRP3-1	chr2:34151907-34152035	ENSG00000203386
33	lnc-RASGRP3-1	chr2:34080755-34080820	ENSG00000203386
34	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
35	lnc-RASGRP3-3	chr2:34608855-34609276	ENSG00000226785
36	lnc-RASGRP3-3	chr2:34609584-34609636	ENSG00000226785
37	lnc-RASGRP3-14	chr2:34800570-34801134	NONHSAT070037
38	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039

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
ENSG00000188825	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000129484	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000258096	chromatin interactions
ENSG00000138161	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 15459 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:15459 , 50 per page) page: 1 2 3 4 5 6 7 ... 310

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529267990	chr2:33991371-33991372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183761874	chr2:33991385-33991386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562891795	chr2:33991399-33991400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373379683	chr2:33991406-33991407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142224971	chr2:33991414-33991415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111575027	chr2:33991433-33991434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571803083	chr2:33991436-33991437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537578845	chr2:33991437-33991438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527923838	chr2:33991491-33991492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11124335	chr2:33991514-33991515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11124336	chr2:33991555-33991556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535958980	chr2:33991559-33991560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12622998	chr2:33991569-33991570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188485444	chr2:33991603-33991604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538507947	chr2:33991611-33991612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11124337	chr2:33991614-33991615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572202894	chr2:33991631-33991632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17013832	chr2:33991632-33991633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17013834	chr2:33991633-33991634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574079063	chr2:33991649-33991650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35366790	chr2:33991684-33991685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574021132	chr2:33991685-33991686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543145453	chr2:33991747-33991748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140960214	chr2:33991754-33991755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576545990	chr2:33991776-33991777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150186646	chr2:33991790-33991791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4670942	chr2:33991794-33991795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527868544	chr2:33991805-33991806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547639495	chr2:33991843-33991844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561554539	chr2:33991866-33991867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529696068	chr2:33991876-33991877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113994503	chr2:33991883-33991884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376997927	chr2:33991886-33991887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193075379	chr2:33991901-33991902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139175397	chr2:33991912-33991913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533754100	chr2:33991952-33991953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111556040	chr2:33991961-33991962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4670280	chr2:33991972-33991973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs528233934	chr2:33991975-33991976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534632433	chr2:33991986-33991987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574693359	chr2:33991995-33991996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12712360	chr2:33992013-33992014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4670281	chr2:33992016-33992017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528974216	chr2:33992100-33992101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11124338	chr2:33992145-33992146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs114473101	chr2:33992158-33992159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184063482	chr2:33992159-33992160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187872779	chr2:33992188-33992189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116538224	chr2:33992228-33992229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17013836	chr2:33992248-33992249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:817 , 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	chr2:33988000-33992200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:33990400-33991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:33990400-33995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:33990800-33995200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:33991400-33991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:33995000-33995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:33995000-33995600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:33995200-33995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:34000200-34000800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:34000200-34001000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr2:34000400-34000600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:34002400-34003200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:34002600-34003800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:34003200-34003600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:34003400-34003800	Enhancers	Fetal Stomach	stomach
17	chr2:34003600-34005200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:34003800-34009400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:34005200-34009400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:34005800-34006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:34006000-34007000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:34007000-34007200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:34007000-34008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:34007200-34011000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:34007400-34008400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:34007600-34008400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:34007600-34008400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:34008400-34009400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:34008400-34009600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:34008800-34009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:34009000-34009600	Enhancers	GM12878-XiMat	blood
32	chr2:34009200-34010200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:34009400-34010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:34009400-34011400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:34009400-34011400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:34009400-34014800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:34009600-34011400	Flanking Active TSS	GM12878-XiMat	blood
38	chr2:34009800-34010000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:34009800-34011200	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:34009800-34011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:34010200-34011800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:34010600-34013000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:34011000-34011200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:34011200-34011600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:34011400-34011600	Enhancers	GM12878-XiMat	blood
46	chr2:34011600-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:34011600-34013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:34011800-34012200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:34012400-34013600	Enhancers	NHDF-Ad	bronchial
50	chr2:34013000-34013400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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