Variant report

Variant	nsv1006214
Chromosome Location	chr2:172691689-172754296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:645)
CpG islands
(count:612)
Chromatin interactive
region (count:68)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:172735003-172735365	K562	blood:	n/a	n/a
2	ARID3A	chr2:172750965-172751421	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:172694396-172694624	HepG2	liver:	n/a	n/a
4	ATF1	chr2:172734902-172735401	K562	blood:	n/a	n/a
5	ATF2	chr2:172750268-172750816	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:172750850-172751101	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:172751659-172751671	K562	blood:	n/a	n/a
8	BATF	chr2:172734980-172735230	GM12878	blood:	n/a	n/a
9	BATF	chr2:172734927-172735228	GM12878	blood:	n/a	n/a
10	BCL3	chr2:172750129-172750590	A549	lung:	n/a	chr2:172750443-172750452 chr2:172750574-172750587
11	BCLAF1	chr2:172750536-172751395	GM12878	blood:	n/a	chr2:172750574-172750587 chr2:172750918-172750931
12	BHLHE40	chr2:172750285-172751218	HepG2	liver:	n/a	chr2:172750859-172750875
13	BHLHE40	chr2:172750429-172751255	GM12878	blood:	n/a	chr2:172750859-172750875
14	BHLHE40	chr2:172750385-172751676	K562	blood:	n/a	chr2:172750859-172750875
15	BHLHE40	chr2:172735026-172735408	K562	blood:	n/a	n/a
16	CBX3	chr2:172750220-172751418	K562	blood:	n/a	n/a
17	CBX3	chr2:172734924-172735552	K562	blood:	n/a	chr2:172735491-172735502
18	CCNT2	chr2:172750542-172751128	K562	blood:	n/a	n/a
19	CEBPB	chr2:172735860-172736066	H1-hESC	embryonic stem cell:	n/a	chr2:172735936-172735953 chr2:172735937-172735950
20	CEBPB	chr2:172750166-172750981	GM12878	blood:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
21	CEBPB	chr2:172694315-172694574	HepG2	liver:	n/a	chr2:172694453-172694464
22	CEBPB	chr2:172750055-172750889	K562	blood:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
23	CEBPB	chr2:172750125-172751381	K562	blood:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
24	CEBPB	chr2:172752385-172752633	K562	blood:	n/a	n/a
25	CEBPB	chr2:172752375-172752649	IMR90	lung:	n/a	n/a
26	CEBPB	chr2:172694262-172694596	K562	blood:	n/a	chr2:172694453-172694464
27	CEBPB	chr2:172750154-172751174	IMR90	lung:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
28	CEBPB	chr2:172750220-172750851	HepG2	liver:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
29	CEBPB	chr2:172750169-172751151	HepG2	liver:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
30	CEBPB	chr2:172750150-172751140	HepG2	liver:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
31	CEBPB	chr2:172750093-172750534	A549	lung:	n/a	n/a
32	CEBPB	chr2:172750149-172751220	A549	lung:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
33	CEBPB	chr2:172750035-172751199	A549	lung:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
34	CEBPB	chr2:172746330-172746656	HepG2	liver:	n/a	n/a
35	CEBPB	chr2:172703242-172703329	K562	blood:	n/a	n/a
36	CEBPB	chr2:172694279-172694617	IMR90	lung:	n/a	chr2:172694453-172694464
37	CEBPB	chr2:172694219-172694645	HepG2	liver:	n/a	chr2:172694453-172694464
38	CEBPB	chr2:172750103-172750863	ECC-1	luminal epithelium:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
39	CEBPB	chr2:172750117-172750956	H1-hESC	embryonic stem cell:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
40	CEBPB	chr2:172750587-172750739	HepG2	liver:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
41	CEBPB	chr2:172750151-172750434	K562	blood:	n/a	n/a
42	CEBPB	chr2:172750158-172751205	MCF-7	breast:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
43	CEBPB	chr2:172750514-172750801	ECC-1	luminal epithelium:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
44	CEBPB	chr2:172750132-172751232	Hela-S3	cervix:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
45	CEBPB	chr2:172694275-172694597	A549	lung:	n/a	chr2:172694453-172694464
46	CEBPB	chr2:172752399-172752543	A549	lung:	n/a	n/a
47	CEBPB	chr2:172735792-172736071	K562	blood:	n/a	chr2:172735936-172735953 chr2:172735937-172735950
48	CEBPD	chr2:172750454-172751089	HepG2	liver:	n/a	n/a
49	CHD1	chr2:172750956-172751153	GM12878	blood:	n/a	n/a
50	CHD2	chr2:172750226-172751114	Hela-S3	cervix:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172747482-172747532	HCM	heart:	n/a
2	chr2:172734703-172734753	H1-hESC	embryonic stem cell:	embryo
3	chr2:172747482-172747532	HCM	heart:	n/a
4	chr2:172734703-172734753	H1-hESC	embryonic stem cell:	embryo
5	chr2:172750994-172751044	HL-60	blood:	n/a
6	chr2:172751074-172751124	GM12878	blood:	n/a
7	chr2:172750719-172750769	Caco-2	colon:	n/a
8	chr2:172750994-172751044	ProgFib	skin:	n/a
9	chr2:172751074-172751124	Caco-2	colon:	n/a
10	chr2:172747482-172747532	NHBE	bronchial:	n/a
11	chr2:172751016-172751066	K562	blood:	n/a
12	chr2:172747482-172747532	SK-N-SH	brain:	n/a
13	chr2:172750661-172750711	HepG2	liver:	n/a
14	chr2:172750661-172750711	HEK293	kidney:	embryo
15	chr2:172750994-172751044	Caco-2	colon:	n/a
16	chr2:172734703-172734753	U87	brain:	n/a
17	chr2:172751088-172751138	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:172750661-172750711	U87	brain:	n/a
19	chr2:172747482-172747532	IMR90	lung:	fetal
20	chr2:172751074-172751124	HRE	kidney:	n/a
21	chr2:172751016-172751066	AG04450	lung:	fetal
22	chr2:172751074-172751124	T-47D	breast:	n/a
23	chr2:172750719-172750769	HepG2	liver:	n/a
24	chr2:172750719-172750769	T-47D	breast:	n/a
25	chr2:172734703-172734753	HCPEpiC	choroid plexus:	n/a
26	chr2:172734703-172734753	HNPCEpiC	eye:	n/a
27	chr2:172751088-172751138	ECC-1	luminal epithelium:	n/a
28	chr2:172751074-172751124	AG04449	skin:	fetal
29	chr2:172750996-172751046	AG09319	gingival:	n/a
30	chr2:172751016-172751066	T-47D	breast:	n/a
31	chr2:172734703-172734753	HRCEpiC	kidney:	n/a
32	chr2:172747482-172747532	HAEpiC	amniotic membrane:	n/a
33	chr2:172750994-172751044	HCPEpiC	choroid plexus:	n/a
34	chr2:172750661-172750711	ovcar-3	ovarian:	n/a
35	chr2:172751016-172751066	MCF10A-Er-Src	breast:	n/a
36	chr2:172750661-172750711	Hepatocyte	liver:	n/a
37	chr2:172750719-172750769	ProgFib	skin:	n/a
38	chr2:172751074-172751124	Hepatocyte	liver:	n/a
39	chr2:172751074-172751124	AG10803	skin:	n/a
40	chr2:172750661-172750711	HRE	kidney:	n/a
41	chr2:172750996-172751046	ECC-1	luminal epithelium:	n/a
42	chr2:172734703-172734753	BJ	skin:	n/a
43	chr2:172747482-172747532	HUVEC	blood vessel:	n/a
44	chr2:172751016-172751066	GM12891	blood:	n/a
45	chr2:172751088-172751138	HCM	heart:	n/a
46	chr2:172750661-172750711	HCF	heart:	n/a
47	chr2:172751074-172751124	LNCaP	prostate:	n/a
48	chr2:172751016-172751066	U87	brain:	n/a
49	chr2:172751088-172751138	Jurkat	blood:	n/a
50	chr2:172750994-172751044	H1-hESC	embryonic stem cell:	embryo

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:
2	chr2:172694890..172697210-chr2:172702611..172704995,2	K562	blood:
3	chr2:172729602..172731733-chr2:172737376..172738895,2	K562	blood:
4	chr2:172736226..172738889-chr2:172742380..172745045,2	K562	blood:
5	chr2:172733666..172736692-chr2:172737293..172740256,4	K562	blood:
6	chr2:172734512..172737227-chr2:172778831..172780357,3	K562	blood:
7	chr2:172701109..172703574-chr2:172703863..172706321,3	MCF-7	breast:
8	chr2:172733666..172736692-chr2:172737293..172740256,4	K562	blood:
9	chr2:172550022..172552574-chr2:172719312..172721554,2	K562	blood:
10	chr2:172696413..172698762-chr2:172699806..172701539,2	K562	blood:
11	chr2:172701236..172703599-chr2:172719950..172722171,2	K562	blood:
12	chr2:172707374..172709548-chr2:172749160..172751404,2	K562	blood:
13	chr2:172690151..172693576-chr2:172695160..172698250,3	K562	blood:
14	chr2:172734512..172736409-chr2:172778831..172780344,2	K562	blood:
15	chr2:172750934..172752603-chr2:172948877..172950816,2	MCF-7	breast:
16	chr2:172701236..172703599-chr2:172719950..172722171,2	K562	blood:
17	chr2:172749328..172751742-chr2:172775594..172779310,3	MCF-7	breast:
18	chr2:172708386..172710884-chr2:172736150..172738509,2	K562	blood:
19	chr2:172737251..172741632-chr2:172744127..172746151,4	K562	blood:
20	chr2:172729602..172731733-chr2:172737376..172738895,2	K562	blood:
21	chr2:172722204..172724793-chr2:172734963..172736476,2	K562	blood:
22	chr2:172734552..172737535-chr2:172742363..172744070,2	K562	blood:
23	chr2:172720314..172722919-chr2:172744324..172746947,2	K562	blood:
24	chr2:172736226..172738889-chr2:172742380..172745045,2	K562	blood:
25	chr2:172712150..172715433-chr2:172717906..172722100,4	K562	blood:
26	chr2:172724899..172727363-chr2:172737515..172740249,2	K562	blood:
27	chr2:172737251..172741632-chr2:172744127..172746151,4	K562	blood:
28	chr16:18995213..18995850-chr2:172750648..172751335,2	Hela-S3	cervix:
29	chr2:172690978..172693362-chr2:172778246..172780451,2	K562	blood:
30	chr2:172736755..172739863-chr2:172746964..172750897,4	K562	blood:
31	chr2:172708386..172710884-chr2:172736150..172738509,2	K562	blood:
32	chr2:172694890..172697210-chr2:172702611..172704995,2	K562	blood:
33	chr2:172745241..172748938-chr2:172777169..172782251,7	K562	blood:
34	chr2:172690324..172692535-chr2:172778951..172781144,3	K562	blood:
35	chr2:172289011..172290991-chr2:172749560..172752051,2	K562	blood:
36	chr2:172746433..172748218-chr2:172754634..172756631,2	K562	blood:
37	chr2:172737244..172739400-chr2:172984997..172987788,2	MCF-7	breast:
38	chr2:172692494..172694148-chr2:172705814..172708790,3	K562	blood:
39	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:
40	chr2:172720314..172722919-chr2:172744324..172746947,2	K562	blood:
41	chr2:172696413..172698762-chr2:172699806..172701539,2	K562	blood:
42	chr2:172707276..172709212-chr2:172750786..172752359,2	K562	blood:
43	chr2:172744912..172747525-chr2:172966003..172969811,3	K562	blood:
44	chr2:172700717..172702239-chr2:172709797..172711850,2	K562	blood:
45	chr2:172698622..172703344-chr2:172704675..172709046,4	K562	blood:
46	chr2:172692494..172694148-chr2:172705814..172708790,3	K562	blood:
47	chr2:172751399..172753053-chr2:172972072..172974852,2	MCF-7	breast:
48	chr2:172729575..172731751-chr2:172948719..172951234,2	K562	blood:
49	chr2:172749510..172752866-chr2:172752874..172756053,4	K562	blood:
50	chr2:172738739..172740537-chr2:172778754..172780412,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-182P	TF binding region
SLC25A12	TF binding region
RNU6-182P	CpG island
SLC25A12	CpG island
ENSG00000128708	chromatin interactions
ENSG00000172878	chromatin interactions
ENSG00000115844	chromatin interactions
ENSG00000236651	chromatin interactions
ENSG00000077380	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000170537	chromatin interactions
ENSG00000252779	chromatin interactions
ENSG00000144355	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000115840	chromatin interactions

Extended variants
information (count: 2183 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2183 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144283853	chr2:172691731-172691732	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74540230	chr2:172691740-172691741	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540239328	chr2:172691751-172691752	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538654424	chr2:172691780-172691781	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368972420	chr2:172691783-172691784	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550512229	chr2:172691846-172691847	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569230371	chr2:172691871-172691872	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144369791	chr2:172691893-172691894	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147855036	chr2:172692037-172692038	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs3770449	chr2:172692048-172692049	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534395837	chr2:172692069-172692070	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs376644687	chr2:172692178-172692179	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552802872	chr2:172692181-172692182	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs73976519	chr2:172692210-172692211	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62182376	chr2:172692225-172692226	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs3770448	chr2:172692265-172692266	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568524375	chr2:172692322-172692323	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542585608	chr2:172692401-172692402	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561235482	chr2:172692405-172692406	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528313452	chr2:172692423-172692424	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3770447	chr2:172692503-172692504	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565038905	chr2:172692617-172692618	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377646545	chr2:172692649-172692650	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs3836021	chr2:172692698-172692699	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543608511	chr2:172692700-172692701	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs184458481	chr2:172692725-172692726	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532439668	chr2:172692848-172692849	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550575470	chr2:172692873-172692874	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535397484	chr2:172692907-172692908	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142672121	chr2:172692912-172692913	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530084056	chr2:172692966-172692967	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548649159	chr2:172692968-172692969	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567113048	chr2:172692970-172692971	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534133140	chr2:172693037-172693038	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554928014	chr2:172693066-172693067	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73976520	chr2:172693102-172693103	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571383041	chr2:172693145-172693146	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538771605	chr2:172693151-172693152	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189234793	chr2:172693189-172693190	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575355220	chr2:172693208-172693209	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140696565	chr2:172693249-172693250	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369445770	chr2:172693296-172693297	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs150126804	chr2:172693331-172693332	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373758450	chr2:172693335-172693336	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374298437	chr2:172693393-172693394	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193298871	chr2:172693394-172693395	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143710128	chr2:172693402-172693403	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532160616	chr2:172693423-172693424	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs138419150	chr2:172693441-172693442	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112212613	chr2:172693443-172693444	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172681000-172695000	Weak transcription	Pancreas	Pancrea
2	chr2:172681800-172693800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:172682000-172694000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr2:172683400-172693800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr2:172683400-172694400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:172683600-172693800	Strong transcription	Left Ventricle	heart
7	chr2:172683800-172694200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:172684400-172694000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:172685600-172693000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172685600-172694600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:172685600-172694800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:172685800-172694000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:172686000-172694000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172686200-172691800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr2:172686200-172698800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:172686800-172693600	Strong transcription	Colon Smooth Muscle	Colon
17	chr2:172687000-172694600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr2:172687200-172692200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172687200-172693600	Strong transcription	Rectal Smooth Muscle	rectum
20	chr2:172687200-172694000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:172687400-172691800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:172687400-172693200	Strong transcription	Colonic Mucosa	Colon
23	chr2:172687400-172693400	Strong transcription	HSMMtube	muscle
24	chr2:172687400-172693800	Strong transcription	Brain Anterior Caudate	brain
25	chr2:172687400-172693800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr2:172687400-172693800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr2:172687400-172694000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:172687400-172694000	Strong transcription	Brain Cingulate Gyrus	brain
29	chr2:172687400-172694000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:172687400-172694000	Strong transcription	K562	blood
31	chr2:172687600-172693400	Strong transcription	Brain Hippocampus Middle	brain
32	chr2:172687600-172693600	Strong transcription	Adipose Nuclei	Adipose
33	chr2:172687600-172693800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:172687600-172693800	Strong transcription	Brain Angular Gyrus	brain
35	chr2:172688000-172693800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:172688400-172692200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:172688400-172693800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:172688400-172694000	Strong transcription	Fetal Thymus	thymus
39	chr2:172688600-172691800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:172688800-172693200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:172688800-172693800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:172688800-172693800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:172689000-172693600	Strong transcription	Placenta	Placenta
44	chr2:172689000-172694600	Strong transcription	HUVEC	blood vessel
45	chr2:172689000-172696400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:172689400-172691800	Strong transcription	HMEC	breast
47	chr2:172689400-172692200	Strong transcription	Osteobl	bone
48	chr2:172689400-172692800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:172689400-172693600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:172689400-172693800	Strong transcription	A549	lung

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