Variant report

Variant	nsv874469
Chromosome Location	chr2:85973618-86025251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1579)
CpG islands
(count:1956)
Chromatin interactive
region (count:94)
LncRNA
region (count:8)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:1579 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:85988835-85989005	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:85999496-85999612	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:85977734-85977934	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:86020980-86021546	HepG2	liver:	n/a	n/a
5	ATF2	chr2:85975085-85975497	GM12878	blood:	n/a	n/a
6	ATF2	chr2:86025055-86025393	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr2:85999342-86000012	A549	lung:	n/a	n/a
8	BACH1	chr2:85981198-85981350	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:85981784-85981898	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:85992303-85992668	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:85980430-85980766	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr2:85995878-85996066	H1-hESC	embryonic stem cell:	n/a	n/a
13	BCL11A	chr2:85975113-85975525	GM12878	blood:	n/a	n/a
14	BCL11A	chr2:85975197-85975423	GM12878	blood:	n/a	n/a
15	BCL3	chr2:85999122-85999997	A549	lung:	n/a	chr2:85999226-85999239 chr2:85999435-85999443
16	BCL3	chr2:85999377-85999939	A549	lung:	n/a	chr2:85999435-85999443
17	BCLAF1	chr2:85975174-85975610	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:85975089-85975559	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:85975117-85975512	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:85980706-85980906	GM12878	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
21	BHLHE40	chr2:85999428-85999808	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:85984054-85984345	HepG2	liver:	n/a	n/a
23	BHLHE40	chr2:86003323-86003330	A549	lung:	n/a	n/a
24	BHLHE40	chr2:85980635-85980830	K562	blood:	n/a	chr2:85980726-85980735 chr2:85980727-85980736 chr2:85980727-85980736
25	BHLHE40	chr2:85999467-85999825	A549	lung:	n/a	n/a
26	BHLHE40	chr2:85977721-85977939	K562	blood:	n/a	n/a
27	BHLHE40	chr2:85999634-85999735	K562	blood:	n/a	n/a
28	BRCA1	chr2:85978340-85978395	GM12878	blood:	n/a	n/a
29	BRCA1	chr2:85981007-85981009	GM12878	blood:	n/a	n/a
30	BRCA1	chr2:85977811-85977958	HepG2	liver:	n/a	n/a
31	BRCA1	chr2:85999321-85999857	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:85990312-85990655	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr2:85982923-85983231	IMR90	lung:	n/a	chr2:85983079-85983090
34	CEBPB	chr2:86019799-86020160	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:85983048-85983109	HepG2	liver:	n/a	chr2:85983079-85983090
36	CEBPB	chr2:86006900-86006924	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:86015601-86015714	HepG2	liver:	n/a	chr2:86015647-86015660
38	CEBPB	chr2:86006718-86007084	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr2:85982942-85983179	A549	lung:	n/a	chr2:85983079-85983090
40	CEBPB	chr2:85983045-85983129	Hela-S3	cervix:	n/a	chr2:85983079-85983090
41	CEBPB	chr2:85998894-85999840	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr2:86021133-86021479	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:85983074-85983135	K562	blood:	n/a	chr2:85983079-85983090
44	CEBPB	chr2:85998935-85999954	A549	lung:	n/a	n/a
45	CHD1	chr2:85998824-86000868	IMR90	lung:	n/a	n/a
46	CHD1	chr2:85981973-85982002	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
48	CHD2	chr2:85977790-85977943	HepG2	liver:	n/a	n/a
49	CHD2	chr2:85975219-85975489	GM12878	blood:	n/a	n/a
50	CHD2	chr2:86019915-86020160	Hela-S3	cervix:	n/a	n/a

(count:1956 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85992622-85992672	HRE	kidney:	n/a
2	chr2:85999873-85999923	A549	lung:	n/a
3	chr2:85980782-85980832	AG09309	skin:	n/a
4	chr2:85999628-85999678	GM12891	blood:	n/a
5	chr2:85992622-85992672	HRE	kidney:	n/a
6	chr2:85999873-85999923	A549	lung:	n/a
7	chr2:85980782-85980832	AG09309	skin:	n/a
8	chr2:85999628-85999678	GM12891	blood:	n/a
9	chr2:85980951-85981001	HRPEpiC	eye:	n/a
10	chr2:86024524-86024574	HCT-116	colon:	n/a
11	chr2:85977911-85977961	A549	lung:	n/a
12	chr2:85980500-85980550	AG09309	skin:	n/a
13	chr2:85998068-85998118	HRPEpiC	eye:	n/a
14	chr2:85998068-85998118	HCT-116	colon:	n/a
15	chr2:85980756-85980806	Caco-2	colon:	n/a
16	chr2:85980731-85980781	HCF	heart:	n/a
17	chr2:85998588-85998638	HEK293	kidney:	embryo
18	chr2:86022699-86022749	HepG2	liver:	n/a
19	chr2:85981962-85982012	GM12892	blood:	n/a
20	chr2:86007629-86007679	ovcar-3	ovarian:	n/a
21	chr2:85980756-85980806	GM06990	blood:	n/a
22	chr2:85999628-85999678	HNPCEpiC	eye:	n/a
23	chr2:86022699-86022749	NB4	blood:	n/a
24	chr2:85999498-85999548	CMK	blood:	n/a
25	chr2:85980044-85980094	RPTEC	kidney:	n/a
26	chr2:85980782-85980832	T-47D	breast:	n/a
27	chr2:85986186-85986236	PrEC	prostate:	n/a
28	chr2:85980500-85980550	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:85988369-85988419	NHDF-neo	bronchial:	n/a
30	chr2:86007629-86007679	SK-N-SH_RA	brain:	n/a
31	chr2:85999628-85999678	SAEC	small airway:	n/a
32	chr2:85980951-85981001	ProgFib	skin:	n/a
33	chr2:85998068-85998118	GM19239	blood:	n/a
34	chr2:85977911-85977961	ECC-1	luminal epithelium:	n/a
35	chr2:86017927-86017977	HMEC	breast:	n/a
36	chr2:86017927-86017977	K562	blood:	n/a
37	chr2:85986186-85986236	HCM	heart:	n/a
38	chr2:86012847-86012897	BJ	skin:	n/a
39	chr2:85980756-85980806	IMR90	lung:	fetal
40	chr2:85982197-85982247	HRPEpiC	eye:	n/a
41	chr2:86012225-86012275	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:86024524-86024574	MCF10A-Er-Src	breast:	n/a
43	chr2:86012225-86012275	GM12878	blood:	n/a
44	chr2:85981021-85981071	AG09309	skin:	n/a
45	chr2:85981021-85981071	GM06990	blood:	n/a
46	chr2:85999873-85999923	AG09319	gingival:	n/a
47	chr2:85980609-85980659	HEEpiC	esophagus:	n/a
48	chr2:85982551-85982601	HCF	heart:	n/a
49	chr2:85982551-85982601	IMR90	lung:	fetal
50	chr2:85998068-85998118	GM12878	blood:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:86013683..86016312-chr2:86025949..86028304,2	MCF-7	breast:
2	chr2:85962517..85964339-chr2:85996899..85999764,2	MCF-7	breast:
3	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:
4	chr2:85981986..85982944-chr2:86031490..86032404,2	MCF-7	breast:
5	chr2:86007953..86010891-chr2:86015873..86017457,2	MCF-7	breast:
6	chr2:85964549..85967309-chr2:85973437..85975079,2	K562	blood:
7	chr18:42806789..42809116-chr2:86000969..86003302,2	MCF-7	breast:
8	chr2:85982980..85985381-chr2:86007826..86009347,2	K562	blood:
9	chr2:85899004..85901888-chr2:85989811..85991933,2	MCF-7	breast:
10	chr2:86005755..86007502-chr2:86009550..86012343,2	K562	blood:
11	chr2:85980611..85983485-chr2:86014274..86016062,2	MCF-7	breast:
12	chr2:85977304..85978300-chr2:86041004..86041953,11	MCF-7	breast:
13	chr2:85971555..85973633-chr2:85979812..85981943,2	K562	blood:
14	chr2:85981466..85983432-chr2:85998225..85999841,2	MCF-7	breast:
15	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
16	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:
17	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
18	chr2:86015379..86018037-chr2:86020333..86023146,3	MCF-7	breast:
19	chr2:85989917..85993093-chr2:85993435..85996690,4	MCF-7	breast:
20	chr2:85998096..86001212-chr2:86021812..86025448,3	MCF-7	breast:
21	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
22	chr2:85995032..85998218-chr2:85998499..86001360,4	MCF-7	breast:
23	chr2:86015229..86018634-chr2:86021632..86024903,4	K562	blood:
24	chr2:85988970..85991033-chr2:86009330..86011964,2	K562	blood:
25	chr2:85983926..85985440-chr2:85991630..85993543,2	K562	blood:
26	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:
27	chr2:85976940..85977835-chr2:85988194..85989005,2	K562	blood:
28	chr2:86007675..86009231-chr2:86011148..86013060,2	MCF-7	breast:
29	chr2:85985810..85988014-chr2:85988688..85991326,2	MCF-7	breast:
30	chr2:85997012..86000139-chr2:86001257..86004684,4	MCF-7	breast:
31	chr2:85914382..85917156-chr2:85991881..85994505,2	MCF-7	breast:
32	chr2:85977427..85978425-chr2:86024880..86025694,8	MCF-7	breast:
33	chr2:86012601..86015321-chr2:86017209..86019068,2	K562	blood:
34	chr2:85983926..85985440-chr2:85991630..85993543,2	K562	blood:
35	chr2:85997689..85999503-chr2:86015915..86018374,2	MCF-7	breast:
36	chr2:85974895..85977251-chr2:85979669..85982640,2	MCF-7	breast:
37	chr2:86001369..86004244-chr2:86027552..86029124,2	MCF-7	breast:
38	chr2:85977427..85978425-chr2:86024880..86025694,8	MCF-7	breast:
39	chr2:86024028..86026534-chr2:86035288..86037420,2	K562	blood:
40	chr2:85988970..85991033-chr2:86009330..86011964,2	K562	blood:
41	chr2:86007740..86010052-chr2:86013062..86015438,2	K562	blood:
42	chr2:85995337..85997377-chr2:86000338..86004148,3	K562	blood:
43	chr2:86011226..86014071-chr2:86015355..86018702,3	K562	blood:
44	chr2:86025084..86025806-chr2:86041078..86041588,2	MCF-7	breast:
45	chr2:85977766..85978267-chr2:86041056..86041985,2	K562	blood:
46	chr2:85976940..85977835-chr2:85988194..85989005,2	K562	blood:
47	chr2:85978299..85982143-chr2:85985219..85987371,3	K562	blood:
48	chr2:85977777..85978300-chr2:85999453..86000129,2	MCF-7	breast:
49	chr2:85820402..85822148-chr2:85985989..85987607,2	K562	blood:
50	chr2:86005755..86007502-chr2:86009550..86012343,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATOH8-3	chr2:85974864-85975170	l_1877_chr2:85969788-85975170_thyroid
2	lnc-GNLY-4	chr2:86008157-86008289	NONHSAT072050
3	lnc-ATOH8-3	chr2:85974438-85974844	l_1877_chr2:85969788-85975170_thyroid
4	lnc-ATOH8-3	chr2:85994919-85995836	l_1877_chr2:85969788-85975170_thyroid
5	lnc-ATOH8-3	chr2:85984506-85985437	l_1877_chr2:85969788-85975170_thyroid
6	lnc-GNLY-4	chr2:86014008-86015162	NONHSAT072050
7	lnc-ATOH8-3	chr2:85995837-85997833	l_1877_chr2:85969788-85975170_thyroid
8	lnc-ATOH8-3	chr2:85985442-85986185	l_1877_chr2:85969788-85975170_thyroid

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6071	chr2:86010780-86010798	MIMAT0023696

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATOH8	hsa-miR-193b-3p	chr2:86015050-86015057

Variant related genes	Relation type
ATOH8	TF binding region
ATOH8	CpG island
ENSG00000168874	chromatin interactions

Extended variants
information (count: 2091 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2091 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10172667	chr2:85973618-85973619	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72926971	chr2:85973633-85973634	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561613878	chr2:85973674-85973675	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528784001	chr2:85973713-85973714	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547005564	chr2:85973880-85973881	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368382399	chr2:85973923-85973924	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189065352	chr2:85973932-85973933	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116713440	chr2:85973937-85973938	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192173719	chr2:85973944-85973945	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs732155	chr2:85973993-85973994	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs565982595	chr2:85974016-85974017	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138620947	chr2:85974054-85974055	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536801565	chr2:85974111-85974112	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184748666	chr2:85974134-85974135	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189522518	chr2:85974155-85974156	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141523869	chr2:85974156-85974157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs33975783	chr2:85974251-85974252	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2004178	chr2:85974253-85974254	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531902628	chr2:85974269-85974270	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552547449	chr2:85974297-85974298	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180759733	chr2:85974313-85974314	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563333478	chr2:85974345-85974346	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528662688	chr2:85974346-85974347	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146190379	chr2:85974355-85974356	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543283752	chr2:85974397-85974398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139005934	chr2:85974409-85974410	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540866021	chr2:85974420-85974421	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528822518	chr2:85974442-85974443	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs185995704	chr2:85974446-85974447	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs189298463	chr2:85974471-85974472	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs537940309	chr2:85974531-85974532	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs115602452	chr2:85974544-85974545	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs2009485	chr2:85974549-85974550	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142210808	chr2:85974603-85974604	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs536081040	chr2:85974627-85974628	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs374680511	chr2:85974632-85974633	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs554140747	chr2:85974709-85974710	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs569057882	chr2:85974791-85974792	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs375047180	chr2:85974824-85974825	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs62163135	chr2:85974847-85974848	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536338452	chr2:85974858-85974859	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs76329898	chr2:85974894-85974895	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs567102166	chr2:85974903-85974904	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs545441314	chr2:85974919-85974920	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs552960304	chr2:85974932-85974933	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs547795568	chr2:85974967-85974968	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs538211306	chr2:85974985-85974986	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs556985249	chr2:85974999-85975000	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs575443652	chr2:85975008-85975009	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs1568310	chr2:85975013-85975014	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2787 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
2	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
3	chr2:85968200-85974200	Enhancers	Right Atrium	heart
4	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
6	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr2:85970400-85974000	Enhancers	Fetal Lung	lung
8	chr2:85970400-85974000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:85971200-85974200	Enhancers	A549	lung
10	chr2:85971600-85975400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
12	chr2:85972200-85976200	Weak transcription	Gastric	stomach
13	chr2:85972400-85975800	Weak transcription	Hela-S3	cervix
14	chr2:85972400-85976200	Weak transcription	Stomach Mucosa	stomach
15	chr2:85972400-85976800	Enhancers	Primary B cells from cord blood	blood
16	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:85972600-85973800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr2:85972600-85973800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr2:85972600-85974000	Enhancers	NHDF-Ad	bronchial
20	chr2:85972800-85973800	Enhancers	Adipose Nuclei	Adipose
21	chr2:85972800-85973800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:85972800-85973800	Enhancers	Ovary	ovary
23	chr2:85972800-85973800	Enhancers	Psoas Muscle	Psoas
24	chr2:85972800-85973800	Weak transcription	GM12878-XiMat	blood
25	chr2:85972800-85974000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:85972800-85974000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:85972800-85974200	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:85972800-85974800	Enhancers	Brain Substantia Nigra	brain
29	chr2:85972800-85975400	Weak transcription	Liver	Liver
30	chr2:85972800-85975600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:85972800-85975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:85972800-85976000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:85973000-85973800	Enhancers	Brain Anterior Caudate	brain
35	chr2:85973000-85973800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:85973000-85973800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:85973000-85973800	Enhancers	Stomach Smooth Muscle	stomach
38	chr2:85973000-85973800	Enhancers	HSMM	muscle
39	chr2:85973000-85973800	Enhancers	NHLF	lung
40	chr2:85973000-85974000	Enhancers	Osteobl	bone
41	chr2:85973000-85974200	Enhancers	Fetal Thymus	thymus
42	chr2:85973000-85974800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr2:85973000-85975000	Weak transcription	HSMMtube	muscle
44	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
45	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:85973200-85974200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:85973200-85974800	Weak transcription	Fetal Heart	heart
48	chr2:85973200-85976000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:85973400-85973800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:85973400-85973800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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