Variant report

Variant	nsv899547
Chromosome Location	chr12:118791441-118896304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2851)
CpG islands
(count:1893)
Chromatin interactive
region (count:110)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2851 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118813876-118814346	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:118794909-118797601	K562	blood:	n/a	chr12:118795855-118795871 chr12:118795856-118795872
3	ARID3A	chr12:118798421-118799202	K562	blood:	n/a	n/a
4	ARID3A	chr12:118815681-118816079	K562	blood:	n/a	n/a
5	ARID3A	chr12:118815583-118816055	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:118810578-118811876	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:118810643-118811180	K562	blood:	n/a	n/a
8	ARID3A	chr12:118808416-118809065	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:118809182-118809184	K562	blood:	n/a	n/a
10	ARID3A	chr12:118847706-118848053	K562	blood:	n/a	n/a
11	ARID3A	chr12:118813946-118814337	K562	blood:	n/a	n/a
12	ARID3A	chr12:118812842-118813435	K562	blood:	n/a	chr12:118813112-118813128 chr12:118813111-118813127
13	ARID3A	chr12:118834567-118834571	HepG2	liver:	n/a	n/a
14	ATF1	chr12:118795123-118795665	K562	blood:	n/a	n/a
15	ATF1	chr12:118847683-118847987	K562	blood:	n/a	n/a
16	ATF1	chr12:118810712-118811080	K562	blood:	n/a	n/a
17	ATF1	chr12:118866965-118867088	K562	blood:	n/a	n/a
18	ATF2	chr12:118813800-118814322	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr12:118792682-118793158	GM12878	blood:	n/a	n/a
20	ATF2	chr12:118810637-118811211	GM12878	blood:	n/a	n/a
21	ATF2	chr12:118794642-118795906	GM12878	blood:	n/a	n/a
22	ATF2	chr12:118813918-118814374	GM12878	blood:	n/a	n/a
23	ATF2	chr12:118794992-118795693	GM12878	blood:	n/a	n/a
24	ATF2	chr12:118813806-118814368	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr12:118813878-118814410	GM12878	blood:	n/a	n/a
26	ATF2	chr12:118810570-118811163	GM12878	blood:	n/a	n/a
27	ATF3	chr12:118798626-118798938	K562	blood:	n/a	n/a
28	ATF3	chr12:118813771-118814361	A549	lung:	n/a	chr12:118814337-118814346
29	ATF3	chr12:118813769-118814464	A549	lung:	n/a	chr12:118814337-118814346
30	ATF3	chr12:118813988-118814343	K562	blood:	n/a	n/a
31	BACH1	chr12:118814071-118814314	K562	blood:	n/a	n/a
32	BACH1	chr12:118815610-118815847	K562	blood:	n/a	n/a
33	BACH1	chr12:118810443-118810777	H1-hESC	embryonic stem cell:	n/a	n/a
34	BATF	chr12:118813945-118814313	GM12878	blood:	n/a	n/a
35	BCL3	chr12:118813646-118814480	A549	lung:	n/a	chr12:118814333-118814346 chr12:118814157-118814166 chr12:118814011-118814020 chr12:118814345-118814354 chr12:118814053-118814066
36	BCL3	chr12:118813861-118814479	A549	lung:	n/a	chr12:118814333-118814346 chr12:118814157-118814166 chr12:118814011-118814020 chr12:118814345-118814354 chr12:118814053-118814066
37	BCL3	chr12:118810384-118811313	A549	lung:	n/a	chr12:118810673-118810686 chr12:118810676-118810689 chr12:118810679-118810692 chr12:118810678-118810687 chr12:118810672-118810685 chr12:118810694-118810703 chr12:118810643-118810656
38	BCLAF1	chr12:118813804-118814417	K562	blood:	n/a	chr12:118814333-118814346 chr12:118814157-118814166 chr12:118814011-118814020 chr12:118814345-118814354 chr12:118814053-118814066
39	BCLAF1	chr12:118813789-118814551	GM12878	blood:	n/a	chr12:118814333-118814346 chr12:118814157-118814166 chr12:118814011-118814020 chr12:118814345-118814354 chr12:118814053-118814066
40	BCLAF1	chr12:118810392-118811149	GM12878	blood:	n/a	chr12:118810673-118810686 chr12:118810676-118810689 chr12:118810679-118810692 chr12:118810678-118810687 chr12:118810672-118810685 chr12:118810694-118810703 chr12:118810643-118810656
41	BCLAF1	chr12:118813811-118814434	GM12878	blood:	n/a	chr12:118814333-118814346 chr12:118814157-118814166 chr12:118814011-118814020 chr12:118814345-118814354 chr12:118814053-118814066
42	BHLHE40	chr12:118810459-118811205	HepG2	liver:	n/a	chr12:118810679-118810695 chr12:118810673-118810689 chr12:118810676-118810692
43	BHLHE40	chr12:118815722-118815989	K562	blood:	n/a	n/a
44	BHLHE40	chr12:118796819-118797369	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:118795076-118795764	K562	blood:	n/a	n/a
46	BHLHE40	chr12:118813661-118814419	GM12878	blood:	n/a	chr12:118814111-118814127
47	BHLHE40	chr12:118795037-118795902	GM12878	blood:	n/a	n/a
48	BHLHE40	chr12:118810306-118811576	GM12878	blood:	n/a	chr12:118810679-118810695 chr12:118810673-118810689 chr12:118810676-118810692
49	BHLHE40	chr12:118796809-118797027	K562	blood:	n/a	n/a
50	BHLHE40	chr12:118813842-118814387	K562	blood:	n/a	chr12:118814111-118814127

(count:1893 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118810773-118810823	PrEC	prostate:	n/a
2	chr12:118810789-118810839	BE2_C	brain:	n/a
3	chr12:118810773-118810823	PrEC	prostate:	n/a
4	chr12:118810789-118810839	BE2_C	brain:	n/a
5	chr12:118809462-118809512	SKMC	muscle:	n/a
6	chr12:118806439-118806489	NT2-D1	testis:	n/a
7	chr12:118810773-118810823	IMR90	lung:	fetal
8	chr12:118815886-118815936	SK-N-MC	brain:	n/a
9	chr12:118811074-118811124	GM12892	blood:	n/a
10	chr12:118809462-118809512	HUVEC	blood vessel:	n/a
11	chr12:118813933-118813983	HIPEpiC	eye:	n/a
12	chr12:118806439-118806489	LNCaP	prostate:	n/a
13	chr12:118818345-118818395	SK-N-SH_RA	brain:	n/a
14	chr12:118813907-118813957	HNPCEpiC	eye:	n/a
15	chr12:118813933-118813983	PFSK-1	brain:	n/a
16	chr12:118809648-118809698	ovcar-3	ovarian:	n/a
17	chr12:118810750-118810800	NHBE	bronchial:	n/a
18	chr12:118810763-118810813	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:118814825-118814875	HL-60	blood:	n/a
20	chr12:118806439-118806489	BJ	skin:	n/a
21	chr12:118810763-118810813	HAEpiC	amniotic membrane:	n/a
22	chr12:118814505-118814555	SKMC	muscle:	n/a
23	chr12:118808298-118808348	SKMC	muscle:	n/a
24	chr12:118815886-118815936	U87	brain:	n/a
25	chr12:118806439-118806489	AG04450	lung:	fetal
26	chr12:118811074-118811124	HEEpiC	esophagus:	n/a
27	chr12:118810441-118810491	PrEC	prostate:	n/a
28	chr12:118810744-118810794	MCF10A-Er-Src	breast:	n/a
29	chr12:118817039-118817089	Jurkat	blood:	n/a
30	chr12:118854318-118854368	GM06990	blood:	n/a
31	chr12:118806439-118806489	ovcar-3	ovarian:	n/a
32	chr12:118810744-118810794	HEEpiC	esophagus:	n/a
33	chr12:118797027-118797077	U87	brain:	n/a
34	chr12:118814304-118814354	HCF	heart:	n/a
35	chr12:118810744-118810794	PrEC	prostate:	n/a
36	chr12:118813907-118813957	T-47D	breast:	n/a
37	chr12:118810441-118810491	HAEpiC	amniotic membrane:	n/a
38	chr12:118814825-118814875	Hela-S3	cervix:	n/a
39	chr12:118810441-118810491	GM19239	blood:	n/a
40	chr12:118808298-118808348	HCM	heart:	n/a
41	chr12:118806439-118806489	SK-N-MC	brain:	n/a
42	chr12:118809325-118809375	HRPEpiC	eye:	n/a
43	chr12:118810750-118810800	SK-N-SH_RA	brain:	n/a
44	chr12:118809648-118809698	Hepatocyte	liver:	n/a
45	chr12:118811074-118811124	BJ	skin:	n/a
46	chr12:118808298-118808348	HEEpiC	esophagus:	n/a
47	chr12:118815886-118815936	BE2_C	brain:	n/a
48	chr12:118797027-118797077	AG09319	gingival:	n/a
49	chr12:118813907-118813957	HEK293	kidney:	embryo
50	chr12:118811074-118811124	NHBE	bronchial:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:118842442..118843019-chr12:119982575..119983400,2	K562	blood:
2	chr12:118497374..118499405-chr12:118794577..118796696,2	K562	blood:
3	chr12:118827680..118830142-chr12:118830318..118832919,2	MCF-7	breast:
4	chr12:118558717..118560861-chr12:118811542..118813614,2	K562	blood:
5	chr12:118577698..118580180-chr12:118811113..118813216,2	MCF-7	breast:
6	chr12:118604051..118606436-chr12:118810994..118813151,2	MCF-7	breast:
7	chr12:118791808..118793496-chr12:118793653..118795159,2	K562	blood:
8	chr12:118638724..118640594-chr12:118810784..118812979,2	K562	blood:
9	chr12:118883772..118884730-chr12:119060191..119061108,3	MCF-7	breast:
10	chr12:118789460..118791189-chr12:118792284..118794787,2	K562	blood:
11	chr12:118835179..118836735-chr12:118843288..118845145,2	MCF-7	breast:
12	chr12:118873972..118874726-chr12:119474831..119475363,2	MCF-7	breast:
13	chr12:118842874..118843382-chr12:119458257..119458788,2	K562	blood:
14	chr12:118558650..118559238-chr12:118815357..118816296,2	MCF-7	breast:
15	chr12:118620159..118620747-chr12:118814583..118815397,2	MCF-7	breast:
16	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
17	chr12:118795944..118799029-chr12:118813367..118816891,5	K562	blood:
18	chr12:118842493..118843365-chr12:119060157..119061106,4	MCF-7	breast:
19	chr12:118812421..118814755-chr12:118815512..118818028,2	MCF-7	breast:
20	chr12:118823795..118826006-chr12:118834005..118836588,2	MCF-7	breast:
21	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:
22	chr12:118809522..118812617-chr12:118817842..118821161,3	MCF-7	breast:
23	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
24	chr12:118812486..118814761-chr12:120105257..120106996,2	K562	blood:
25	chr12:118799005..118800593-chr12:118802785..118804856,2	K562	blood:
26	chr12:118801970..118805772-chr12:118808206..118812909,6	MCF-7	breast:
27	chr12:6862398..6862976-chr12:118810719..118811300,2	HCT-116	colon:
28	chr12:118822689..118824597-chr12:118829112..118830788,2	MCF-7	breast:
29	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
30	chr12:118823795..118826006-chr12:118834005..118836588,2	MCF-7	breast:
31	chr12:118827680..118830142-chr12:118830318..118832919,2	MCF-7	breast:
32	chr12:118810213..118810955-chr16:2205143..2205838,2	NB4	blood:
33	chr12:118834411..118836226-chr12:118855640..118858351,2	K562	blood:
34	chr12:118795944..118799029-chr12:118813367..118816891,5	K562	blood:
35	chr12:118795210..118796886-chr12:118801131..118803860,2	K562	blood:
36	chr12:118791808..118793496-chr12:118793653..118795159,2	K562	blood:
37	chr12:118815844..118816667-chr12:118842246..118843003,2	K562	blood:
38	chr12:118813190..118814795-chr12:118818038..118819892,2	MCF-7	breast:
39	chr12:118819724..118821444-chr12:118824674..118826328,2	K562	blood:
40	chr12:118819053..118819954-chr12:118849536..118850386,2	K562	blood:
41	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:
42	chr12:118787708..118789568-chr12:118793165..118794977,2	MCF-7	breast:
43	chr12:118842456..118843402-chr12:119474125..119474951,3	MCF-7	breast:
44	chr12:118821775..118824267-chr12:118842458..118843990,2	MCF-7	breast:
45	chr12:118796352..118799029-chr12:118814094..118816699,2	K562	blood:
46	chr12:118815844..118816667-chr12:118842246..118843003,2	K562	blood:
47	chr12:118749913..118751885-chr12:118794829..118796895,2	K562	blood:
48	chr12:118822778..118824294-chr12:118826163..118828667,2	MCF-7	breast:
49	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:
50	chr12:118602638..118603497-chr12:118815737..118816345,4	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUDS3-1	chr12:118875923-118875945	l_738_chr12:118861629-118875945_testes
2	lnc-SUDS3-1	chr12:118867635-118867734	l_738_chr12:118861629-118875945_testes
3	lnc-TAOK3-8	chr12:118813155-118813596	ENSG00000270482.1
4	lnc-TAOK3-8	chr12:118813912-118814080	ENSG00000270482.1
5	lnc-SUDS3-1	chr12:118861630-118861787	l_738_chr12:118861629-118875945_testes
6	lnc-VSIG10-4	chr12:118810453-118810698	NONHSAT031036

No data

Variant related genes	Relation type
SUDS3	TF binding region
ENSG00000270482	TF binding region
TAOK3	TF binding region
SUDS3	CpG island
ENSG00000270482	CpG island
TAOK3	CpG island
ENSG00000221280	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000155876	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000111707	chromatin interactions
ENSG00000176871	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000141738	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000135090	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000089220	chromatin interactions
ENSG00000270482	chromatin interactions
ENSG00000248636	chromatin interactions
ENSG00000111725	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000176834	chromatin interactions

Extended variants
information (count: 3462 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3462 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs673078	chr12:118791441-118791442	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527833929	chr12:118791459-118791460	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs547823026	chr12:118791498-118791499	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs567939939	chr12:118791505-118791506	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs73412981	chr12:118791516-118791517	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369657689	chr12:118791561-118791562	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549732009	chr12:118791585-118791586	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs569644759	chr12:118791586-118791587	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs567565067	chr12:118791606-118791607	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs538755536	chr12:118791610-118791611	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs531178291	chr12:118791644-118791645	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558644344	chr12:118791649-118791650	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs185374356	chr12:118791651-118791652	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs578128040	chr12:118791670-118791671	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs543879279	chr12:118791728-118791729	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534811905	chr12:118791729-118791730	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549727912	chr12:118791767-118791768	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs16948262	chr12:118791771-118791772	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139434263	chr12:118791792-118791793	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs17512609	chr12:118791877-118791878	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs556541900	chr12:118791996-118791997	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs181514640	chr12:118792016-118792017	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs187104833	chr12:118792020-118792021	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs58958883	chr12:118792029-118792030	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565036602	chr12:118792044-118792045	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527921162	chr12:118792054-118792055	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs146723626	chr12:118792081-118792082	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs146609474	chr12:118792162-118792163	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs530447198	chr12:118792198-118792199	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559792051	chr12:118792232-118792233	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs2650180	chr12:118792259-118792260	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs34670406	chr12:118792261-118792262	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs550175549	chr12:118792293-118792294	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs12231358	chr12:118792295-118792296	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532095639	chr12:118792298-118792299	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566677082	chr12:118792355-118792356	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs75770588	chr12:118792364-118792365	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs547395061	chr12:118792388-118792389	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565768807	chr12:118792409-118792410	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs564283406	chr12:118792440-118792441	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534549960	chr12:118792471-118792472	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs11068918	chr12:118792478-118792479	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568132541	chr12:118792515-118792516	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs537365650	chr12:118792521-118792522	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556792542	chr12:118792537-118792538	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs371055795	chr12:118792666-118792667	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576075476	chr12:118792667-118792668	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs538638119	chr12:118792684-118792685	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs117560423	chr12:118792700-118792701	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs572189409	chr12:118792701-118792702	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3259 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118774000-118792400	Weak transcription	Dnd41	blood
3	chr12:118775800-118792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:118776200-118792000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:118781000-118793600	Weak transcription	NHEK	skin
7	chr12:118783600-118792200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:118783600-118793000	Weak transcription	Osteobl	bone
9	chr12:118783600-118794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:118784200-118793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:118785000-118792600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:118785000-118794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:118785400-118792200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:118785400-118793000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:118785400-118794600	Weak transcription	Aorta	Aorta
16	chr12:118786000-118793400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:118786000-118794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:118786200-118791600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:118786200-118793400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:118786200-118793400	Weak transcription	Stomach Mucosa	stomach
21	chr12:118786200-118793600	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:118786200-118793600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:118786200-118793800	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:118786600-118793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:118786800-118792000	Weak transcription	Fetal Intestine Small	intestine
26	chr12:118789200-118793200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:118789200-118793600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:118789400-118793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:118789600-118793200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:118790400-118791600	Enhancers	HepG2	liver
31	chr12:118790400-118792200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:118790400-118792200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:118790400-118792600	Strong transcription	Primary T cells from cord blood	blood
34	chr12:118790400-118792600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:118790600-118791600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:118790600-118792000	Weak transcription	HSMM	muscle
37	chr12:118790600-118792200	Enhancers	Fetal Lung	lung
38	chr12:118790600-118792400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr12:118790800-118792200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:118791000-118791600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:118791000-118791600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:118791000-118791600	Enhancers	Brain Angular Gyrus	brain
43	chr12:118791000-118791600	Genic enhancers	K562	blood
44	chr12:118791000-118791600	Enhancers	NHLF	lung
45	chr12:118791000-118791800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:118791000-118792200	Strong transcription	Primary B cells from cord blood	blood
47	chr12:118791000-118792400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr12:118791000-118793000	Weak transcription	NH-A	brain
49	chr12:118791000-118793200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:118791000-118793200	Weak transcription	Liver	Liver

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