Variant report

Variant	esv1836581
Chromosome Location	chr12:104531180-104558476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:790)
CpG islands
(count:488)
Chromatin interactive
region (count:59)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:104531844-104532097	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:104549428-104549945	K562	blood:	n/a	n/a
3	ATF1	chr12:104548203-104548427	K562	blood:	n/a	n/a
4	ATF2	chr12:104531677-104532104	GM12878	blood:	n/a	n/a
5	ATF2	chr12:104531766-104532062	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr12:104531777-104532351	A549	lung:	n/a	n/a
7	BACH1	chr12:104531077-104531218	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr12:104531839-104532100	GM12878	blood:	n/a	n/a
9	BCL3	chr12:104531716-104532463	A549	lung:	n/a	chr12:104532036-104532045 chr12:104532401-104532410 chr12:104532174-104532183
10	BCLAF1	chr12:104531764-104532118	GM12878	blood:	n/a	chr12:104532036-104532045
11	BCLAF1	chr12:104531731-104532209	GM12878	blood:	n/a	chr12:104532036-104532045 chr12:104532174-104532183
12	BCLAF1	chr12:104530703-104531373	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:104531797-104532337	K562	blood:	n/a	n/a
14	BHLHE40	chr12:104531274-104531321	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:104531679-104532329	HepG2	liver:	n/a	n/a
16	BHLHE40	chr12:104531812-104532099	GM12878	blood:	n/a	n/a
17	BRCA1	chr12:104532312-104532329	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr12:104532027-104532072	GM12878	blood:	n/a	n/a
19	BRCA1	chr12:104531864-104532064	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr12:104531880-104532070	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr12:104532366-104532463	HepG2	liver:	n/a	n/a
22	CBX3	chr12:104531726-104532544	HCT-116	colon:	n/a	n/a
23	CBX3	chr12:104532099-104532313	K562	blood:	n/a	n/a
24	CBX3	chr12:104531739-104532735	K562	blood:	n/a	n/a
25	CCNT2	chr12:104531162-104532555	K562	blood:	n/a	chr12:104531268-104531277
26	CCNT2	chr12:104548815-104549179	K562	blood:	n/a	n/a
27	CEBPB	chr12:104535283-104535476	HepG2	liver:	n/a	chr12:104535316-104535327
28	CEBPB	chr12:104531877-104532046	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr12:104548315-104548507	K562	blood:	n/a	n/a
30	CEBPB	chr12:104548375-104548376	HepG2	liver:	n/a	n/a
31	CEBPB	chr12:104531828-104532155	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:104550478-104550593	A549	lung:	n/a	n/a
33	CEBPD	chr12:104531997-104532367	HepG2	liver:	n/a	n/a
34	CEBPD	chr12:104531053-104531540	HepG2	liver:	n/a	n/a
35	CEBPD	chr12:104531596-104531953	HepG2	liver:	n/a	n/a
36	CHD1	chr12:104530515-104531269	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr12:104531530-104531992	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr12:104530868-104532056	GM12878	blood:	n/a	n/a
39	CHD2	chr12:104531722-104532380	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr12:104531768-104532683	K562	blood:	n/a	n/a
41	CHD2	chr12:104531788-104532527	HepG2	liver:	n/a	n/a
42	CHD2	chr12:104531081-104531332	GM12878	blood:	n/a	n/a
43	CHD2	chr12:104531781-104532351	GM12878	blood:	n/a	n/a
44	CHD2	chr12:104531776-104532367	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr12:104556925-104557060	K562	blood:	n/a	n/a
46	CREB1	chr12:104531759-104532301	GM12878	blood:	n/a	n/a
47	CREB1	chr12:104531728-104532290	HepG2	liver:	n/a	n/a
48	CREB1	chr12:104531738-104532379	K562	blood:	n/a	n/a
49	CREB1	chr12:104531748-104532073	A549	lung:	n/a	n/a
50	CREB1	chr12:104531774-104532259	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:104536393-104536443	SKMC	muscle:	n/a
2	chr12:104531175-104531225	HL-60	blood:	n/a
3	chr12:104532011-104532061	AoSMC	blood vessel:	n/a
4	chr12:104532524-104532574	NT2-D1	testis:	n/a
5	chr12:104532339-104532389	SKMC	muscle:	n/a
6	chr12:104531175-104531225	HPAEpiC	pulmonary alveolar:	n/a
7	chr12:104531175-104531225	SK-N-SH_RA	brain:	n/a
8	chr12:104532524-104532574	SKMC	muscle:	n/a
9	chr12:104532011-104532061	GM12891	blood:	n/a
10	chr12:104532907-104532957	MCF-7	breast:	n/a
11	chr12:104531891-104531941	BE2_C	brain:	n/a
12	chr12:104532339-104532389	U87	brain:	n/a
13	chr12:104532907-104532957	Hela-S3	cervix:	n/a
14	chr12:104532377-104532427	LNCaP	prostate:	n/a
15	chr12:104531175-104531225	PrEC	prostate:	n/a
16	chr12:104531175-104531225	AG04449	skin:	fetal
17	chr12:104531891-104531941	HRE	kidney:	n/a
18	chr12:104532339-104532389	NHDF-neo	bronchial:	n/a
19	chr12:104532339-104532389	AG09309	skin:	n/a
20	chr12:104532011-104532061	CMK	blood:	n/a
21	chr12:104532011-104532061	ovcar-3	ovarian:	n/a
22	chr12:104531891-104531941	SKMC	muscle:	n/a
23	chr12:104532524-104532574	Caco-2	colon:	n/a
24	chr12:104536393-104536443	AG04450	lung:	fetal
25	chr12:104532377-104532427	ECC-1	luminal epithelium:	n/a
26	chr12:104532011-104532061	HAEpiC	amniotic membrane:	n/a
27	chr12:104532339-104532389	AG10803	skin:	n/a
28	chr12:104531891-104531941	RPTEC	kidney:	n/a
29	chr12:104532377-104532427	NB4	blood:	n/a
30	chr12:104531891-104531941	HMEC	breast:	n/a
31	chr12:104536393-104536443	HMEC	breast:	n/a
32	chr12:104532907-104532957	HUVEC	blood vessel:	n/a
33	chr12:104532907-104532957	GM19239	blood:	n/a
34	chr12:104532377-104532427	ovcar-3	ovarian:	n/a
35	chr12:104531175-104531225	GM06990	blood:	n/a
36	chr12:104532377-104532427	SK-N-SH	brain:	n/a
37	chr12:104531891-104531941	SK-N-SH	brain:	n/a
38	chr12:104531891-104531941	GM12878	blood:	n/a
39	chr12:104532011-104532061	AG09309	skin:	n/a
40	chr12:104532907-104532957	HCT-116	colon:	n/a
41	chr12:104532011-104532061	HCM	heart:	n/a
42	chr12:104531175-104531225	ProgFib	skin:	n/a
43	chr12:104532524-104532574	K562	blood:	n/a
44	chr12:104532377-104532427	AG04449	skin:	fetal
45	chr12:104532377-104532427	HCF	heart:	n/a
46	chr12:104531891-104531941	PANC-1	pancreas:	n/a
47	chr12:104532524-104532574	GM12891	blood:	n/a
48	chr12:104532377-104532427	GM06990	blood:	n/a
49	chr12:104531175-104531225	AG04450	lung:	fetal
50	chr12:104532377-104532427	HMEC	breast:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:104530429..104534144-chr12:104679811..104684673,6	MCF-7	breast:
2	chr12:104234047..104236214-chr12:104531313..104532962,2	MCF-7	breast:
3	chr12:104536331..104537899-chr12:104541231..104543008,2	K562	blood:
4	chr1:167905681..167906352-chr12:104531146..104532073,2	Hela-S3	cervix:
5	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
6	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
7	chr12:104530239..104532383-chr12:105499797..105502736,2	MCF-7	breast:
8	chr12:104534231..104536425-chr12:104537537..104539299,2	K562	blood:
9	chr12:104356409..104362053-chr12:104528975..104533138,7	MCF-7	breast:
10	chr12:104531360..104532346-chr4:185395679..185396224,2	Hela-S3	cervix:
11	chr12:104529888..104531745-chr12:104641591..104644080,2	MCF-7	breast:
12	chr12:104553666..104555639-chr12:104557708..104559504,2	K562	blood:
13	chr12:104542011..104544016-chr12:104556575..104558622,2	MCF-7	breast:
14	chr12:104531449..104532221-chr9:72873633..72874142,2	Hela-S3	cervix:
15	chr12:104534231..104536425-chr12:104537537..104539299,2	K562	blood:
16	chr12:104357850..104359549-chr12:104531019..104533949,2	K562	blood:
17	chr12:104481200..104483346-chr12:104529918..104531545,2	K562	blood:
18	chr12:104531363..104532174-chr20:25228138..25229130,2	NB4	blood:
19	chr12:104548821..104551037-chr12:104563209..104566369,3	K562	blood:
20	chr12:104358049..104359986-chr12:104530882..104532737,3	K562	blood:
21	chr12:104528672..104531458-chr12:104545242..104548166,3	K562	blood:
22	chr12:104531384..104532055-chr2:26568058..26568772,2	Hela-S3	cervix:
23	chr12:104531173..104532708-chr12:104546943..104548666,2	MCF-7	breast:
24	chr12:104530782..104534411-chr12:104679881..104682289,3	K562	blood:
25	chr12:104322684..104325586-chr12:104530441..104532019,2	K562	blood:
26	chr12:104528832..104532197-chr12:105351511..105353407,3	MCF-7	breast:
27	chr12:104348297..104351124-chr12:104530392..104533056,3	MCF-7	breast:
28	chr12:104530514..104533012-chr12:104679009..104681675,2	K562	blood:
29	chr12:104530672..104533179-chr6:154830934..154833113,2	MCF-7	breast:
30	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
31	chr12:104531573..104532274-chr3:49058505..49059412,2	Hela-S3	cervix:
32	chr12:104542011..104544016-chr12:104556575..104558622,2	MCF-7	breast:
33	chr12:104528672..104531458-chr12:104545242..104548166,2	K562	blood:
34	chr12:72079541..72080318-chr12:104531306..104531990,2	NB4	blood:
35	chr12:104530916..104533176-chr12:104540165..104542928,2	MCF-7	breast:
36	chr12:104529986..104533486-chr12:104678703..104682517,5	MCF-7	breast:
37	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
38	chr12:48172969..48173580-chr12:104550737..104551237,2	K562	blood:
39	chr12:104545972..104549947-chr12:104555023..104560302,4	K562	blood:
40	chr12:104529255..104533674-chr12:104537632..104543794,8	K562	blood:
41	chr12:104534094..104536721-chr12:104557947..104560428,2	MCF-7	breast:
42	chr12:104531343..104532062-chr14:24036745..24037302,2	HCT-116	colon:
43	chr12:104529689..104531446-chr12:104719514..104721289,2	K562	blood:
44	chr12:104532395..104534218-chr12:104535636..104537137,2	K562	blood:
45	chr12:104490343..104492832-chr12:104530682..104533569,2	MCF-7	breast:
46	chr12:104534094..104536721-chr12:104557947..104560428,2	MCF-7	breast:
47	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
48	chr12:104455182..104458865-chr12:104529769..104532559,3	MCF-7	breast:
49	chr12:104530438..104533662-chr12:104564030..104567253,5	K562	blood:
50	chr12:104530418..104534318-chr12:104539264..104543504,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLT8D2-1	chr12:104531919-104532040	NONHSAT030410

No data

Variant related genes	Relation type
NFYB	TF binding region
NFYB	CpG island
ENSG00000111727	chromatin interactions
ENSG00000198431	chromatin interactions
ENSG00000166598	chromatin interactions
ENSG00000199415	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000120837	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000136052	chromatin interactions
ENSG00000204954	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000139372	chromatin interactions
ENSG00000214198	chromatin interactions
ENSG00000265072	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000173567	chromatin interactions
ENSG00000198887	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000100994	chromatin interactions
ENSG00000257193	chromatin interactions
ENSG00000120820	chromatin interactions
ENSG00000168310	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000268364	chromatin interactions
ENSG00000153721	chromatin interactions
ENSG00000213983	chromatin interactions
ENSG00000139291	chromatin interactions
ENSG00000257999	chromatin interactions
ENSG00000271646	chromatin interactions

Extended variants
information (count: 965 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56074043	chr12:104531180-104531181	Active TSS Flanking Active TSS	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533125222	chr12:104531214-104531215	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs113610184	chr12:104531233-104531234	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs543746789	chr12:104531282-104531283	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs563536349	chr12:104531284-104531285	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs529119428	chr12:104531288-104531289	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs549174861	chr12:104531314-104531315	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs565669947	chr12:104531328-104531329	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs528177746	chr12:104531409-104531410	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs551134855	chr12:104531447-104531448	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
11	rs571224022	chr12:104531490-104531491	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
12	rs536608624	chr12:104531607-104531608	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
13	rs557246408	chr12:104531610-104531611	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
14	rs567590627	chr12:104531686-104531687	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
15	rs375472843	chr12:104531775-104531776	Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
16	rs553517345	chr12:104531818-104531819	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs376667886	chr12:104531958-104531959	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
18	rs548682471	chr12:104532131-104532132	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs12298853	chr12:104532159-104532160	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs573298273	chr12:104532202-104532203	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
21	rs545481281	chr12:104532232-104532233	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs12298920	chr12:104532288-104532289	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
23	rs376992384	chr12:104532311-104532312	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs529670523	chr12:104532350-104532351	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs115551928	chr12:104532415-104532416	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs372722475	chr12:104532419-104532420	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs375708144	chr12:104532500-104532501	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs544585368	chr12:104532506-104532507	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs150056878	chr12:104532565-104532566	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs3812800	chr12:104532641-104532642	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs542880426	chr12:104532677-104532678	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs528767927	chr12:104532694-104532695	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs542218257	chr12:104532697-104532698	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs561204708	chr12:104532711-104532712	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs531874736	chr12:104532748-104532749	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs6539124	chr12:104532782-104532783	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs528226301	chr12:104532838-104532839	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs551465298	chr12:104532850-104532851	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs547301926	chr12:104532861-104532862	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs73392514	chr12:104532922-104532923	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530445935	chr12:104532926-104532927	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs571424067	chr12:104532930-104532931	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs571746632	chr12:104532931-104532932	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs367972716	chr12:104532962-104532963	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs372503367	chr12:104532973-104532974	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs370778113	chr12:104532986-104532987	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs145421266	chr12:104532993-104532994	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs140794598	chr12:104533002-104533003	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs144626054	chr12:104533070-104533071	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs377548426	chr12:104533097-104533098	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104529200-104532400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:104529600-104532400	Active TSS	NHLF	lung
3	chr12:104529800-104532200	Active TSS	Right Atrium	heart
4	chr12:104530000-104531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:104530000-104531200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:104530000-104532200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:104530000-104532400	Active TSS	NHDF-Ad	bronchial
8	chr12:104530000-104532800	Active TSS	Aorta	Aorta
9	chr12:104530200-104531200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr12:104530200-104531200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr12:104530200-104531400	Active TSS	GM12878-XiMat	blood
12	chr12:104530200-104532200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:104530200-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:104530200-104532200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:104530200-104532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:104530200-104532400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:104530200-104532400	Active TSS	HSMMtube	muscle
18	chr12:104530200-104532800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:104530200-104533200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:104530400-104531200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr12:104530400-104531200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:104530400-104531200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr12:104530400-104531200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:104530400-104531200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:104530400-104531200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:104530400-104531200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:104530400-104531200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:104530400-104532200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:104530400-104532200	Active TSS	Fetal Muscle Trunk	muscle
30	chr12:104530400-104532200	Active TSS	Right Ventricle	heart
31	chr12:104530400-104532400	Active TSS	Left Ventricle	heart
32	chr12:104530400-104532600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:104530400-104532800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr12:104530400-104533000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:104530600-104531200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:104530600-104531200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:104530600-104531200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:104530600-104531200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:104530600-104531200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:104530600-104531200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr12:104530600-104531200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:104530600-104531200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:104530600-104531200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr12:104530600-104531200	Flanking Active TSS	Liver	Liver
45	chr12:104530600-104531200	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr12:104530600-104531200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr12:104530600-104531200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:104530600-104531400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:104530600-104531800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:104530600-104532200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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