Variant report

Variant	rs7966902
Chromosome Location	chr12:44200485-44200486
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:44199718-44200681	HUVEC	blood vessel:	n/a	n/a
2	TAF1	chr12:44199506-44200591	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:44199307-44200553	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr12:44199352-44200525	HepG2	liver:	n/a	n/a
5	ETS1	chr12:44199817-44200574	GM12878	blood:	n/a	chr12:44200427-44200443 chr12:44200431-44200438 chr12:44199912-44199922 chr12:44200206-44200217 chr12:44200431-44200440
6	REST	chr12:44199994-44200594	HL-60	blood:	n/a	chr12:44200248-44200258 chr12:44200009-44200019
7	ZKSCAN1	chr12:44199533-44200492	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr12:44199606-44200613	SK-N-SH	brain:	n/a	n/a
9	NRF1	chr12:44200113-44200574	GM12878	blood:	n/a	n/a
10	RCOR1	chr12:44199421-44200915	Hela-S3	cervix:	n/a	n/a
11	ELK4	chr12:44199734-44200753	Hela-S3	cervix:	n/a	chr12:44200430-44200441
12	SPI1	chr12:44199880-44200875	GM12878	blood:	n/a	chr12:44200427-44200440
13	POLR2A	chr12:44199117-44200665	H1-hESC	embryonic stem cell:	n/a	n/a
14	PML	chr12:44199945-44200494	MCF-7	breast:	n/a	n/a
15	MAX	chr12:44199148-44200627	NB4	blood:	n/a	chr12:44200251-44200261
16	POLR2A	chr12:44199517-44200534	K562	blood:	n/a	n/a
17	POLR2A	chr12:44199613-44200895	GM18951	blood:	n/a	n/a
18	POLR2A	chr12:44199532-44200574	Hela-S3	cervix:	n/a	n/a
19	IRF1	chr12:44199325-44200654	K562	blood:	n/a	n/a
20	IRF1	chr12:44198674-44200707	K562	blood:	n/a	chr12:44198962-44198979 chr12:44198965-44198979
21	YY1	chr12:44199543-44200640	SK-N-SH	brain:	n/a	chr12:44200214-44200223 chr12:44200206-44200215 chr12:44200206-44200217 chr12:44200042-44200054
22	POLR2A	chr12:44199474-44200651	HL-60	blood:	n/a	n/a
23	HEY1	chr12:44199670-44200513	HepG2	liver:	n/a	chr12:44199892-44199907
24	SPI1	chr12:44200310-44200560	GM12878	blood:	n/a	chr12:44200427-44200440
25	SIN3A	chr12:44199410-44200714	GM12878	blood:	n/a	chr12:44199855-44199864 chr12:44200211-44200222 chr12:44200010-44200019
26	POLR2A	chr12:44199670-44200827	NB4	blood:	n/a	n/a
27	ELK1	chr12:44200010-44200807	GM12878	blood:	n/a	n/a
28	RFX5	chr12:44199970-44200581	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:44199620-44200572	K562	blood:	n/a	n/a
30	MAFF	chr12:44200179-44200614	HepG2	liver:	n/a	chr12:44200403-44200417 chr12:44200404-44200422
31	ELF1	chr12:44199660-44200537	K562	blood:	n/a	chr12:44199850-44199859 chr12:44200429-44200440
32	ETS1	chr12:44199750-44200530	GM12878	blood:	n/a	chr12:44200427-44200443 chr12:44200431-44200438 chr12:44199912-44199922 chr12:44200206-44200217 chr12:44200431-44200440
33	TAF1	chr12:44199515-44200569	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr12:44199793-44200522	GM10847	blood:	n/a	n/a
35	TAF1	chr12:44200133-44200543	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr12:44199417-44201106	U87	brain:	n/a	n/a
37	REST	chr12:44199350-44200865	H1-neurons	neurons:	n/a	chr12:44199871-44199884 chr12:44199855-44199865 chr12:44199819-44199832 chr12:44200248-44200258 chr12:44200009-44200019
38	POLR2A	chr12:44199619-44200589	GM12892	blood:	n/a	n/a
39	TBL1XR1	chr12:44199913-44200736	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:44199634-44200535	A549	lung:	n/a	n/a
41	BRCA1	chr12:44199239-44200607	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr12:44199502-44200603	HepG2	liver:	n/a	n/a
43	TAF1	chr12:44199911-44200545	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:44199589-44200516	HepG2	liver:	n/a	n/a
45	GABPA	chr12:44199472-44200890	A549	lung:	n/a	n/a
46	TBP	chr12:44199180-44200887	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr12:44199496-44200971	K562	blood:	n/a	n/a
48	EP300	chr12:44199902-44200955	K562	blood:	n/a	chr12:44199915-44199922
49	RAD21	chr12:44199495-44200540	IMR90	lung:	n/a	n/a
50	POLR2A	chr12:44199148-44200746	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:43904994..43906752-chr12:44200364..44202300,2	K562	blood:
2	chr12:44199917..44200514-chr6:74230104..74230869,2	Hela-S3	cervix:
3	chr12:44151259..44154357-chr12:44196994..44203443,7	K562	blood:
4	chr12:44199977..44200674-chr2:74425407..74426047,2	Hela-S3	cervix:
5	chr12:44199788..44200535-chr6:146055682..146056650,2	Hela-S3	cervix:
6	chr12:21810491..21811172-chr12:44200036..44200537,2	NB4	blood:
7	chr12:44199711..44200638-chr15:45694089..45695040,2	NB4	blood:
8	chr12:44199519..44200501-chr2:114513660..114514189,2	Hela-S3	cervix:
9	chr12:44131089..44132786-chr12:44198485..44200519,2	K562	blood:
10	chr1:147806453..147807195-chr12:44199762..44200590,2	Hela-S3	cervix:
11	chr12:44189560..44194683-chr12:44198050..44201661,11	MCF-7	breast:
12	chr12:44199518..44200489-chr20:47662860..47663898,3	Hela-S3	cervix:
13	chr12:44198221..44201924-chr12:44226822..44231143,11	MCF-7	breast:
14	chr12:44199643..44200641-chr15:60689153..60689685,2	Hela-S3	cervix:
15	chr12:44151164..44154828-chr12:44196994..44201951,5	K562	blood:
16	chr12:44197117..44201952-chr12:44227919..44231382,13	MCF-7	breast:
17	chr12:44200145..44201103-chr7:32930197..32930767,2	Hela-S3	cervix:
18	chr11:61100428..61101163-chr12:44200127..44200671,2	Hela-S3	cervix:

Variant related genes	Relation type
TWF1	TF binding region
ENSG00000115084	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000124207	Chromatin interaction
ENSG00000139173	Chromatin interaction
ENSG00000202408	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000129317	Chromatin interaction
ENSG00000257896	Chromatin interaction
ENSG00000112425	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000198001	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000167986	Chromatin interaction
ENSG00000149476	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000111716	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506231	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10880569	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880571	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11182268	0.89[ASN][1000 genomes]
rs11182269	0.89[ASN][1000 genomes]
rs11182270	0.89[ASN][1000 genomes]
rs11182273	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11182275	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11182279	0.89[ASN][1000 genomes]
rs11182280	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11182281	0.95[ASN][1000 genomes]
rs11182282	0.90[ASN][1000 genomes]
rs11182284	0.90[ASN][1000 genomes]
rs11182286	0.82[ASN][1000 genomes]
rs11182287	0.84[ASN][1000 genomes]
rs11182288	0.90[ASN][1000 genomes]
rs11182289	0.84[ASN][1000 genomes]
rs11182290	0.83[AFR][1000 genomes]
rs11556066	0.89[ASN][1000 genomes]
rs11608602	0.90[ASN][1000 genomes]
rs12226960	0.95[ASN][1000 genomes]
rs12228995	0.81[ASN][1000 genomes]
rs12230695	0.90[ASN][1000 genomes]
rs12231553	0.89[ASN][1000 genomes]
rs12829856	0.89[ASN][1000 genomes]
rs1816854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28437935	0.85[ASN][1000 genomes]
rs35980560	0.89[ASN][1000 genomes]
rs3764004	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4251562	0.84[ASN][1000 genomes]
rs73093785	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44198000-44200800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:44198200-44200800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44198200-44200800	Active TSS	HMEC	breast
4	chr12:44198200-44201000	Active TSS	A549	lung
5	chr12:44198200-44201200	Active TSS	K562	blood
6	chr12:44198200-44201600	Active TSS	GM12878-XiMat	blood
7	chr12:44198600-44200800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:44198600-44200800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:44198600-44200800	Active TSS	Fetal Brain Male	brain
10	chr12:44198600-44201000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:44198600-44201000	Active TSS	Brain Germinal Matrix	brain
12	chr12:44198600-44201000	Active TSS	NHLF	lung
13	chr12:44198600-44201400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr12:44198600-44201400	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:44198600-44201600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:44198800-44200600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:44198800-44200600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:44198800-44200600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:44198800-44200600	Active TSS	Fetal Intestine Small	intestine
20	chr12:44198800-44200600	Active TSS	Fetal Thymus	thymus
21	chr12:44198800-44200600	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr12:44198800-44200600	Active TSS	Hela-S3	cervix
23	chr12:44198800-44200800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:44198800-44200800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:44198800-44200800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:44198800-44200800	Active TSS	Fetal Stomach	stomach
27	chr12:44198800-44200800	Active TSS	HSMM	muscle
28	chr12:44198800-44200800	Active TSS	NHDF-Ad	bronchial
29	chr12:44198800-44201000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr12:44198800-44201000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr12:44198800-44201000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:44198800-44201000	Active TSS	HSMMtube	muscle
33	chr12:44198800-44201200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:44199000-44200600	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:44199000-44200600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:44199000-44200600	Active TSS	Colonic Mucosa	Colon
37	chr12:44199000-44200600	Active TSS	Esophagus	oesophagus
38	chr12:44199000-44200600	Active TSS	Fetal Intestine Large	intestine
39	chr12:44199000-44200600	Active TSS	Ovary	ovary
40	chr12:44199000-44200600	Active TSS	Stomach Mucosa	stomach
41	chr12:44199000-44200600	Active TSS	NHEK	skin
42	chr12:44199000-44200600	Active TSS	Osteobl	bone
43	chr12:44199000-44200800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:44199000-44200800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:44199000-44200800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr12:44199000-44200800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:44199000-44200800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:44199000-44200800	Active TSS	Aorta	Aorta
49	chr12:44199000-44200800	Active TSS	Brain Substantia Nigra	brain
50	chr12:44199000-44200800	Active TSS	Colon Smooth Muscle	Colon

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