Variant report

Variant	rs7298443
Chromosome Location	chr12:31961541-31961542
allele	C/T
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	chr12:31959528-31962502	GM12891	blood:	n/a	n/a
2	POLR2A	chr12:31959919-31962542	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:31961330-31961634	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:31959942-31962582	GM19099	blood:	n/a	n/a
5	JUND	chr12:31961419-31961657	HepG2	liver:	n/a	chr12:31961535-31961546
6	POLR2A	chr12:31961417-31961545	GM12878	blood:	n/a	n/a
7	RUNX3	chr12:31961424-31961650	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000252204	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10466820	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10466821	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10466822	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844014	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10844024	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11051600	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051607	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051608	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051616	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11502789	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11833816	0.87[EUR][1000 genomes]
rs12299405	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17508967	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2128611	0.85[CHB][hapmap]
rs28441213	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28584607	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34391246	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3933837	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3933838	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4995576	0.85[CHB][hapmap]
rs55787412	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57758733	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60569575	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61286985	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv522362	chr12:31929771-31981293	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv558138	chr12:31929771-31981293	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv975626	chr12:31937678-31972436	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
15	nsv663	chr12:31941989-31986608	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31954600-31962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:31957400-31966000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:31959400-31961600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:31959600-31962200	Enhancers	Fetal Thymus	thymus
5	chr12:31960200-31962400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:31960200-31962600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:31960600-31962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:31960600-31965800	Weak transcription	Fetal Intestine Large	intestine
9	chr12:31960600-31978000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:31960800-31964200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:31960800-31965800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:31961000-31962000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:31961000-31964000	Weak transcription	K562	blood
14	chr12:31961000-31966200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:31961000-31966200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:31961000-31968000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:31961000-31972600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:31961200-31961600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr12:31961200-31966000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:31961200-31966200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:31961400-31962000	Weak transcription	GM12878-XiMat	blood
22	chr12:31961400-31964200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:31961400-31966000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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