Variant report

Variant	rs10844014
Chromosome Location	chr12:31957381-31957382
allele	A/G
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	NFIC	chr12:31956780-31957477	GM12878	blood:	n/a	n/a
2	NFIC	chr12:31956946-31957464	GM12878	blood:	n/a	n/a
3	EBF1	chr12:31956960-31957507	GM12878	blood:	n/a	n/a
4	RUNX3	chr12:31957018-31957436	GM12878	blood:	n/a	n/a
5	TBP	chr12:31957050-31957402	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr12:31956965-31957406	GM12878	blood:	n/a	n/a
7	BATF	chr12:31957043-31957422	GM12878	blood:	n/a	n/a
8	RUNX3	chr12:31956948-31957467	GM12878	blood:	n/a	n/a
9	FOXM1	chr12:31956976-31957479	GM12878	blood:	n/a	n/a
10	CUX1	chr12:31957071-31957481	GM12878	blood:	n/a	n/a
11	IKZF1	chr12:31956850-31957422	GM12878	blood:	n/a	n/a
12	CHD2	chr12:31957046-31957443	GM12878	blood:	n/a	n/a
13	USF2	chr12:31957050-31957413	GM12878	blood:	n/a	n/a
14	ZNF143	chr12:31957157-31957388	GM12878	blood:	n/a	n/a
15	RCOR1	chr12:31956904-31957488	GM12878	blood:	n/a	n/a
16	IRF4	chr12:31956983-31957423	GM12878	blood:	n/a	n/a
17	BATF	chr12:31957019-31957431	GM12878	blood:	n/a	n/a
18	MXI1	chr12:31957033-31957462	GM12878	blood:	n/a	n/a
19	IRF4	chr12:31956970-31957441	GM12878	blood:	n/a	n/a
20	EP300	chr12:31957017-31957488	GM12878	blood:	n/a	n/a
21	EP300	chr12:31956795-31957422	GM12878	blood:	n/a	n/a
22	SMC3	chr12:31956968-31957569	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:31956744-31957433	GM12878	blood:	n/a	n/a
24	ATF2	chr12:31956928-31957459	GM12878	blood:	n/a	n/a
25	MAX	chr12:31957336-31957491	GM12878	blood:	n/a	n/a
26	BHLHE40	chr12:31957050-31957414	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1069P	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10466820	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10466821	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10466822	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10844024	0.93[EUR][1000 genomes]
rs11051600	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051607	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051608	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051616	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11502789	0.91[EUR][1000 genomes]
rs11833816	0.83[EUR][1000 genomes]
rs12299405	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17508967	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs28441213	0.91[EUR][1000 genomes]
rs28584607	0.93[EUR][1000 genomes]
rs34391246	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3928323	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3933837	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3933838	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55787412	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57758733	0.93[EUR][1000 genomes]
rs60569575	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61286985	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298443	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]

Variant overlapped rSNPs/rCNVs (count:17 , 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
16	nsv519112	chr12:31944985-31957381	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
17	esv2762970	chr12:31950446-31960715	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31954600-31957800	Enhancers	Fetal Thymus	thymus
2	chr12:31954600-31962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:31956400-31957800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:31956600-31957400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:31956600-31957400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:31956600-31958000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr12:31956800-31957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:31956800-31957400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:31956800-31957400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:31956800-31957600	Active TSS	Primary T cells fromperipheralblood	blood
11	chr12:31956800-31957600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:31956800-31957600	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr12:31956800-31957600	Flanking Active TSS	GM12878-XiMat	blood
14	chr12:31956800-31957800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:31956800-31957800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr12:31956800-31957800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:31956800-31957800	Enhancers	Dnd41	blood
18	chr12:31957000-31957400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:31957000-31957400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:31957000-31958000	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:31957200-31957400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:31957200-31957400	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr12:31957200-31957400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:31957200-31957600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:31957200-31957600	Active TSS	Thymus	Thymus
26	chr12:31957200-31957800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr12:31957200-31957800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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