Variant report

Variant	rs73074046
Chromosome Location	chr12:31960649-31960650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr12:31960554-31960871	GM12878	blood:	n/a	n/a
2	USF1	chr12:31960619-31960827	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr12:31960027-31960886	GM12891	blood:	n/a	n/a
4	ATF3	chr12:31960500-31960895	GM12878	blood:	n/a	n/a
5	RCOR1	chr12:31960206-31960878	GM12878	blood:	n/a	n/a
6	ZNF143	chr12:31960496-31960920	GM12878	blood:	n/a	n/a
7	NFE2	chr12:31960589-31960852	GM12878	blood:	n/a	n/a
8	USF1	chr12:31960480-31960832	K562	blood:	n/a	n/a
9	EBF1	chr12:31959914-31960851	GM12878	blood:	n/a	n/a
10	USF1	chr12:31960526-31960975	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:31959528-31962502	GM12891	blood:	n/a	n/a
12	USF1	chr12:31960618-31960811	SK-N-SH_RA	brain:	n/a	n/a
13	USF1	chr12:31960579-31960872	A549	lung:	n/a	n/a
14	USF1	chr12:31960603-31960856	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:31960365-31960898	GM12891	blood:	n/a	n/a
16	IKZF1	chr12:31960439-31960985	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:31960490-31960801	GM12891	blood:	n/a	n/a
18	USF1	chr12:31960589-31960839	K562	blood:	n/a	n/a
19	EP300	chr12:31959909-31960964	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:31959919-31962542	GM12878	blood:	n/a	n/a
21	WRNIP1	chr12:31959936-31960833	GM12878	blood:	n/a	n/a
22	USF1	chr12:31960588-31960800	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:31960006-31960908	GM12892	blood:	n/a	n/a
24	EP300	chr12:31959906-31960890	GM12878	blood:	n/a	n/a
25	BHLHE40	chr12:31959897-31960934	GM12878	blood:	n/a	n/a
26	MXI1	chr12:31959887-31961043	GM12878	blood:	n/a	n/a
27	USF1	chr12:31960511-31960967	HCT-116	colon:	n/a	n/a
28	NFIC	chr12:31960097-31960980	GM12878	blood:	n/a	n/a
29	USF1	chr12:31960540-31960904	ECC-1	luminal epithelium:	n/a	n/a
30	RUNX3	chr12:31959862-31960937	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:31960581-31960818	GM12891	blood:	n/a	n/a
32	USF1	chr12:31960518-31960940	ECC-1	luminal epithelium:	n/a	n/a
33	SIN3A	chr12:31960486-31960747	GM12878	blood:	n/a	n/a
34	RUNX3	chr12:31960544-31960875	GM12878	blood:	n/a	n/a
35	NFATC1	chr12:31960229-31960683	GM12878	blood:	n/a	n/a
36	NFATC1	chr12:31960224-31960757	GM12878	blood:	n/a	n/a
37	EP300	chr12:31959949-31960881	GM12878	blood:	n/a	n/a
38	USF1	chr12:31960512-31960830	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF384	chr12:31960597-31960961	GM12878	blood:	n/a	n/a
40	TBP	chr12:31959933-31960955	GM12878	blood:	n/a	n/a
41	POLR2A	chr12:31959942-31962582	GM19099	blood:	n/a	n/a
42	RELA	chr12:31960007-31960882	GM10847	blood:	n/a	n/a
43	POLR2A	chr12:31960111-31961146	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:31960057-31960850	GM12878	blood:	n/a	n/a
45	USF2	chr12:31960531-31960989	GM12878	blood:	n/a	n/a
46	CUX1	chr12:31960623-31960949	GM12878	blood:	n/a	n/a
47	USF1	chr12:31960577-31960861	A549	lung:	n/a	n/a
48	MAX	chr12:31959969-31960922	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr12:31960461-31960971	GM12878	blood:	n/a	n/a
50	CHD2	chr12:31959862-31960902	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000252204	TF binding region
RNU6-1069P	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12811651	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12814855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12815174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12816956	0.81[EUR][1000 genomes]
rs12817263	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12823413	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12823752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12825094	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12825723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826558	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17566497	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17568410	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2388970	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34044630	0.84[AMR][1000 genomes]
rs34065684	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34095810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34121037	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34184907	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34353104	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34353434	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34580801	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34777422	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34943554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35147828	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35169933	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35376742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35622927	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35774037	0.81[AMR][1000 genomes]
rs35869118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36058687	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36064527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36084850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36123158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4625567	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930990	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4930991	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4930993	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931556	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4931559	0.83[EUR][1000 genomes]
rs4931569	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4931573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4931574	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4931576	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55924094	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66550728	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67164469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67774974	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133506	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71455687	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303032	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73075914	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73075931	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73075968	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7967020	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976933	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7977460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7977871	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977983	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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:28 , 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	chr12:31959000-31960800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:31959200-31961200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:31959400-31961000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:31959400-31961000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr12:31959400-31961200	Enhancers	Primary T cells from cord blood	blood
8	chr12:31959400-31961400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:31959400-31961600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr12:31959600-31961000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:31959600-31961000	Enhancers	Fetal Intestine Small	intestine
12	chr12:31959600-31961200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:31959600-31961400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:31959600-31962200	Enhancers	Fetal Thymus	thymus
15	chr12:31959800-31960800	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:31959800-31961000	Enhancers	Thymus	Thymus
17	chr12:31960200-31962400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:31960200-31962600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr12:31960400-31960800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:31960400-31960800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:31960400-31960800	Enhancers	Dnd41	blood
22	chr12:31960600-31960800	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr12:31960600-31961000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:31960600-31961000	Enhancers	K562	blood
25	chr12:31960600-31961400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:31960600-31962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:31960600-31965800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:31960600-31978000	Weak transcription	Primary B cells from cord blood	blood

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