Variant report

Variant	rs9321241
Chromosome Location	chr6:130897551-130897552
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	EBF1	chr6:130897148-130897556	GM12878	blood:	n/a	n/a
2	CUX1	chr6:130897022-130897725	GM12878	blood:	n/a	n/a
3	BCLAF1	chr6:130897084-130897598	GM12878	blood:	n/a	n/a
4	EBF1	chr6:130896900-130897779	GM12878	blood:	n/a	chr6:130897603-130897616 chr6:130897605-130897614
5	RUNX3	chr6:130896794-130897591	GM12878	blood:	n/a	n/a
6	CHD2	chr6:130896888-130897590	GM12878	blood:	n/a	n/a
7	TBP	chr6:130896901-130897584	GM12878	blood:	n/a	n/a
8	EP300	chr6:130896887-130897606	GM12878	blood:	n/a	chr6:130897402-130897416
9	STAT1	chr6:130897178-130897574	GM12878	blood:	n/a	n/a
10	RUNX3	chr6:130896943-130897559	GM12878	blood:	n/a	n/a
11	EP300	chr6:130896982-130897611	GM12878	blood:	n/a	chr6:130897402-130897416
12	MTA3	chr6:130896976-130897656	GM12878	blood:	n/a	n/a
13	POU2F2	chr6:130897004-130897564	GM12878	blood:	n/a	n/a
14	NFIC	chr6:130896956-130897604	GM12878	blood:	n/a	n/a
15	NFATC1	chr6:130897081-130897589	GM12878	blood:	n/a	n/a
16	RELA	chr6:130896872-130897559	GM19099	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000202438	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10872372	0.85[EUR][1000 genomes]
rs1203340	0.83[EUR][1000 genomes]
rs1203341	0.83[EUR][1000 genomes]
rs1203342	0.80[EUR][1000 genomes]
rs1203343	0.82[EUR][1000 genomes]
rs1203344	0.85[EUR][1000 genomes]
rs1203345	0.85[EUR][1000 genomes]
rs1203346	0.85[EUR][1000 genomes]
rs1203347	0.85[EUR][1000 genomes]
rs1203348	0.85[EUR][1000 genomes]
rs12526873	0.84[EUR][1000 genomes]
rs12665689	0.81[ASN][1000 genomes]
rs1316493	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316537	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1316538	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1317232	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1933757	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1933759	0.85[EUR][1000 genomes]
rs2326913	0.92[ASN][1000 genomes]
rs2876084	0.85[EUR][1000 genomes]
rs4144216	0.85[EUR][1000 genomes]
rs4895886	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4895887	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897437	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897438	0.95[ASN][1000 genomes]
rs56019502	0.94[ASN][1000 genomes]
rs62431565	0.94[ASN][1000 genomes]
rs62431566	0.93[ASN][1000 genomes]
rs6569688	0.85[EUR][1000 genomes]
rs6569690	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899678	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932172	0.88[EUR][1000 genomes]
rs6932344	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6932512	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6940599	0.85[EUR][1000 genomes]
rs71543277	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7451336	0.94[ASN][1000 genomes]
rs7452034	0.91[ASN][1000 genomes]
rs766966	0.85[EUR][1000 genomes]
rs766967	0.85[EUR][1000 genomes]
rs7744825	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7754423	0.93[ASN][1000 genomes]
rs7768049	0.85[EUR][1000 genomes]
rs9321234	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9321236	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9321238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372966	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372967	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372968	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375740	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375741	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375742	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9385548	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9388806	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9388808	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9402246	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9402247	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402248	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483145	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9492649	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv427767	chr6:130875056-131008620	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5475	chr6:130880169-130924850	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130894200-130899000	Enhancers	Fetal Thymus	thymus
2	chr6:130895200-130900000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:130895400-130898000	Enhancers	Thymus	Thymus
4	chr6:130895800-130899400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:130896000-130898000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:130896000-130899400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:130896000-130899800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:130896400-130898800	Enhancers	Primary hematopoietic stem cells	blood
9	chr6:130896400-130899000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:130896400-130899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:130896600-130898400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:130896600-130899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:130896800-130897600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:130896800-130897800	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:130896800-130897800	Enhancers	Liver	Liver
16	chr6:130896800-130897800	Enhancers	HepG2	liver
17	chr6:130897000-130897600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:130897000-130897800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:130897200-130897600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr6:130897200-130897800	Flanking Active TSS	GM12878-XiMat	blood
21	chr6:130897200-130899000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr6:130897400-130897600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:130897400-130897600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr6:130897400-130897800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr6:130897400-130898000	Flanking Active TSS	Dnd41	blood

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