Variant report

Variant	rs6830053
Chromosome Location	chr4:143621892-143621893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143620976..143623846-chr4:143624142..143626240,2	MCF-7	breast:
2	chr4:143393648..143395984-chr4:143620297..143622044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1031104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857397	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10857399	0.91[CHB][hapmap]
rs11100754	0.81[JPT][hapmap]
rs1116690	0.89[ASN][1000 genomes]
rs11723809	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11943397	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11944455	0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12233703	0.86[ASN][1000 genomes]
rs12500698	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12508480	0.81[ASN][1000 genomes]
rs13102191	0.81[ASN][1000 genomes]
rs13109603	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13109664	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13114452	0.86[ASN][1000 genomes]
rs13119090	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13125853	0.84[ASN][1000 genomes]
rs13133181	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1364921	0.84[ASN][1000 genomes]
rs1364922	0.91[ASN][1000 genomes]
rs1364925	0.81[ASN][1000 genomes]
rs1373041	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1441417	0.91[CHB][hapmap]
rs1443187	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs1443188	0.87[ASN][1000 genomes]
rs1443191	0.86[ASN][1000 genomes]
rs17016768	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1899565	0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1961836	0.86[ASN][1000 genomes]
rs2017146	0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs2083781	0.83[ASN][1000 genomes]
rs2120158	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2165820	0.82[YRI][hapmap];0.86[ASN][1000 genomes]
rs2197216	0.85[ASN][1000 genomes]
rs2217017	0.81[ASN][1000 genomes]
rs2874870	0.81[ASN][1000 genomes]
rs2874871	0.81[ASN][1000 genomes]
rs331945	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4690698	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs6537123	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6537129	0.90[CHB][hapmap]
rs6830886	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6839158	1.00[CHB][hapmap]
rs6839894	0.89[CEU][hapmap];0.93[ASN][1000 genomes]
rs7434705	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7437824	0.81[ASN][1000 genomes]
rs7441478	0.93[ASN][1000 genomes]
rs7656375	0.80[CHB][hapmap]
rs7663475	0.80[CHB][hapmap]
rs7666140	0.90[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs7680076	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7680631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685086	0.87[ASN][1000 genomes]
rs7695514	0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7698691	0.90[ASN][1000 genomes]
rs978361	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs979194	0.81[CEU][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs979195	0.91[ASN][1000 genomes]
rs979196	0.91[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	nsv830101	chr4:143518810-143684392	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	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	chr4:143616000-143628800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr4:143616800-143629600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:143617000-143624200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr4:143617800-143626400	Weak transcription	Psoas Muscle	Psoas
5	chr4:143618000-143624800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:143618000-143625000	Weak transcription	Aorta	Aorta
7	chr4:143618000-143625200	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:143618600-143624800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:143619000-143622200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:143620200-143622200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr4:143620600-143622200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:143620800-143622000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:143620800-143622000	Weak transcription	Fetal Thymus	thymus
14	chr4:143620800-143642000	Weak transcription	Fetal Heart	heart
15	chr4:143621000-143622600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr4:143621000-143624200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:143621200-143622200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr4:143621200-143622200	Weak transcription	Thymus	Thymus
19	chr4:143621400-143622200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr4:143621400-143624800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:143621600-143623000	Flanking Active TSS	Dnd41	blood
22	chr4:143621800-143622200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:143621800-143624000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:143621800-143625000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr4:143621800-143626200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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