Variant report

Variant	rs2217017
Chromosome Location	chr4:143505593-143505594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143504828..143506931-chr4:143519506..143521581,2	MCF-7	breast:
2	chr4:143470903..143473181-chr4:143503452..143506011,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1031104	0.81[ASN][1000 genomes]
rs10857397	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1116690	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11723809	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11943397	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11944455	0.86[ASN][1000 genomes]
rs12500698	0.81[ASN][1000 genomes]
rs13102191	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109603	0.87[ASN][1000 genomes]
rs13109664	0.87[ASN][1000 genomes]
rs13114452	0.94[ASN][1000 genomes]
rs13119090	0.87[ASN][1000 genomes]
rs13125362	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13125853	0.92[ASN][1000 genomes]
rs13133181	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1364921	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1364922	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1364923	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1364925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1373041	0.81[ASN][1000 genomes]
rs1443191	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473222	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1899565	0.88[ASN][1000 genomes]
rs2017146	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2083781	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2120158	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2165820	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2197216	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2874870	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975311	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6537123	0.86[ASN][1000 genomes]
rs6830053	0.81[ASN][1000 genomes]
rs6830886	0.81[ASN][1000 genomes]
rs6831966	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6839894	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7434705	0.87[ASN][1000 genomes]
rs7441478	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7680076	0.87[ASN][1000 genomes]
rs7680631	0.81[ASN][1000 genomes]
rs7695514	0.87[ASN][1000 genomes]
rs7698691	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs979194	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs979195	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs979196	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143489600-143505600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr4:143489800-143519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143490800-143519200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:143492400-143506200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:143493600-143510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143496200-143505600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:143501400-143506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:143501400-143506200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:143501400-143511000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:143501600-143505600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:143503800-143512400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:143503800-143514200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr4:143504000-143508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:143504000-143511400	Weak transcription	Primary T cells from cord blood	blood
15	chr4:143504400-143505600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143504400-143505600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:143504600-143508200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:143505400-143506200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:143505400-143508600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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