Variant report

Variant	rs2708856
Chromosome Location	chr7:48085016-48085017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:48076129..48077793-chr7:48082998..48085969,2	K562	blood:
2	chr7:48080536..48082874-chr7:48084498..48087203,2	MCF-7	breast:
3	chr7:48084214..48085770-chr7:48090694..48092571,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10233232	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879830	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879831	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2686782	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2686784	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686791	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686792	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686801	0.86[EUR][1000 genomes]
rs2708854	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708876	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2708887	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708899	0.89[EUR][1000 genomes]
rs2708912	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4724670	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6463458	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6979927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs870655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909059	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48080800-48091600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:48081200-48087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:48082000-48086000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:48082600-48086000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:48082800-48087400	Weak transcription	NHEK	skin
6	chr7:48082800-48087600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:48083000-48087600	Weak transcription	HMEC	breast
8	chr7:48083000-48088800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:48083000-48089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:48083000-48089600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:48083200-48085800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:48083200-48087600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:48084000-48087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:48084000-48087000	Enhancers	Fetal Thymus	thymus
15	chr7:48084200-48085200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:48084400-48086400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:48084400-48087000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:48084400-48087000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:48084400-48087000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:48084600-48085200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:48084600-48085200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:48084600-48085200	Enhancers	Esophagus	oesophagus
23	chr7:48084600-48085400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:48084600-48085400	Enhancers	Thymus	Thymus
25	chr7:48084600-48085800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:48084600-48086000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:48084600-48086200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:48084600-48086600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:48084600-48086800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr7:48084600-48086800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:48084600-48087000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:48085000-48087000	Enhancers	Primary T cells from cord blood	blood

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