Variant report

Variant	rs4287239
Chromosome Location	chr1:211687051-211687052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211496336..211497406-chr1:211687015..211687898,3	MCF-7	breast:
2	chr1:210316536..210317443-chr1:211686960..211687594,2	K562	blood:
3	chr1:211556040..211557948-chr1:211686154..211688879,2	K562	blood:
4	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
5	chr1:211432929..211435006-chr1:211685831..211687394,2	K562	blood:
6	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
7	chr1:211433037..211435006-chr1:211684827..211687394,2	K562	blood:
8	chr1:211679953..211682698-chr1:211686016..211688389,2	K562	blood:
9	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
10	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1020335	0.92[JPT][hapmap]
rs10779561	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863901	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863902	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863903	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863904	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863906	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863911	0.86[YRI][hapmap]
rs10863912	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863913	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863914	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119756	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11576596	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12564861	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17017672	0.85[JPT][hapmap]
rs2358241	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279907	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4576708	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951758	0.82[CEU][hapmap]
rs4951761	0.92[JPT][hapmap]
rs6540685	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6693000	0.92[JPT][hapmap]
rs753646	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876649	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv19010	chr1:211686460-211687052	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211659200-211687600	Weak transcription	Spleen	Spleen
2	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:211682400-211687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:211684600-211688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:211684800-211688600	Enhancers	HMEC	breast
6	chr1:211685000-211687200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:211685400-211687800	Weak transcription	Thymus	Thymus
8	chr1:211685800-211687200	Weak transcription	NH-A	brain
9	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:211686200-211687800	Weak transcription	HUVEC	blood vessel
11	chr1:211686400-211687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:211686400-211688200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:211686600-211687600	Weak transcription	Gastric	stomach
14	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
15	chr1:211686800-211687600	Enhancers	A549	lung
16	chr1:211686800-211688400	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:211686800-211688400	Enhancers	Fetal Intestine Large	intestine
18	chr1:211686800-211689000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:211687000-211687200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:211687000-211687400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:211687000-211687400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:211687000-211687400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr1:211687000-211687600	Enhancers	Hela-S3	cervix
24	chr1:211687000-211687600	Enhancers	Osteobl	bone
25	chr1:211687000-211687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:211687000-211687800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:211687000-211687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:211687000-211688000	Enhancers	NHEK	skin
29	chr1:211687000-211688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:211687000-211688600	Enhancers	K562	blood

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