Variant report

Variant	rs2631779
Chromosome Location	chr1:76589997-76589998
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	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11162082	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583963	0.95[EUR][1000 genomes]
rs11584597	0.97[EUR][1000 genomes]
rs11586933	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587725	0.95[EUR][1000 genomes]
rs11590555	0.98[EUR][1000 genomes]
rs12091356	0.82[EUR][1000 genomes]
rs12407026	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407031	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407845	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12408918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs158620	1.00[JPT][hapmap]
rs1684948	0.85[EUR][1000 genomes]
rs17098119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609927	0.98[EUR][1000 genomes]
rs17610084	0.98[EUR][1000 genomes]
rs17610851	0.85[EUR][1000 genomes]
rs17662194	0.85[EUR][1000 genomes]
rs190861	1.00[JPT][hapmap]
rs2783661	0.95[ASN][1000 genomes]
rs289677	1.00[JPT][hapmap]
rs289678	1.00[JPT][hapmap]
rs289687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs289693	1.00[JPT][hapmap]
rs36050099	0.88[EUR][1000 genomes]
rs409245	1.00[JPT][hapmap]
rs491409	1.00[JPT][hapmap]
rs552890	1.00[JPT][hapmap]
rs57217665	0.95[ASN][1000 genomes]
rs588073	1.00[JPT][hapmap]
rs61771334	0.88[EUR][1000 genomes]
rs61771335	0.82[EUR][1000 genomes]
rs6657466	0.95[ASN][1000 genomes]
rs6657828	0.95[ASN][1000 genomes]
rs6664446	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691344	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv522056	chr1:76573614-76598209	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1488	chr1:76587622-76632635	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:76576400-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:76577000-76590800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:76579400-76590800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:76579800-76590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76581800-76596200	Weak transcription	Fetal Intestine Large	intestine
9	chr1:76583400-76590200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:76586400-76590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:76587000-76590200	Enhancers	Lung	lung
12	chr1:76587200-76590800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:76587800-76590200	Weak transcription	Fetal Kidney	kidney
14	chr1:76587800-76591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:76587800-76592400	Weak transcription	Gastric	stomach
16	chr1:76587800-76593400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:76587800-76602800	Weak transcription	Right Atrium	heart
18	chr1:76588200-76615600	Weak transcription	Left Ventricle	heart
19	chr1:76588400-76591000	Weak transcription	Fetal Lung	lung
20	chr1:76588400-76594200	Weak transcription	Right Ventricle	heart
21	chr1:76588600-76594200	Weak transcription	Aorta	Aorta
22	chr1:76589000-76590000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:76589200-76590000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:76589800-76590000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr1:76589800-76590000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:76589800-76590200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:76589800-76590400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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