Variant report

Variant	rs811622
Chromosome Location	chr7:83880811-83880812
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	chr7:83875965..83878542-chr7:83880011..83883471,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10081337	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085599	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1015629	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10231889	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10233152	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10260152	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263842	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971807	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979170	0.94[JPT][hapmap]
rs12539919	0.89[JPT][hapmap]
rs1808204	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989963	0.86[ASN][1000 genomes]
rs2018407	0.86[ASN][1000 genomes]
rs2214503	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2372167	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2372168	0.82[ASN][1000 genomes]
rs4607535	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471477	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs488333	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs489440	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs501229	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs512896	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs514083	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521401	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs537358	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562475	0.86[ASN][1000 genomes]
rs569493	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs584566	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs589077	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs592778	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs600346	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614046	0.86[ASN][1000 genomes]
rs645226	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs671711	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6946162	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964607	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969121	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs726978	0.86[ASN][1000 genomes]
rs727784	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7780987	0.81[ASN][1000 genomes]
rs7787024	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794860	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7799452	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800995	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs812780	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs929275	0.80[EUR][1000 genomes]
rs9642175	0.89[JPT][hapmap]
rs996033	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv5818	chr7:83874968-83919804	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83875800-83893800	Weak transcription	NHDF-Ad	bronchial
2	chr7:83876800-83881000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:83878400-83884600	Weak transcription	Fetal Lung	lung
4	chr7:83878600-83885400	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:83879200-83881800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:83879200-83882000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:83879600-83881200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:83879600-83881200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:83879600-83881400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:83879600-83881600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:83879600-83881800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83879800-83881000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:83879800-83881200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:83879800-83881600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:83879800-83881600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:83879800-83881600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:83880200-83881800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr7:83880200-83882000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:83880200-83886000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:83880200-83892200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:83880400-83881000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:83880400-83881200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:83880400-83881200	Enhancers	HMEC	breast
24	chr7:83880400-83881600	Enhancers	Osteobl	bone
25	chr7:83880600-83881000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:83880600-83881000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:83880600-83881200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:83880600-83881200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:83880600-83881200	Flanking Active TSS	NH-A	brain
30	chr7:83880600-83881400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83880600-83881400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:83880600-83881400	Enhancers	NHLF	lung
33	chr7:83880600-83881600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:83880600-83881600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:83880600-83881600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:83880800-83881000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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