Variant report

Variant	rs4504586
Chromosome Location	chr7:50722460-50722461
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	chr7:50721573..50723142-chr7:50725744..50727999,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10261940	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238265	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12530592	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17133918	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17133922	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072235	0.83[ASN][1000 genomes]
rs2190495	1.00[CHB][hapmap]
rs2237442	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237448	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237452	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237455	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237459	0.82[AFR][1000 genomes]
rs2237460	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237462	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237465	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237467	0.98[ASN][1000 genomes]
rs2237468	0.86[ASN][1000 genomes]
rs2237471	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2237472	0.82[ASN][1000 genomes]
rs2237473	0.80[ASN][1000 genomes]
rs2237478	0.80[ASN][1000 genomes]
rs2237479	0.80[ASN][1000 genomes]
rs2244347	0.91[CHB][hapmap]
rs2282926	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282928	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282929	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807547	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819432	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901371	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55830086	0.80[ASN][1000 genomes]
rs58587127	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6593077	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792550	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792811	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7797159	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886822	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886137	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
2	chr7:50701000-50733600	Weak transcription	A549	lung
3	chr7:50701200-50728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:50701200-50733600	Weak transcription	K562	blood
6	chr7:50701400-50729000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:50705800-50724200	Weak transcription	NH-A	brain
8	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:50706800-50724600	Weak transcription	Fetal Lung	lung
10	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:50707800-50727600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:50708200-50729400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:50709200-50727400	Weak transcription	Fetal Intestine Small	intestine
14	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50710200-50729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:50713000-50725400	Weak transcription	Fetal Brain Female	brain
19	chr7:50714800-50724000	Weak transcription	NHLF	lung
20	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
21	chr7:50716200-50726000	Enhancers	Left Ventricle	heart
22	chr7:50716600-50727800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
24	chr7:50717200-50723800	Weak transcription	HUVEC	blood vessel
25	chr7:50717200-50724000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:50717200-50729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:50717800-50727200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:50718200-50723000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:50718200-50723600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:50718400-50727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:50718600-50723200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:50718600-50728000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:50718600-50729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:50719200-50724000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:50719400-50726200	Enhancers	Brain Angular Gyrus	brain
36	chr7:50719800-50729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:50720000-50726200	Enhancers	Brain Anterior Caudate	brain
38	chr7:50720000-50726200	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:50720000-50726400	Enhancers	Brain Substantia Nigra	brain
40	chr7:50720200-50722600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:50720400-50722800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:50720400-50723000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:50720400-50725400	Enhancers	Colon Smooth Muscle	Colon
44	chr7:50720600-50739400	Enhancers	Right Atrium	heart
45	chr7:50720800-50724800	Enhancers	Psoas Muscle	Psoas
46	chr7:50720800-50724800	Enhancers	Right Ventricle	heart
47	chr7:50721000-50722800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr7:50721000-50723400	Weak transcription	Colonic Mucosa	Colon
49	chr7:50721200-50722800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:50721200-50724200	Weak transcription	Stomach Mucosa	stomach

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