Variant report

Variant	rs62306505
Chromosome Location	chr4:87936842-87936843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87854648..87860283-chr4:87935219..87941983,10	K562	blood:
2	chr4:87901956..87904801-chr4:87936057..87937824,2	K562	blood:
3	chr4:87854102..87856628-chr4:87934651..87937317,2	MCF-7	breast:
4	chr4:87934960..87936958-chr4:87949259..87951055,2	MCF-7	breast:
5	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489044	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10516787	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13109968	1.00[AFR][1000 genomes]
rs13110344	1.00[AFR][1000 genomes]
rs13136338	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13136465	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13140610	0.83[AFR][1000 genomes]
rs17702203	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs33983129	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34140562	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34227282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709431	1.00[AFR][1000 genomes]
rs34745873	1.00[AFR][1000 genomes]
rs35182728	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35245331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35653846	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35812445	1.00[AFR][1000 genomes]
rs35849753	0.83[AFR][1000 genomes]
rs35886751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs431836	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62305658	1.00[AFR][1000 genomes]
rs62306466	1.00[AFR][1000 genomes]
rs62306480	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62306508	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306509	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62306510	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306511	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62306514	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6853425	0.83[AFR][1000 genomes]
rs767314	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87929200-87939400	Weak transcription	Gastric	stomach
2	chr4:87929400-87946200	Weak transcription	Esophagus	oesophagus
3	chr4:87929600-87937000	Enhancers	Fetal Heart	heart
4	chr4:87929600-87938000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:87929600-87938800	Weak transcription	HSMMtube	muscle
6	chr4:87929800-87937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:87930600-87937000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:87930600-87940600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:87930600-87946800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:87930600-87950000	Weak transcription	Fetal Stomach	stomach
11	chr4:87930800-87940600	Weak transcription	Spleen	Spleen
12	chr4:87931000-87937200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:87931000-87940800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:87931000-87940800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:87931000-87946600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:87931200-87937200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:87931200-87940400	Enhancers	Primary B cells from cord blood	blood
18	chr4:87931200-87943400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:87931800-87942600	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:87932600-87937000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:87932600-87937000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:87932600-87938200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr4:87932600-87938800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:87933200-87937000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:87933200-87937000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:87933200-87937000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:87933200-87937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:87933200-87938800	Weak transcription	Brain Substantia Nigra	brain
29	chr4:87933200-87938800	Weak transcription	NH-A	brain
30	chr4:87933200-87941000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:87933400-87937000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:87933400-87937400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:87933800-87938800	Weak transcription	Brain Angular Gyrus	brain
34	chr4:87934200-87937400	Enhancers	HepG2	liver
35	chr4:87934200-87939200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:87934200-87939200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:87934400-87937000	Flanking Active TSS	A549	lung
38	chr4:87934400-87938000	Enhancers	Fetal Intestine Large	intestine
39	chr4:87934400-87940800	Enhancers	Fetal Intestine Small	intestine
40	chr4:87934600-87937400	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:87934600-87937400	Enhancers	Stomach Mucosa	stomach
42	chr4:87934600-87938000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr4:87934800-87937000	Enhancers	NHEK	skin
44	chr4:87934800-87937400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:87934800-87937600	Enhancers	Small Intestine	intestine
46	chr4:87934800-87938200	Flanking Active TSS	K562	blood
47	chr4:87935000-87937000	Enhancers	HMEC	breast
48	chr4:87935000-87937000	Enhancers	Osteobl	bone
49	chr4:87935000-87937200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:87935000-87937400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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