Variant report

Variant	rs10464288
Chromosome Location	chr7:16459826-16459827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16441426..16443801-chr7:16458658..16460792,2	K562	blood:
2	chr7:16302626..16306339-chr7:16456665..16460333,5	K562	blood:
3	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
4	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
5	chr7:16459816..16461703-chr7:16684865..16686576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17617508	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17674339	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1921840	0.84[ASN][1000 genomes]
rs1921843	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1921845	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2389632	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2389633	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389638	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55746209	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55790136	0.95[ASN][1000 genomes]
rs55944246	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56061198	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56176134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56199980	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59379368	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60255112	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6461247	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67088819	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67609961	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73071078	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7791775	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16453000-16460400	Weak transcription	Gastric	stomach
2	chr7:16459400-16461400	Active TSS	K562	blood
3	chr7:16459600-16460000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:16459600-16460000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:16459600-16460000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr7:16459600-16460000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:16459600-16460000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:16459600-16460000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:16459600-16460000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:16459600-16460000	Enhancers	Esophagus	oesophagus
11	chr7:16459600-16460000	Enhancers	Placenta	Placenta
12	chr7:16459600-16460000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:16459600-16460000	Enhancers	Small Intestine	intestine
14	chr7:16459600-16460000	Enhancers	Thymus	Thymus
15	chr7:16459600-16460200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:16459600-16460200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:16459600-16460200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:16459600-16460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:16459600-16460200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:16459600-16460200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr7:16459600-16460200	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr7:16459600-16460200	Flanking Active TSS	Fetal Kidney	kidney
23	chr7:16459600-16460200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:16459600-16460200	Flanking Active TSS	HepG2	liver
25	chr7:16459600-16460400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:16459600-16460400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:16459600-16460400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:16459600-16460400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr7:16459600-16460400	Flanking Active TSS	Osteobl	bone
30	chr7:16459600-16460600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:16459600-16461400	Active TSS	Brain Anterior Caudate	brain
32	chr7:16459600-16461400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:16459600-16461600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:16459600-16461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:16459600-16461600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:16459600-16461600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:16459600-16461600	Flanking Active TSS	HMEC	breast
38	chr7:16459600-16461800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:16459600-16462000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr7:16459800-16460000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:16459800-16460000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
42	chr7:16459800-16460000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:16459800-16460000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr7:16459800-16460000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:16459800-16460000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr7:16459800-16460000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:16459800-16460000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:16459800-16460000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:16459800-16460000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:16459800-16460000	Enhancers	Brain Germinal Matrix	brain

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