Variant report

Variant	rs7459831
Chromosome Location	chr8:52781083-52781084
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52780733..52786342-chr8:52810229..52813272,6	MCF-7	breast:
2	chr8:52778955..52782186-chr8:52783588..52785902,4	K562	blood:

Variant related genes	Relation type
ENSG00000168300	Chromatin interaction
ENSG00000228801	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12164174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4321995	0.88[AFR][1000 genomes]
rs4401853	0.88[AFR][1000 genomes]
rs4418330	0.87[AFR][1000 genomes]
rs4518654	0.87[AFR][1000 genomes]
rs4545087	0.98[AFR][1000 genomes]
rs4565452	0.85[AFR][1000 genomes]
rs4607598	0.83[AMR][1000 genomes]
rs4873614	0.83[AMR][1000 genomes]
rs4873615	0.83[AMR][1000 genomes]
rs4873620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473662	0.83[AMR][1000 genomes]
rs6473664	1.00[AMR][1000 genomes]
rs6997972	0.85[AFR][1000 genomes]
rs7459885	0.83[AMR][1000 genomes]
rs7816619	0.83[AMR][1000 genomes]
rs7827030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9298468	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv526922	chr8:52772515-52786791	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:52739800-52782600	Weak transcription	K562	blood
3	chr8:52759000-52786200	Weak transcription	Lung	lung
4	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
5	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:52764000-52781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:52764000-52783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:52764200-52782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:52767400-52796600	Weak transcription	Fetal Brain Male	brain
11	chr8:52769800-52781200	Weak transcription	Hela-S3	cervix
12	chr8:52769800-52782600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:52769800-52785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:52769800-52793600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:52771000-52797800	Weak transcription	Fetal Stomach	stomach
16	chr8:52771800-52782600	Weak transcription	NHLF	lung
17	chr8:52771800-52786200	Weak transcription	Gastric	stomach
18	chr8:52771800-52797000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
20	chr8:52772000-52781800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:52772000-52783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:52772000-52783800	Weak transcription	Ovary	ovary
23	chr8:52772200-52782600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
25	chr8:52772400-52782600	Weak transcription	HSMM	muscle
26	chr8:52772400-52793200	Weak transcription	Fetal Heart	heart
27	chr8:52772600-52782600	Weak transcription	NH-A	brain
28	chr8:52772600-52786000	Weak transcription	Pancreas	Pancrea
29	chr8:52772800-52781800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:52772800-52782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:52772800-52782600	Weak transcription	HUVEC	blood vessel
32	chr8:52773000-52781800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:52773000-52786000	Weak transcription	Psoas Muscle	Psoas
34	chr8:52773000-52791200	Weak transcription	Thymus	Thymus
35	chr8:52773000-52803200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:52773200-52781800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:52773200-52782600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:52773200-52782600	Weak transcription	NHEK	skin
39	chr8:52773600-52782400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:52773600-52797000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:52773600-52797200	Weak transcription	Placenta	Placenta
42	chr8:52775600-52782400	Weak transcription	Brain Anterior Caudate	brain
43	chr8:52775600-52786200	Weak transcription	Small Intestine	intestine
44	chr8:52776600-52782400	Weak transcription	Left Ventricle	heart
45	chr8:52776600-52782800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:52778000-52781800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:52779000-52781800	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:52779200-52781800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:52779400-52781200	ZNF genes & repeats	A549	lung
50	chr8:52779400-52781800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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