Variant report

Variant	rs6712597
Chromosome Location	chr2:99373720-99373721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99367443..99369636-chr2:99372138..99374766,2	MCF-7	breast:
2	chr2:99359454..99362384-chr2:99372139..99374340,2	MCF-7	breast:
3	chr2:99373556..99376525-chr2:99380957..99383343,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166044	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10189330	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs10200288	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11885883	0.80[ASN][1000 genomes]
rs12615301	0.80[ASN][1000 genomes]
rs12993424	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12999225	0.84[ASN][1000 genomes]
rs13391483	0.80[ASN][1000 genomes]
rs1517681	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1913621	0.80[ASN][1000 genomes]
rs2013983	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34521960	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35477458	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4851154	0.80[ASN][1000 genomes]
rs6712079	0.93[EUR][1000 genomes]
rs6716514	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7557295	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7570815	0.83[ASN][1000 genomes]
rs7581128	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7582382	0.82[CHB][hapmap];0.85[CHD][hapmap];0.83[ASN][1000 genomes]
rs9308815	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv520854	chr2:99369757-99373720	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
2	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
3	chr2:99365800-99374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:99367400-99374000	Weak transcription	Esophagus	oesophagus
5	chr2:99371000-99373800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:99371200-99373800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:99371200-99374000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:99371600-99374000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:99371600-99374400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:99372200-99373800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:99372200-99374000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:99372200-99374000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:99372200-99380800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:99372800-99374000	Enhancers	Primary T cells from cord blood	blood
15	chr2:99373000-99374200	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:99373000-99374400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:99373200-99374200	Enhancers	Primary B cells from cord blood	blood
18	chr2:99373200-99374400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:99373400-99373800	Enhancers	Dnd41	blood
20	chr2:99373400-99374200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:99373400-99374200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:99373400-99378600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:99373600-99374000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:99373600-99374000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:99373600-99374200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:99373600-99374400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:99373600-99374400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:99373600-99374400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:99373600-99374800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:99373600-99374800	Enhancers	Stomach Mucosa	stomach
31	chr2:99373600-99375200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:99373600-99377800	Enhancers	HUVEC	blood vessel
33	chr2:99373600-99378400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:99373600-99378800	Enhancers	Primary hematopoietic stem cells	blood

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