Variant report

Variant	rs6725087
Chromosome Location	chr2:10117122-10117123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10116985..10119097-chr2:10121014..10124029,3	MCF-7	breast:
2	chr2:10113040..10115115-chr2:10116343..10118491,3	MCF-7	breast:
3	chr2:10107517..10109483-chr2:10116044..10117875,2	K562	blood:
4	chr2:10110373..10112449-chr2:10116359..10118235,2	MCF-7	breast:
5	chr2:10115856..10117768-chr2:10213070..10215321,2	K562	blood:
6	chr2:10116612..10118624-chr2:10184791..10186448,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11674576	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690988	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883961	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886114	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886486	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887890	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889061	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902236	0.94[ASN][1000 genomes]
rs11902932	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401891	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867262	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867266	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17455130	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897164	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003911	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012320	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2116014	0.94[ASN][1000 genomes]
rs2116015	0.94[ASN][1000 genomes]
rs2163336	0.94[ASN][1000 genomes]
rs3791761	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3791763	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791764	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828262	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41264205	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4482455	0.82[ASN][1000 genomes]
rs4635506	0.82[ASN][1000 genomes]
rs59345896	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66920316	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67093290	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711126	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716765	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721359	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67223835	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735737	0.82[ASN][1000 genomes]
rs6739827	0.94[ASN][1000 genomes]
rs6749296	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750565	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750946	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784430	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72784434	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784441	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72784463	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730922	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162262	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162264	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913937	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73913938	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891499	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10106000-10119800	Weak transcription	Dnd41	blood
7	chr2:10110200-10117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:10110600-10117200	Enhancers	NHDF-Ad	bronchial
9	chr2:10112600-10117200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:10113200-10117200	Enhancers	HUVEC	blood vessel
11	chr2:10113400-10124200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:10113600-10117200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:10113800-10124600	Weak transcription	Fetal Kidney	kidney
17	chr2:10114200-10124200	Weak transcription	K562	blood
18	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:10115400-10117200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:10115400-10118200	Weak transcription	Liver	Liver
21	chr2:10116200-10117200	Enhancers	Adipose Nuclei	Adipose
22	chr2:10116400-10118800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:10116400-10120200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:10116600-10117200	Enhancers	A549	lung
25	chr2:10116600-10118600	Strong transcription	Placenta	Placenta
26	chr2:10116600-10120200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:10116800-10117200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:10116800-10119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:10116800-10120600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10116800-10121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:10116800-10124400	Weak transcription	Right Ventricle	heart
32	chr2:10116800-10125000	Weak transcription	Right Atrium	heart
33	chr2:10116800-10126200	Weak transcription	Esophagus	oesophagus
34	chr2:10117000-10117200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:10117000-10118200	Weak transcription	HepG2	liver
36	chr2:10117000-10119400	Weak transcription	Osteobl	bone
37	chr2:10117000-10120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:10117000-10120400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:10117000-10121000	Weak transcription	NHLF	lung
40	chr2:10117000-10122600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:10117000-10123200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:10117000-10123800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:10117000-10124200	Weak transcription	Lung	lung
44	chr2:10117000-10124200	Weak transcription	Rectal Smooth Muscle	rectum

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