Variant report

Variant	rs17161201
Chromosome Location	chr7:139576284-139576285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139574689..139577649-chr7:139580530..139584809,4	K562	blood:
2	chr7:139574219..139576621-chr7:139617525..139620344,2	K562	blood:
3	chr7:139568957..139570819-chr7:139574917..139577389,2	MCF-7	breast:
4	chr7:139548143..139550400-chr7:139575371..139578178,2	K562	blood:
5	chr7:139569773..139572484-chr7:139574430..139577098,5	K562	blood:
6	chr7:139570208..139572010-chr7:139574757..139577098,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10252208	1.00[MEX][hapmap]
rs10255449	1.00[MEX][hapmap]
rs10261500	1.00[MEX][hapmap]
rs10261757	1.00[MEX][hapmap]
rs10271046	1.00[MEX][hapmap]
rs17161128	1.00[MEX][hapmap]
rs17161175	0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17161190	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17161194	1.00[EUR][1000 genomes]
rs17161198	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17161199	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161200	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161202	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17161230	1.00[MEX][hapmap]
rs17161239	0.85[GIH][hapmap]
rs17161272	1.00[MEX][hapmap]
rs1859568	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2158667	1.00[MEX][hapmap]
rs4529	1.00[MEX][hapmap]
rs55723240	1.00[EUR][1000 genomes]
rs56380154	1.00[EUR][1000 genomes]
rs56847881	1.00[EUR][1000 genomes]
rs58206741	1.00[EUR][1000 genomes]
rs59134510	1.00[EUR][1000 genomes]
rs59445537	1.00[EUR][1000 genomes]
rs60560151	1.00[EUR][1000 genomes]
rs6954520	1.00[MEX][hapmap]
rs6963499	1.00[MEX][hapmap]
rs6963553	1.00[MEX][hapmap]
rs6964028	1.00[MEX][hapmap]
rs73734120	1.00[EUR][1000 genomes]
rs73734125	1.00[EUR][1000 genomes]
rs73734133	1.00[EUR][1000 genomes]
rs7777901	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs8192812	1.00[ASW][hapmap]
rs8192842	1.00[ASW][hapmap]
rs9886179	0.90[EUR][1000 genomes]
rs9886217	1.00[TSI][hapmap];0.90[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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139567400-139598400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139570000-139587800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:139571200-139596800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139571600-139577200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:139571600-139582400	Weak transcription	Colonic Mucosa	Colon
6	chr7:139571800-139584000	Weak transcription	Fetal Kidney	kidney
7	chr7:139572000-139576600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:139572000-139576600	Weak transcription	Osteobl	bone
9	chr7:139572000-139577400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:139572000-139577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:139572000-139579800	Weak transcription	NH-A	brain
12	chr7:139572200-139576600	Weak transcription	NHLF	lung
13	chr7:139573400-139576800	Weak transcription	Lung	lung
14	chr7:139573600-139586600	Weak transcription	Right Atrium	heart
15	chr7:139573800-139597600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:139575200-139576800	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:139575400-139577200	Strong transcription	Fetal Thymus	thymus
18	chr7:139575400-139577200	Enhancers	Stomach Mucosa	stomach
19	chr7:139575600-139576400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr7:139575600-139576400	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr7:139575600-139576400	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr7:139575600-139576400	Enhancers	Pancreas	Pancrea
23	chr7:139575600-139576400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:139575600-139576400	Enhancers	HepG2	liver
25	chr7:139575600-139576600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr7:139575600-139576800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr7:139575600-139576800	Enhancers	Small Intestine	intestine
28	chr7:139575600-139577000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:139575600-139577000	Strong transcription	Thymus	Thymus
30	chr7:139575600-139577200	Enhancers	A549	lung
31	chr7:139575800-139576400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:139575800-139576400	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:139575800-139576400	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:139575800-139576600	Enhancers	Spleen	Spleen
35	chr7:139575800-139577000	Enhancers	K562	blood
36	chr7:139575800-139577600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:139575800-139577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:139575800-139578600	Enhancers	NHDF-Ad	bronchial
39	chr7:139576000-139576400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:139576000-139576800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:139576000-139577400	Enhancers	Gastric	stomach
42	chr7:139576000-139580000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:139576000-139582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:139576200-139576400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:139576200-139576600	Weak transcription	Left Ventricle	heart
46	chr7:139576200-139579000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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