Variant report

Variant	rs17730185
Chromosome Location	chr7:127421482-127421483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127418258..127422061-chr7:127422146..127424884,5	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10487494	0.82[ASN][1000 genomes]
rs10487496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs13227138	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13235596	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13240628	0.84[AFR][1000 genomes]
rs13244426	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13247976	0.82[ASN][1000 genomes]
rs17660187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17662800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17663644	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17718364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17733783	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2272374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34188289	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34209480	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34250605	0.89[AMR][1000 genomes]
rs34365152	0.82[ASN][1000 genomes]
rs34388330	0.82[ASN][1000 genomes]
rs34599926	0.85[ASN][1000 genomes]
rs34844752	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874680	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34980225	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35120956	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246122	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35307919	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35421080	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35521470	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35528098	0.82[ASN][1000 genomes]
rs35585856	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35602492	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35640048	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35872516	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36043097	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36046498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757762	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3779525	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3808062	0.86[ASN][1000 genomes]
rs3808090	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes]
rs3808096	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58341788	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58451280	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481380	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481393	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481453	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62483172	0.82[ASN][1000 genomes]
rs6948752	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs737242	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs746238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788592	0.89[AMR][1000 genomes]
rs7808161	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811506	0.82[EUR][1000 genomes];0.85[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
4	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127396400-127422200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:127401000-127422000	Weak transcription	Small Intestine	intestine
8	chr7:127401000-127422400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:127401000-127427000	Weak transcription	HepG2	liver
10	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
11	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
12	chr7:127402800-127422200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
15	chr7:127407400-127447600	Weak transcription	Dnd41	blood
16	chr7:127407600-127422000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:127408000-127421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:127408200-127422200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:127408600-127422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:127409400-127430200	Weak transcription	Liver	Liver
23	chr7:127409600-127422000	Weak transcription	A549	lung
24	chr7:127409600-127422400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:127410200-127422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:127410200-127425000	Weak transcription	Ovary	ovary
27	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
28	chr7:127411400-127422200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:127411400-127422600	Weak transcription	Pancreas	Pancrea
30	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
31	chr7:127413000-127422200	Weak transcription	Primary B cells from cord blood	blood
32	chr7:127414600-127427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:127414800-127421800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:127416800-127423200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr7:127417400-127422400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:127417400-127422600	Weak transcription	NHEK	skin
37	chr7:127417600-127422000	Weak transcription	HMEC	breast
38	chr7:127417600-127422400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:127418000-127422200	Weak transcription	NHLF	lung
40	chr7:127418000-127422600	Weak transcription	NH-A	brain
41	chr7:127418000-127427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:127418200-127422000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:127418200-127422400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:127418200-127426000	Weak transcription	HSMMtube	muscle
45	chr7:127418800-127422000	Weak transcription	Osteobl	bone
46	chr7:127418800-127422400	Weak transcription	NHDF-Ad	bronchial
47	chr7:127419000-127422600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:127419000-127422600	Weak transcription	HSMM	muscle
49	chr7:127419200-127422600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr7:127419400-127421600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links