Variant report

Variant	rs12952222
Chromosome Location	chr17:37957133-37957134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37909990..37912890-chr17:37955777..37957738,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12943460	0.82[AFR][1000 genomes]
rs12945567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34145888	1.00[AMR][1000 genomes]
rs34233048	0.81[AFR][1000 genomes]
rs34406947	1.00[AMR][1000 genomes]
rs34715089	1.00[AMR][1000 genomes]
rs34869948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34872040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34894549	1.00[AMR][1000 genomes]
rs35226954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35708591	1.00[AMR][1000 genomes]
rs35802901	1.00[AMR][1000 genomes]
rs35932672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5644	1.00[AMR][1000 genomes]
rs57074971	1.00[AMR][1000 genomes]
rs58627150	1.00[AMR][1000 genomes]
rs59016861	1.00[AMR][1000 genomes]
rs59294054	1.00[AMR][1000 genomes]
rs66639406	1.00[AMR][1000 genomes]
rs66788250	1.00[AMR][1000 genomes]
rs67599922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67919571	1.00[AMR][1000 genomes]
rs73294102	1.00[AMR][1000 genomes]
rs73302113	1.00[AMR][1000 genomes]
rs73302117	1.00[AMR][1000 genomes]
rs73302153	0.81[AFR][1000 genomes]
rs73308310	1.00[AMR][1000 genomes]
rs73308323	1.00[AMR][1000 genomes]
rs73308329	1.00[AMR][1000 genomes]
rs73308333	1.00[AMR][1000 genomes]
rs9941391	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37939000-37961800	Weak transcription	Spleen	Spleen
2	chr17:37950000-37957200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:37950000-37959400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:37951600-37969800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:37952400-37959400	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr17:37954200-37959400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:37954600-37958200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr17:37955000-37958000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:37955000-37958800	Enhancers	Fetal Thymus	thymus
10	chr17:37955200-37957200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:37955200-37957800	Enhancers	Thymus	Thymus
12	chr17:37955200-37958000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr17:37955400-37957200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr17:37955400-37957200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:37955400-37957400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr17:37955400-37957400	Genic enhancers	Primary B cells from cord blood	blood
17	chr17:37955400-37957600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr17:37955400-37957800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr17:37955600-37957200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr17:37955600-37957600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr17:37955800-37958200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr17:37956200-37957600	Enhancers	Dnd41	blood
23	chr17:37956600-37957200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:37956600-37957200	Enhancers	NHEK	skin
25	chr17:37956600-37957400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr17:37956600-37957400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr17:37956600-37958000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:37956800-37957200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:37956800-37957200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr17:37956800-37957200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:37956800-37957400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr17:37956800-37957400	Enhancers	HMEC	breast
33	chr17:37956800-37957600	Enhancers	Small Intestine	intestine
34	chr17:37956800-37957800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:37956800-37957800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
36	chr17:37956800-37959400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr17:37957000-37957200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr17:37957000-37957400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr17:37957000-37957400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:37957000-37957400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr17:37957000-37959400	Enhancers	Primary T cells from cord blood	blood

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