Variant report

Variant	rs17097611
Chromosome Location	chr12:47505927-47505928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:47477506..47479966-chr12:47504331..47505942,2	MCF-7	breast:
2	chr12:46661693..46664052-chr12:47504181..47506068,2	MCF-7	breast:
3	chr12:47505501..47507433-chr12:47508712..47510717,3	MCF-7	breast:
4	chr12:47473314..47475298-chr12:47505510..47507268,2	MCF-7	breast:
5	chr12:47498187..47500016-chr12:47505594..47507866,2	MCF-7	breast:
6	chr12:47501292..47504414-chr12:47505571..47508209,3	K562	blood:
7	chr12:47501963..47504414-chr12:47505571..47508209,2	K562	blood:
8	chr12:47496951..47502248-chr12:47502735..47506600,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139211	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10160997	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1581558	0.93[EUR][1000 genomes]
rs1581559	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1608824	0.93[YRI][hapmap]
rs17097622	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs17097633	1.00[CEU][hapmap];0.83[GIH][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes]
rs17097665	0.95[YRI][hapmap]
rs17097666	0.94[YRI][hapmap]
rs60255733	0.93[EUR][1000 genomes]
rs60820583	0.93[EUR][1000 genomes]
rs60923415	0.93[EUR][1000 genomes]
rs6650222	0.87[EUR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47492000-47508200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:47492200-47511600	Weak transcription	Lung	lung
3	chr12:47494400-47514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:47494400-47514600	Weak transcription	NH-A	brain
5	chr12:47497200-47508000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
7	chr12:47497600-47511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:47497600-47514600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:47497800-47514800	Weak transcription	Osteobl	bone
10	chr12:47498800-47511000	Weak transcription	Ovary	ovary
11	chr12:47499600-47514800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr12:47501800-47512600	Weak transcription	Spleen	Spleen
13	chr12:47502200-47506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:47502200-47507200	Weak transcription	HSMMtube	muscle
15	chr12:47502200-47508200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:47502400-47507200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:47503800-47506200	Strong transcription	HSMM	muscle
18	chr12:47504000-47506200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:47504200-47506000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:47504200-47506200	Enhancers	Primary T cells from cord blood	blood
21	chr12:47504200-47506400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:47504200-47508400	Weak transcription	A549	lung
23	chr12:47504400-47506000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:47504400-47506200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:47504400-47506400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:47504600-47506000	Strong transcription	NHEK	skin
27	chr12:47504600-47506200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:47505000-47508200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:47505600-47506000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:47505600-47506200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:47505600-47506200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:47505600-47506800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:47505600-47507200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:47505800-47506200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:47505800-47507000	Enhancers	HMEC	breast
37	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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