Variant report

Variant	rs8176348
Chromosome Location	chr12:58157133-58157134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57924781..57927156-chr12:58155271..58157276,2	MCF-7	breast:
2	chr12:58155623..58158327-chr12:58204942..58207144,2	MCF-7	breast:
3	chr12:58156406..58160029-chr12:58238044..58241191,3	MCF-7	breast:
4	chr12:58156984..58159427-chr17:57858863..57860649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11172322	0.87[ASW][hapmap];1.00[MEX][hapmap]
rs11172325	0.87[ASW][hapmap];1.00[MEX][hapmap]
rs11172327	1.00[MEX][hapmap]
rs11172336	0.88[ASW][hapmap];0.83[AMR][1000 genomes]
rs11172339	0.83[AMR][1000 genomes]
rs12297639	0.83[AMR][1000 genomes]
rs12321371	0.83[AMR][1000 genomes]
rs1389302	0.93[YRI][hapmap];0.83[AMR][1000 genomes]
rs17119958	1.00[MEX][hapmap]
rs8176353	1.00[MEX][hapmap]

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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58150400-58158400	Weak transcription	Right Atrium	heart
2	chr12:58150600-58158600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:58152200-58160000	Weak transcription	K562	blood
4	chr12:58152400-58157400	Weak transcription	HSMMtube	muscle
5	chr12:58152600-58157200	Weak transcription	Liver	Liver
6	chr12:58152800-58158000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:58153000-58157200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:58153000-58157400	Weak transcription	Pancreas	Pancrea
9	chr12:58153000-58158000	Weak transcription	GM12878-XiMat	blood
10	chr12:58153000-58158200	Weak transcription	Gastric	stomach
11	chr12:58153200-58158000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:58153200-58158000	Weak transcription	Esophagus	oesophagus
13	chr12:58153200-58158000	Weak transcription	Lung	lung
14	chr12:58153400-58157800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:58153400-58158000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:58153400-58158000	Weak transcription	Placenta	Placenta
17	chr12:58153600-58157200	Weak transcription	Fetal Intestine Large	intestine
18	chr12:58153600-58158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:58153800-58158200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:58154000-58158200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:58154000-58158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:58154000-58158200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:58154000-58162200	Weak transcription	Dnd41	blood
24	chr12:58154400-58157800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:58154800-58160000	Weak transcription	Aorta	Aorta
26	chr12:58155000-58157200	Weak transcription	Primary B cells from cord blood	blood
27	chr12:58155000-58157800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:58155000-58158000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:58155200-58157400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:58155800-58158400	Weak transcription	HepG2	liver
31	chr12:58156400-58157400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:58156600-58158000	Genic enhancers	HMEC	breast
33	chr12:58156600-58159000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:58156600-58159000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:58156600-58159000	Transcr. at gene 5' and 3'	NHEK	skin
36	chr12:58156800-58161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:58157000-58158000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:58157000-58162200	Weak transcription	Hela-S3	cervix

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