Variant report

Variant	rs8176346
Chromosome Location	chr12:58158104-58158105
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs238527	1.00[ASN][1000 genomes]
rs3211605	1.00[ASN][1000 genomes]
rs3211607	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3211614	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3211618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3211627	1.00[AMR][1000 genomes]
rs4016098	1.00[EUR][1000 genomes]
rs4447215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4760323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs73338229	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338231	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338254	1.00[EUR][1000 genomes]
rs8176339	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8176344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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:35 , 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	chr12:58153000-58158200	Weak transcription	Gastric	stomach
5	chr12:58153600-58158200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:58153800-58158200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:58154000-58158200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:58154000-58158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:58154000-58158200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:58154000-58162200	Weak transcription	Dnd41	blood
11	chr12:58154800-58160000	Weak transcription	Aorta	Aorta
12	chr12:58155800-58158400	Weak transcription	HepG2	liver
13	chr12:58156600-58159000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:58156600-58159000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:58156600-58159000	Transcr. at gene 5' and 3'	NHEK	skin
16	chr12:58156800-58161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:58157000-58162200	Weak transcription	Hela-S3	cervix
18	chr12:58157400-58158200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:58157400-58158400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr12:58157400-58158600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:58157400-58159200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:58157800-58158200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:58157800-58158400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr12:58158000-58158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:58158000-58158200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr12:58158000-58158200	Transcr. at gene 5' and 3'	HMEC	breast
27	chr12:58158000-58158400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr12:58158000-58158600	Enhancers	Esophagus	oesophagus
29	chr12:58158000-58158600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr12:58158000-58158600	Enhancers	Lung	lung
31	chr12:58158000-58158800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
32	chr12:58158000-58158800	Bivalent Enhancer	Placenta	Placenta
33	chr12:58158000-58159000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
34	chr12:58158000-58160800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr12:58158000-58161000	Flanking Active TSS	Pancreas	Pancrea

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