Variant report

Variant	rs2307083
Chromosome Location	chr12:50480553-50480554
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50475132..50479699-chr12:50479828..50484275,5	K562	blood:
2	chr12:50479656..50481335-chr12:50569381..50571958,2	MCF-7	breast:
3	chr12:50477150..50481052-chr12:50559881..50562931,6	MCF-7	breast:
4	chr12:50478595..50483647-chr12:50502911..50507517,7	K562	blood:
5	chr12:50466696..50474949-chr12:50474970..50481457,17	MCF-7	breast:
6	chr12:50472028..50474859-chr12:50477717..50480636,3	MCF-7	breast:
7	chr12:50477670..50481382-chr12:50495555..50500836,7	K562	blood:
8	chr12:50478449..50481902-chr12:50536030..50539935,3	MCF-7	breast:
9	chr12:50478759..50480659-chr12:50481009..50483998,3	K562	blood:
10	chr12:50135082..50136603-chr12:50479268..50481708,2	MCF-7	breast:
11	chr12:50475972..50484033-chr12:50500850..50507517,14	K562	blood:
12	chr12:50477567..50484756-chr12:50559008..50565131,16	MCF-7	breast:
13	chr12:50464456..50466840-chr12:50477683..50480596,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167588	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000066117	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10082763	1.00[ASN][1000 genomes]
rs11169265	1.00[ASN][1000 genomes]
rs3741561	1.00[ASN][1000 genomes]
rs629874	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	117 gene(s)	inside rSNPs	diseases
4	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv558840	chr12:50449976-50523964	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv3437172	chr12:50478110-50480658	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50478400-50480600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:50478800-50480600	Active TSS	Brain Germinal Matrix	brain
3	chr12:50479600-50480800	Weak transcription	Aorta	Aorta
4	chr12:50479600-50482400	Weak transcription	Ovary	ovary
5	chr12:50479800-50480600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:50479800-50480800	Weak transcription	Colonic Mucosa	Colon
7	chr12:50479800-50480800	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr12:50479800-50481600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:50479800-50488200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:50480000-50480600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:50480000-50480600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:50480000-50480600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:50480000-50480600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:50480000-50480600	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:50480000-50480600	Weak transcription	Brain Substantia Nigra	brain
16	chr12:50480000-50480600	Enhancers	Fetal Heart	heart
17	chr12:50480000-50480600	Weak transcription	Small Intestine	intestine
18	chr12:50480000-50480600	Enhancers	HUVEC	blood vessel
19	chr12:50480000-50480600	Weak transcription	NHDF-Ad	bronchial
20	chr12:50480000-50480800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:50480000-50480800	Genic enhancers	Fetal Intestine Small	intestine
22	chr12:50480000-50480800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:50480000-50481400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:50480000-50482000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:50480000-50482200	Enhancers	Fetal Brain Male	brain
26	chr12:50480000-50482400	Weak transcription	Fetal Kidney	kidney
27	chr12:50480000-50482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:50480000-50483600	Weak transcription	Right Ventricle	heart
29	chr12:50480000-50485400	Weak transcription	Stomach Mucosa	stomach
30	chr12:50480000-50486000	Strong transcription	Colon Smooth Muscle	Colon
31	chr12:50480000-50494800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:50480000-50496400	Weak transcription	Right Atrium	heart
33	chr12:50480200-50480600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:50480200-50480600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:50480200-50480600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:50480200-50480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:50480200-50480600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:50480200-50480600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:50480200-50480600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:50480200-50480600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:50480200-50480600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:50480200-50480600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:50480200-50480600	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:50480200-50480600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:50480200-50480600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:50480200-50480600	Weak transcription	Gastric	stomach
47	chr12:50480200-50480600	Weak transcription	Left Ventricle	heart
48	chr12:50480200-50480600	Weak transcription	Pancreas	Pancrea
49	chr12:50480200-50480600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:50480200-50480600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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