Variant report

Variant	rs7956122
Chromosome Location	chr12:123374325-123374326
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
2	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
3	chr12:123371397..123374446-chr12:123429800..123431973,3	MCF-7	breast:
4	chr12:123374002..123376738-chr12:123462505..123465359,2	MCF-7	breast:
5	chr12:123373192..123374846-chr12:123449556..123451152,2	MCF-7	breast:
6	chr12:123353502..123357222-chr12:123371821..123375830,5	MCF-7	breast:
7	chr12:123361905..123363893-chr12:123371746..123374359,2	MCF-7	breast:
8	chr12:123372928..123374670-chr12:123434344..123437637,4	MCF-7	breast:
9	chr12:123373155..123374696-chr12:123457739..123460648,2	MCF-7	breast:
10	chr12:123348287..123350765-chr12:123373068..123375043,2	MCF-7	breast:
11	chr12:123321572..123324516-chr12:123371831..123374446,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000256152	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000256028	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1671680	0.91[ASW][hapmap]
rs1696321	1.00[GIH][hapmap]
rs73406944	0.97[AFR][1000 genomes]
rs7966607	0.92[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7956122	ABCB9	cis	lymphoblastoid	seeQTL
rs7956122	VPS37B	cis	lymphoblastoid	seeQTL
rs7956122	VPS37B	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123366200-123379800	Weak transcription	Ovary	ovary
2	chr12:123367800-123375800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:123368600-123375600	Enhancers	NHDF-Ad	bronchial
4	chr12:123370400-123379400	Enhancers	Small Intestine	intestine
5	chr12:123370600-123374600	Enhancers	Pancreas	Pancrea
6	chr12:123370600-123375400	Enhancers	Spleen	Spleen
7	chr12:123370600-123377400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:123370600-123377600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:123370800-123374600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:123370800-123374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123370800-123375200	Enhancers	Lung	lung
12	chr12:123370800-123375400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:123370800-123375800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:123370800-123375800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:123370800-123378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:123371000-123375800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:123371400-123375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:123371400-123375400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:123371400-123375400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:123371400-123375800	Enhancers	NHLF	lung
21	chr12:123371400-123376400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:123371600-123374800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr12:123371600-123380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:123371800-123374600	Enhancers	Brain Angular Gyrus	brain
25	chr12:123371800-123374800	Enhancers	Fetal Brain Male	brain
26	chr12:123371800-123376200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:123371800-123376200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:123371800-123378400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:123372000-123375800	Enhancers	Brain Germinal Matrix	brain
30	chr12:123372200-123374600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:123372200-123378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:123373000-123375000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:123373000-123375000	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:123373200-123376200	Enhancers	Fetal Brain Female	brain
35	chr12:123373200-123377800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:123373200-123377800	Enhancers	Fetal Heart	heart
37	chr12:123373200-123378600	Enhancers	Liver	Liver
38	chr12:123373400-123374600	Enhancers	Fetal Intestine Small	intestine
39	chr12:123373400-123375200	Enhancers	Left Ventricle	heart
40	chr12:123373400-123375200	Enhancers	HSMMtube	muscle
41	chr12:123373400-123375200	Enhancers	K562	blood
42	chr12:123373400-123375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:123373400-123375400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:123373400-123375600	Enhancers	HSMM	muscle
45	chr12:123373400-123376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:123373400-123376400	Weak transcription	Fetal Kidney	kidney
47	chr12:123373400-123377600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:123373400-123378800	Enhancers	Fetal Muscle Leg	muscle
49	chr12:123373400-123379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:123373600-123374600	Enhancers	Right Atrium	heart

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