Variant report

Variant	rs7953776
Chromosome Location	chr12:120120193-120120194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120116075..120118717-chr12:120119086..120121291,2	K562	blood:
2	chr12:120119419..120120944-chr12:120218866..120221340,2	MCF-7	breast:
3	chr12:120119326..120121851-chr12:120158588..120161443,2	MCF-7	breast:
4	chr12:120105122..120114412-chr12:120115205..120125435,13	MCF-7	breast:
5	chr12:120118680..120120243-chr12:120122175..120124778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111725	Chromatin interaction
ENSG00000248636	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10774512	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12309592	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1985793	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393549	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393550	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278124	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2893806	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4767838	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6490264	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6490265	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7969977	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120107400-120120400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:120107800-120120200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:120107800-120120200	Strong transcription	Stomach Smooth Muscle	stomach
4	chr12:120107800-120120600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:120108000-120120600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:120108200-120120200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:120108200-120120400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr12:120108200-120122000	Strong transcription	A549	lung
9	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:120108400-120120200	Strong transcription	Osteobl	bone
11	chr12:120108600-120120200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:120108600-120120200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:120108800-120120200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:120108800-120120200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:120108800-120120800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:120109000-120120200	Strong transcription	Dnd41	blood
17	chr12:120109200-120120200	Strong transcription	Thymus	Thymus
18	chr12:120109200-120121200	Strong transcription	Fetal Stomach	stomach
19	chr12:120109400-120120200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr12:120109400-120120200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:120109400-120120400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:120109400-120121200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:120109600-120120400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:120110000-120120200	Strong transcription	NHLF	lung
25	chr12:120110000-120120400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:120110000-120120400	Strong transcription	Brain Germinal Matrix	brain
27	chr12:120110200-120120200	Strong transcription	Pancreas	Pancrea
28	chr12:120110400-120120200	Strong transcription	NH-A	brain
29	chr12:120110600-120120400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:120111000-120120400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:120111200-120120400	Strong transcription	HSMMtube	muscle
32	chr12:120111600-120120400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:120111600-120120400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:120111800-120120200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:120112000-120120200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:120112000-120120200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:120112000-120120200	Strong transcription	Gastric	stomach
38	chr12:120112000-120120800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:120112600-120120200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:120112600-120120200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:120112600-120130400	Weak transcription	Right Atrium	heart
42	chr12:120113000-120120200	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:120113200-120121200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:120113800-120120200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:120114400-120120400	Strong transcription	HSMM	muscle
46	chr12:120114600-120120200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:120115200-120120200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:120115200-120120200	Genic enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:120116400-120120200	Genic enhancers	Fetal Intestine Large	intestine
50	chr12:120116400-120120200	Genic enhancers	Rectal Mucosa Donor 29	rectum

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