Variant report

Variant	rs4135150
Chromosome Location	chr12:104383599-104383600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104383417..104385219-chr12:104388267..104391662,3	K562	blood:
2	chr12:104382759..104385479-chr12:104389047..104390851,2	MCF-7	breast:
3	chr12:104374585..104376211-chr12:104383333..104385407,2	K562	blood:
4	chr12:104358198..104360459-chr12:104381856..104384067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120820	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10778307	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11553765	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12426382	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17034946	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17034960	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17035056	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs17035129	0.95[AMR][1000 genomes]
rs1882019	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2293626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629805	0.99[ASN][1000 genomes]
rs2722200	0.91[ASN][1000 genomes]
rs2888805	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3751208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3829300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4135060	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4135065	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4135076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135078	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4135085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4135086	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4135087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4135092	0.83[CEU][hapmap]
rs4135094	0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4135095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4135118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4135131	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55780086	0.89[EUR][1000 genomes]
rs55871448	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55893407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60534873	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73390446	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9788136	0.82[CEU][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
4	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:104364600-104383800	Strong transcription	Dnd41	blood
6	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:104370600-104384000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:104370600-104385000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:104372800-104384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104373600-104384800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:104376800-104386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
19	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:104379400-104385800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:104379600-104386200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:104379600-104387000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:104379800-104386200	Weak transcription	NHDF-Ad	bronchial
25	chr12:104380200-104386200	Weak transcription	Small Intestine	intestine
26	chr12:104380600-104385400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104380600-104388000	Weak transcription	NHEK	skin
28	chr12:104380800-104384000	Weak transcription	Fetal Intestine Small	intestine
29	chr12:104380800-104385000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:104380800-104386000	Weak transcription	Colonic Mucosa	Colon
31	chr12:104380800-104386400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:104380800-104386400	Weak transcription	Fetal Stomach	stomach
33	chr12:104380800-104386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:104380800-104387000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:104380800-104387200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:104380800-104387200	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:104380800-104387800	Weak transcription	HSMMtube	muscle
38	chr12:104380800-104388200	Weak transcription	Psoas Muscle	Psoas
39	chr12:104380800-104391400	Weak transcription	Ovary	ovary
40	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
41	chr12:104380800-104400200	Weak transcription	NHLF	lung
42	chr12:104381000-104384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:104381000-104384800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:104381000-104384800	Weak transcription	Pancreas	Pancrea
45	chr12:104381000-104385000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:104381000-104385000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:104381000-104385000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:104381000-104385000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:104381000-104385000	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:104381000-104385800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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