Variant report

Variant	rs7314150
Chromosome Location	chr12:104213731-104213732
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104211319..104217420-chr12:104233507..104236073,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1057892	0.85[CEU][hapmap]
rs12422418	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs12422615	0.85[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12422701	0.89[EUR][1000 genomes]
rs12423476	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423889	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12423912	0.90[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.93[EUR][1000 genomes]
rs12423994	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs12424929	0.89[EUR][1000 genomes]
rs12424984	0.85[EUR][1000 genomes]
rs12425283	0.80[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs1437505	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1550207	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1550208	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034524	0.81[JPT][hapmap]
rs17034593	0.90[EUR][1000 genomes]
rs17034620	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034625	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17034633	0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs17034637	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034639	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034640	0.92[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034642	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034645	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034648	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034650	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17034662	0.92[CEU][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17794246	0.85[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2289258	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs3751196	0.92[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs3812802	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55736751	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55810720	0.90[EUR][1000 genomes]
rs55932227	0.89[EUR][1000 genomes]
rs55949441	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55987022	0.89[EUR][1000 genomes]
rs55993375	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56123042	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56143748	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56147174	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56255894	0.85[EUR][1000 genomes]
rs56314567	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56403068	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57173983	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59509226	0.92[AFR][1000 genomes]
rs59651914	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59716163	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60378307	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61512578	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61748068	0.90[EUR][1000 genomes]
rs7132446	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs7295408	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485127	0.89[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:104194600-104214600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:104194600-104214800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:104194800-104215200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:104195000-104213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:104196400-104214800	Weak transcription	Brain Substantia Nigra	brain
8	chr12:104196400-104221800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:104199600-104214600	Weak transcription	Esophagus	oesophagus
10	chr12:104200000-104214600	Weak transcription	Ovary	ovary
11	chr12:104200200-104216200	Weak transcription	NHDF-Ad	bronchial
12	chr12:104201000-104214600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:104201400-104214800	Weak transcription	NHLF	lung
14	chr12:104202200-104218200	Weak transcription	Gastric	stomach
15	chr12:104202400-104214800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:104204000-104214600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:104205800-104214600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:104207200-104215400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:104207400-104217200	Weak transcription	Fetal Intestine Large	intestine
20	chr12:104207600-104214600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:104208000-104213800	Weak transcription	HSMM	muscle
22	chr12:104208000-104214600	Weak transcription	Lung	lung
23	chr12:104208000-104214800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:104208000-104215000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:104208000-104215000	Weak transcription	NH-A	brain
26	chr12:104208200-104214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:104208200-104214600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:104208200-104214600	Weak transcription	Fetal Stomach	stomach
29	chr12:104208200-104214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:104208200-104214800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:104208200-104214800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:104208200-104214800	Weak transcription	Placenta	Placenta
33	chr12:104208200-104221800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:104208200-104223200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr12:104208200-104227800	Weak transcription	Pancreas	Pancrea
36	chr12:104208400-104214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:104208400-104215400	Weak transcription	Osteobl	bone
38	chr12:104208600-104214600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:104208600-104214600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:104208600-104214600	Weak transcription	A549	lung
41	chr12:104208600-104214800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:104208600-104214800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:104208600-104221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:104208800-104214200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:104208800-104214600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:104208800-104214600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:104208800-104214800	Weak transcription	HepG2	liver
48	chr12:104208800-104227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:104209200-104214400	Weak transcription	NHEK	skin
50	chr12:104209400-104214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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