Variant report

Variant	rs7311663
Chromosome Location	chr12:48061351-48061352
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48059314..48062042-chr12:48063084..48066316,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10783212	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875677	0.99[ASN][1000 genomes]
rs10875682	0.97[ASN][1000 genomes]
rs10875685	0.89[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs10875686	0.83[ASN][1000 genomes]
rs10875687	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs10875688	0.81[ASN][1000 genomes]
rs11168191	1.00[ASN][1000 genomes]
rs11168192	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs11168193	1.00[ASN][1000 genomes]
rs11168199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11168200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11168203	0.97[ASN][1000 genomes]
rs11168208	0.94[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11168214	0.81[ASN][1000 genomes]
rs11168215	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11168216	0.81[ASN][1000 genomes]
rs12366410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12367193	0.97[ASN][1000 genomes]
rs12370643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541384	0.97[ASN][1000 genomes]
rs2072117	0.81[ASN][1000 genomes]
rs2240079	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2240080	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2283346	0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs3764013	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs56240307	0.92[ASN][1000 genomes]
rs582680	0.92[ASN][1000 genomes]
rs602143	0.93[ASN][1000 genomes]
rs612773	0.93[ASN][1000 genomes]
rs61917590	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61917591	0.94[ASN][1000 genomes]
rs61917594	0.99[ASN][1000 genomes]
rs61917595	0.98[ASN][1000 genomes]
rs61917616	0.81[ASN][1000 genomes]
rs61917617	0.81[ASN][1000 genomes]
rs630777	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs632944	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646223	0.92[ASN][1000 genomes]
rs6580634	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671961	0.93[ASN][1000 genomes]
rs7136561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7137529	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7484827	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7954502	0.94[ASN][1000 genomes]
rs7969186	0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7976748	0.94[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7977613	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948393	0.84[AFR][1000 genomes]

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	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv695	chr12:48043261-48088221	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
3	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
4	chr12:48043400-48080000	Weak transcription	NHEK	skin
5	chr12:48045200-48079200	Weak transcription	NHLF	lung
6	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
7	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
11	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
12	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:48046600-48099200	Weak transcription	Gastric	stomach
14	chr12:48046800-48079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:48050200-48065800	Weak transcription	Fetal Heart	heart
19	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
20	chr12:48051400-48069200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:48051800-48069400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
23	chr12:48052600-48063200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:48052800-48062000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:48052800-48064800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:48052800-48065000	Strong transcription	Dnd41	blood
27	chr12:48052800-48065200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:48052800-48065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:48053000-48063400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:48053000-48068600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:48053200-48062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:48053600-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:48055200-48062800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:48055200-48062800	Strong transcription	NH-A	brain
35	chr12:48055200-48083200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:48055400-48061800	Strong transcription	K562	blood
37	chr12:48056000-48062200	Weak transcription	Brain Anterior Caudate	brain
38	chr12:48056000-48073000	Weak transcription	Fetal Brain Female	brain
39	chr12:48056000-48075000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart
41	chr12:48057200-48067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:48057200-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:48057400-48062800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:48057600-48063000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:48057800-48063000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:48058000-48098600	Weak transcription	Colonic Mucosa	Colon
47	chr12:48058200-48062600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:48058200-48062800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:48058200-48063000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:48058200-48063000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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