Variant report

Variant	rs11168194
Chromosome Location	chr12:48059284-48059285
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	chr12:48058375..48060319-chr12:48098023..48100043,2	K562	blood:

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10431525	1.00[AFR][1000 genomes]
rs10875683	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs11168186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11830795	0.81[JPT][hapmap]
rs11834770	0.81[JPT][hapmap]
rs1235152	0.81[JPT][hapmap]
rs12819759	0.81[JPT][hapmap]
rs2074531	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs2074532	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs2238144	0.81[JPT][hapmap]
rs2239188	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs2283345	0.81[JPT][hapmap]
rs2285830	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs3764014	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3764015	0.81[JPT][hapmap]
rs3764020	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs6580635	0.81[JPT][hapmap]
rs6580636	0.81[JPT][hapmap]
rs7306556	0.81[JPT][hapmap]
rs74088038	0.93[EUR][1000 genomes]
rs74088046	0.85[EUR][1000 genomes]
rs757284	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs7967336	0.81[JPT][hapmap]
rs7967546	0.90[CHD][hapmap];0.81[JPT][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	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	chr12:48038200-48059400	Weak transcription	Small Intestine	intestine
4	chr12:48040600-48086000	Weak transcription	Fetal Brain Male	brain
5	chr12:48042400-48060200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:48043400-48080000	Weak transcription	NHEK	skin
7	chr12:48045200-48059600	Weak transcription	HMEC	breast
8	chr12:48045200-48060200	Weak transcription	Spleen	Spleen
9	chr12:48045200-48079200	Weak transcription	NHLF	lung
10	chr12:48045600-48062200	Weak transcription	Stomach Mucosa	stomach
11	chr12:48046200-48068000	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:48046400-48061200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:48046600-48060000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:48046600-48060000	Weak transcription	Fetal Kidney	kidney
15	chr12:48046600-48083000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:48046600-48087800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:48046600-48090000	Weak transcription	Psoas Muscle	Psoas
18	chr12:48046600-48097000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:48046600-48097600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:48046600-48099200	Weak transcription	Gastric	stomach
21	chr12:48046800-48079200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:48046800-48083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:48046800-48098600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:48046800-48099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:48048000-48061200	Weak transcription	HepG2	liver
26	chr12:48050200-48065800	Weak transcription	Fetal Heart	heart
27	chr12:48050200-48098600	Weak transcription	Pancreas	Pancrea
28	chr12:48051200-48061000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:48051400-48069200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:48051800-48069400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:48052000-48094400	Weak transcription	Aorta	Aorta
32	chr12:48052600-48063200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr12:48052800-48062000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:48052800-48064800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr12:48052800-48065000	Strong transcription	Dnd41	blood
36	chr12:48052800-48065200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:48052800-48065400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:48053000-48063400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:48053000-48068600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:48053200-48062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:48053600-48067000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:48055200-48062800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:48055200-48062800	Strong transcription	NH-A	brain
44	chr12:48055200-48083200	Weak transcription	Brain Germinal Matrix	brain
45	chr12:48055400-48061800	Strong transcription	K562	blood
46	chr12:48055800-48059400	Weak transcription	Fetal Lung	lung
47	chr12:48056000-48062200	Weak transcription	Brain Anterior Caudate	brain
48	chr12:48056000-48073000	Weak transcription	Fetal Brain Female	brain
49	chr12:48056000-48075000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:48056000-48099000	Weak transcription	Right Ventricle	heart

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