Variant report

Variant	rs11948037
Chromosome Location	chr5:95261510-95261511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95257637..95262263-chr5:95295485..95300660,6	K562	blood:
2	chr5:95228710..95230436-chr5:95260445..95262150,2	K562	blood:
3	chr5:95260360..95261946-chr5:95297991..95299734,2	K562	blood:
4	chr5:95228710..95230634-chr5:95260424..95262150,2	K562	blood:
5	chr5:95259027..95261912-chr5:95403568..95405178,2	K562	blood:
6	chr5:95232218..95234348-chr5:95259684..95262327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10428657	0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10428702	0.85[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes]
rs10515231	1.00[JPT][hapmap]
rs10515233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10515234	1.00[EUR][1000 genomes]
rs12514472	0.84[AMR][1000 genomes]
rs12514954	0.82[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515492	1.00[JPT][hapmap]
rs12517786	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12522489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12523306	1.00[EUR][1000 genomes]
rs17085220	1.00[EUR][1000 genomes]
rs17085223	1.00[EUR][1000 genomes]
rs17085224	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17085227	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17085243	1.00[CHB][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17085339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085366	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085373	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17085393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085426	1.00[EUR][1000 genomes]
rs2161317	1.00[JPT][hapmap]
rs28521883	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3756701	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3777174	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[MKK][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777177	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777180	1.00[EUR][1000 genomes]
rs41276261	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55763081	1.00[EUR][1000 genomes]
rs56776515	1.00[EUR][1000 genomes]
rs58389685	1.00[EUR][1000 genomes]
rs60908902	1.00[EUR][1000 genomes]
rs61268106	1.00[EUR][1000 genomes]
rs6143071	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6556897	1.00[EUR][1000 genomes]
rs6861075	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6870388	1.00[EUR][1000 genomes]
rs6872006	1.00[EUR][1000 genomes]
rs6874371	1.00[EUR][1000 genomes]
rs6891082	1.00[EUR][1000 genomes]
rs6891633	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6893788	1.00[EUR][1000 genomes]
rs73771827	1.00[EUR][1000 genomes]
rs7700606	1.00[EUR][1000 genomes]
rs7724475	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7736480	1.00[EUR][1000 genomes]
rs9687631	1.00[EUR][1000 genomes]
rs977128	1.00[EUR][1000 genomes]
rs977129	1.00[EUR][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	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv3371299	chr5:95261096-95265494	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95226400-95263600	Weak transcription	Colonic Mucosa	Colon
2	chr5:95236400-95276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95238200-95282000	Weak transcription	HUVEC	blood vessel
4	chr5:95243400-95278800	Weak transcription	Lung	lung
5	chr5:95243600-95274200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:95246400-95266400	Weak transcription	NHDF-Ad	bronchial
7	chr5:95249800-95271600	Weak transcription	NH-A	brain
8	chr5:95250600-95263000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:95251200-95261800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:95252200-95263800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:95252200-95272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:95252400-95264600	Weak transcription	Ovary	ovary
13	chr5:95252400-95266400	Weak transcription	HSMMtube	muscle
14	chr5:95253400-95262600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:95253800-95272400	Weak transcription	Placenta	Placenta
16	chr5:95254600-95266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:95256200-95263000	Genic enhancers	NHEK	skin
18	chr5:95256600-95261600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:95257400-95266400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:95257400-95276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:95258600-95261600	Enhancers	Fetal Intestine Large	intestine
22	chr5:95258600-95262000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:95258600-95262000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:95258600-95262200	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:95258600-95262400	Enhancers	Brain Substantia Nigra	brain
26	chr5:95258800-95262800	Enhancers	Brain Hippocampus Middle	brain
27	chr5:95259000-95261800	Enhancers	Adipose Nuclei	Adipose
28	chr5:95259000-95262000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:95259000-95262200	Enhancers	Brain Angular Gyrus	brain
30	chr5:95259000-95262600	Enhancers	Primary B cells from cord blood	blood
31	chr5:95259000-95264000	Enhancers	Dnd41	blood
32	chr5:95259000-95264600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:95259200-95261600	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:95259200-95261800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:95259400-95261600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:95259400-95263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:95259400-95264600	Weak transcription	Gastric	stomach
38	chr5:95259400-95264800	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:95259400-95266800	Weak transcription	Aorta	Aorta
40	chr5:95259400-95271400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:95259400-95271400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:95259400-95273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:95259400-95274600	Weak transcription	Psoas Muscle	Psoas
44	chr5:95259600-95261600	Enhancers	Fetal Thymus	thymus
45	chr5:95259600-95262200	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:95259800-95261600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:95259800-95270000	Weak transcription	Right Ventricle	heart
48	chr5:95260000-95261600	Enhancers	HMEC	breast
49	chr5:95260000-95264600	Weak transcription	Pancreas	Pancrea
50	chr5:95260000-95264600	Weak transcription	Right Atrium	heart

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