Variant report

Variant	rs6176
Chromosome Location	chr5:42719082-42719083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42710379..42715980-chr5:42716772..42720517,5	K562	blood:
2	chr5:42714480..42717427-chr5:42718299..42720344,4	K562	blood:
3	chr5:42718003..42720870-chr5:43094182..43097027,2	K562	blood:

Variant related genes	Relation type
ENSG00000112964	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10512806	0.82[ASN][1000 genomes]
rs10805665	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10941590	1.00[JPT][hapmap]
rs11749941	0.82[ASN][1000 genomes]
rs13153784	1.00[JPT][hapmap]
rs13154178	1.00[JPT][hapmap]
rs35291899	0.91[EUR][1000 genomes]
rs4146624	1.00[CEU][hapmap]
rs57062650	0.82[ASN][1000 genomes]
rs60268063	0.82[ASN][1000 genomes]
rs6875431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889182	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72552397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
2	chr5:42706000-42720400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:42708800-42722800	Strong transcription	Liver	Liver
4	chr5:42714200-42721200	Weak transcription	Psoas Muscle	Psoas
5	chr5:42716600-42722000	Weak transcription	HSMMtube	muscle
6	chr5:42717400-42720600	Weak transcription	Fetal Kidney	kidney
7	chr5:42718000-42720400	Weak transcription	Brain Substantia Nigra	brain
8	chr5:42718000-42721000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:42718400-42719800	Enhancers	Osteobl	bone
10	chr5:42718400-42722400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:42718400-42722400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:42718600-42719200	Enhancers	NHDF-Ad	bronchial
13	chr5:42718600-42719200	Enhancers	NHEK	skin
14	chr5:42718600-42719400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:42718600-42719400	Enhancers	Primary B cells from peripheral blood	blood
16	chr5:42718600-42719400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr5:42718600-42719400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:42718600-42719400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:42718600-42719400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:42718600-42719400	Strong transcription	Fetal Intestine Large	intestine
21	chr5:42718600-42719600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:42718600-42719600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:42718600-42719600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr5:42718600-42719600	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:42718600-42719600	Strong transcription	Ovary	ovary
26	chr5:42718600-42719600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:42718600-42719600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr5:42718600-42719600	Enhancers	HMEC	breast
29	chr5:42718600-42719600	Enhancers	HSMM	muscle
30	chr5:42718600-42719600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:42718600-42719600	Enhancers	NH-A	brain
32	chr5:42718600-42719800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:42718600-42719800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr5:42718600-42719800	Enhancers	Primary hematopoietic stem cells	blood
35	chr5:42718600-42719800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr5:42718600-42719800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr5:42718600-42719800	Strong transcription	Aorta	Aorta
38	chr5:42718600-42719800	Strong transcription	Fetal Lung	lung
39	chr5:42718600-42719800	Strong transcription	Left Ventricle	heart
40	chr5:42718600-42720400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:42718600-42720800	Strong transcription	Adipose Nuclei	Adipose
42	chr5:42718600-42721000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr5:42718600-42721200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:42718600-42721800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:42718800-42719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:42718800-42719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr5:42718800-42719200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:42718800-42719200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:42718800-42719200	Flanking Active TSS	GM12878-XiMat	blood
50	chr5:42718800-42719400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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