Variant report

Variant	rs6479424
Chromosome Location	chr9:95297077-95297078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95289634..95294322-chr9:95294432..95297818,7	K562	blood:

Variant related genes	Relation type
ENSG00000264158	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10115937	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10120210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10120292	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10435919	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992439	0.83[CEU][hapmap]
rs1111047	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1536423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap]
rs2007245	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2131918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2296668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4744142	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6479427	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7043114	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7864757	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7873646	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs912260	0.92[CEU][hapmap]
rs9886781	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9969804	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1052846	chr9:95291909-95366109	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:95294800-95301200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:95296000-95301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:95296400-95297200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:95296400-95297400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:95296400-95297400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:95296400-95297400	Flanking Active TSS	GM12878-XiMat	blood
8	chr9:95296400-95297600	Active TSS	Brain Substantia Nigra	brain
9	chr9:95296400-95297600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr9:95296400-95297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:95296400-95299600	Enhancers	HepG2	liver
12	chr9:95296600-95297200	Active TSS	Brain Angular Gyrus	brain
13	chr9:95296600-95297400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr9:95296600-95297400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr9:95296600-95297800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:95296600-95298800	Active TSS	Stomach Smooth Muscle	stomach
17	chr9:95296600-95299000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr9:95296800-95297200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:95296800-95297200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:95296800-95297200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:95296800-95297200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr9:95296800-95297200	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr9:95296800-95297200	Active TSS	Fetal Intestine Large	intestine
24	chr9:95296800-95297400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:95296800-95297400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr9:95296800-95297400	Flanking Active TSS	Liver	Liver
27	chr9:95296800-95297400	Flanking Active TSS	Fetal Lung	lung
28	chr9:95296800-95297400	Flanking Active TSS	Ovary	ovary
29	chr9:95296800-95297400	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr9:95296800-95297600	Flanking Active TSS	NHDF-Ad	bronchial
31	chr9:95296800-95297600	Flanking Active TSS	Osteobl	bone
32	chr9:95296800-95298000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:95296800-95298800	Active TSS	Rectal Smooth Muscle	rectum
34	chr9:95297000-95297200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:95297000-95297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:95297000-95297200	Active TSS	Left Ventricle	heart
37	chr9:95297000-95297400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:95297000-95297400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr9:95297000-95297400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:95297000-95297400	Flanking Active TSS	Aorta	Aorta
41	chr9:95297000-95297400	Enhancers	Brain Anterior Caudate	brain
42	chr9:95297000-95297400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:95297000-95297400	Active TSS	Fetal Brain Male	brain
44	chr9:95297000-95297400	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr9:95297000-95297400	Flanking Active TSS	Fetal Kidney	kidney
46	chr9:95297000-95297400	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr9:95297000-95297400	Enhancers	Pancreas	Pancrea
48	chr9:95297000-95297400	Flanking Active TSS	Psoas Muscle	Psoas
49	chr9:95297000-95297400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr9:95297000-95297400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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