Variant report

Variant	rs729797
Chromosome Location	chr8:126582521-126582522
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126578692..126581017-chr8:126581136..126583682,2	K562	blood:
2	chr8:126565664..126567400-chr8:126579554..126582844,3	MCF-7	breast:
3	chr8:126579931..126585815-chr8:126586527..126590543,9	MCF-7	breast:
4	chr8:126570042..126574536-chr8:126578331..126584724,7	MCF-7	breast:
5	chr8:126442845..126445477-chr8:126580285..126582930,2	MCF-7	breast:
6	chr8:126441746..126446233-chr8:126582172..126585643,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10086276	0.85[CEU][hapmap]
rs10086636	0.84[CEU][hapmap]
rs10094725	0.83[CEU][hapmap]
rs10111011	0.85[CEU][hapmap]
rs1031497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1031498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12543922	0.83[CEU][hapmap]
rs1454616	0.81[CEU][hapmap]
rs1454619	0.80[CEU][hapmap]
rs1963945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870946	0.84[CEU][hapmap]
rs4871618	0.84[CEU][hapmap]
rs4871619	0.85[CEU][hapmap]
rs4871621	0.82[CEU][hapmap]
rs6981560	0.84[CEU][hapmap]
rs6986030	0.85[CEU][hapmap]
rs6986139	0.85[CEU][hapmap]
rs6986305	0.84[CEU][hapmap]
rs7008590	0.88[CEU][hapmap]
rs7012936	0.81[CEU][hapmap]
rs897158	0.85[CEU][hapmap]
rs897161	0.85[CEU][hapmap]
rs9297718	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126569800-126588200	Weak transcription	Spleen	Spleen
2	chr8:126578800-126583800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:126578800-126586600	Weak transcription	Liver	Liver
4	chr8:126579800-126583000	Enhancers	Fetal Lung	lung
5	chr8:126580000-126583000	Enhancers	Stomach Smooth Muscle	stomach
6	chr8:126580200-126582800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:126580200-126583000	Enhancers	Fetal Muscle Leg	muscle
8	chr8:126580200-126583000	Enhancers	Fetal Stomach	stomach
9	chr8:126580400-126582600	Enhancers	Right Atrium	heart
10	chr8:126580400-126582800	Enhancers	Ovary	ovary
11	chr8:126580400-126583000	Enhancers	Colonic Mucosa	Colon
12	chr8:126581000-126583000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:126581000-126583800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:126581200-126583000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:126581200-126583000	Enhancers	HMEC	breast
16	chr8:126581400-126582800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:126581400-126582800	Enhancers	Esophagus	oesophagus
18	chr8:126581400-126583000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:126581400-126583000	Enhancers	NHEK	skin
20	chr8:126581600-126582600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:126581600-126582600	Enhancers	Right Ventricle	heart
22	chr8:126581600-126582800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:126581600-126582800	Enhancers	Left Ventricle	heart
24	chr8:126581600-126583000	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:126581600-126586000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:126581600-126586800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:126581600-126590800	Weak transcription	Lung	lung
28	chr8:126581800-126582600	Enhancers	Placenta	Placenta
29	chr8:126581800-126582600	Enhancers	NH-A	brain
30	chr8:126581800-126582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:126581800-126582800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:126581800-126582800	Enhancers	Brain Angular Gyrus	brain
33	chr8:126581800-126582800	Enhancers	Fetal Thymus	thymus
34	chr8:126581800-126582800	Flanking Active TSS	Osteobl	bone
35	chr8:126581800-126583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:126582000-126582600	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:126582000-126582800	Enhancers	Fetal Kidney	kidney
38	chr8:126582000-126583000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:126582000-126588200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:126582200-126582600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:126582200-126582600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr8:126582200-126582600	Enhancers	Aorta	Aorta
43	chr8:126582200-126582600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr8:126582200-126582600	Enhancers	Brain Substantia Nigra	brain
45	chr8:126582200-126582600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr8:126582200-126582600	Flanking Active TSS	NHLF	lung
47	chr8:126582200-126582800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:126582200-126582800	Enhancers	Brain Anterior Caudate	brain
49	chr8:126582200-126582800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:126582400-126582800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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