Variant report

Variant	rs58585963
Chromosome Location	chr8:126321393-126321394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126318394..126322454-chr8:126322882..126325184,6	K562	blood:
2	chr8:126233282..126235149-chr8:126318935..126321777,2	MCF-7	breast:
3	chr8:126320818..126322361-chr8:126441952..126443721,2	K562	blood:
4	chr8:126316293..126317813-chr8:126318662..126321423,2	K562	blood:
5	chr8:126318103..126323029-chr8:126440904..126443721,4	K562	blood:
6	chr8:126318641..126321559-chr8:126341791..126343679,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10087220	1.00[EUR][1000 genomes]
rs10088674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10090983	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093674	1.00[EUR][1000 genomes]
rs10094940	1.00[AMR][1000 genomes]
rs10096127	1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	1.00[EUR][1000 genomes]
rs10100523	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101223	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104088	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105662	1.00[AMR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10106819	1.00[EUR][1000 genomes]
rs10106935	1.00[EUR][1000 genomes]
rs10106950	1.00[EUR][1000 genomes]
rs10107935	1.00[EUR][1000 genomes]
rs10108634	1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111261	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10111919	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10481079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481153	1.00[EUR][1000 genomes]
rs10481154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985468	1.00[EUR][1000 genomes]
rs11988647	1.00[EUR][1000 genomes]
rs11990560	1.00[EUR][1000 genomes]
rs11994181	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	1.00[AMR][1000 genomes]
rs11998130	1.00[EUR][1000 genomes]
rs11998251	1.00[EUR][1000 genomes]
rs13439074	1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	1.00[EUR][1000 genomes]
rs28412398	1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28481333	1.00[EUR][1000 genomes]
rs28502126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28516407	1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28617180	1.00[EUR][1000 genomes]
rs28620783	1.00[AMR][1000 genomes]
rs28629877	1.00[EUR][1000 genomes]
rs28676821	1.00[EUR][1000 genomes]
rs28702877	1.00[EUR][1000 genomes]
rs28786389	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56704677	1.00[AMR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	1.00[EUR][1000 genomes]
rs73704568	1.00[EUR][1000 genomes]
rs73704912	1.00[EUR][1000 genomes]
rs73704916	1.00[EUR][1000 genomes]
rs73704922	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704933	0.85[AFR][1000 genomes]
rs73704935	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704952	1.00[AMR][1000 genomes]
rs7826327	1.00[EUR][1000 genomes]
rs7844941	1.00[EUR][1000 genomes]
rs9297715	1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:126308000-126336000	Weak transcription	Psoas Muscle	Psoas
4	chr8:126313600-126321600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:126314400-126321600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:126315400-126325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:126316000-126325000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:126316200-126322200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:126318400-126322600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:126318600-126354600	Weak transcription	Ovary	ovary
11	chr8:126319000-126322200	Enhancers	Osteobl	bone
12	chr8:126319000-126322400	Enhancers	NHDF-Ad	bronchial
13	chr8:126319200-126321800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:126319200-126321800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:126319200-126322200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:126319200-126322600	Enhancers	Placenta	Placenta
17	chr8:126319400-126322000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:126319400-126322000	Enhancers	Fetal Thymus	thymus
19	chr8:126319400-126323200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:126319400-126323800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:126319400-126325200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:126319600-126322000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr8:126319600-126323600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:126319800-126321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:126319800-126321800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:126319800-126324000	Enhancers	NHLF	lung
27	chr8:126319800-126324600	Enhancers	K562	blood
28	chr8:126320000-126321600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:126320000-126321600	Weak transcription	NH-A	brain
30	chr8:126320000-126321600	Weak transcription	NHEK	skin
31	chr8:126320000-126321800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:126320000-126323400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:126320000-126328200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:126320200-126321400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:126320200-126321600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:126320200-126321800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:126320200-126322000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:126320200-126322000	Weak transcription	Primary T cells from cord blood	blood
39	chr8:126320200-126322400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:126320200-126323200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:126320200-126328800	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:126320400-126321600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:126320400-126321600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:126320400-126321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:126320400-126321600	Weak transcription	Small Intestine	intestine
46	chr8:126320400-126321800	Weak transcription	Fetal Lung	lung
47	chr8:126320400-126321800	Weak transcription	Right Atrium	heart
48	chr8:126320400-126321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:126320400-126322200	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:126320400-126323200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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