Variant report

Variant	rs4512364
Chromosome Location	chr8:125316907-125316908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125316492..125318934-chr8:125319063..125321541,2	K562	blood:
2	chr8:125309455..125311025-chr8:125315072..125317526,2	K562	blood:
3	chr8:125307762..125311080-chr8:125313612..125318794,4	K562	blood:

Variant related genes	Relation type
ENSG00000271975	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10110968	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs10464864	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12674575	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12674701	0.82[EUR][1000 genomes]
rs4257990	0.87[EUR][1000 genomes]
rs4286934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4421336	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871486	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984232	0.83[EUR][1000 genomes]
rs6985308	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6991465	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6993858	0.85[EUR][1000 genomes]
rs6997326	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002456	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7010910	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7386298	0.85[EUR][1000 genomes]
rs7819902	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7832694	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125301400-125329800	Weak transcription	HSMMtube	muscle
2	chr8:125304600-125317800	Weak transcription	Fetal Heart	heart
3	chr8:125306200-125328000	Weak transcription	A549	lung
4	chr8:125309400-125331000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:125311200-125333600	Weak transcription	Right Ventricle	heart
6	chr8:125312000-125320200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:125312000-125323800	Weak transcription	Aorta	Aorta
8	chr8:125312000-125330800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:125312400-125319400	Weak transcription	Primary T cells from cord blood	blood
10	chr8:125312400-125331000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:125312600-125326000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:125312600-125328000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:125312600-125329800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:125312600-125329800	Weak transcription	Thymus	Thymus
15	chr8:125312600-125330000	Weak transcription	Fetal Stomach	stomach
16	chr8:125312600-125333000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:125312600-125346000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:125312800-125319200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:125312800-125323600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:125312800-125329800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:125312800-125329800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:125312800-125331600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:125312800-125337800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:125313400-125329800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:125314000-125320200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:125314000-125326200	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:125314000-125330000	Weak transcription	Left Ventricle	heart
28	chr8:125314200-125330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:125314200-125332000	Weak transcription	Fetal Intestine Small	intestine
30	chr8:125314200-125340200	Weak transcription	Placenta	Placenta
31	chr8:125315800-125333000	Weak transcription	NH-A	brain
32	chr8:125316400-125317000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:125316400-125333800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:125316600-125323600	Weak transcription	HSMM	muscle
35	chr8:125316600-125329800	Weak transcription	Ovary	ovary
36	chr8:125316600-125333600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:125316800-125319400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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