Variant report

Variant	rs6989253
Chromosome Location	chr8:121718641-121718642
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11986017	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995748	0.90[YRI][hapmap]
rs12235050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871099	1.00[YRI][hapmap]
rs58720168	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009272	0.85[ASN][1000 genomes]
rs9642852	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9643148	0.93[YRI][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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121706000-121719000	Weak transcription	HSMM	muscle
2	chr8:121706200-121718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:121706200-121718800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:121706200-121719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121711600-121718800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:121711600-121722800	Weak transcription	Aorta	Aorta
7	chr8:121712800-121724400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:121713200-121719000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:121714200-121720400	Enhancers	HepG2	liver
10	chr8:121714600-121718800	Weak transcription	NHLF	lung
11	chr8:121714800-121719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:121714800-121719200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:121714800-121729400	Weak transcription	Right Atrium	heart
14	chr8:121715000-121719200	Enhancers	Primary T cells from cord blood	blood
15	chr8:121715000-121728200	Weak transcription	Psoas Muscle	Psoas
16	chr8:121715200-121718800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:121715200-121719000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr8:121715200-121719200	Weak transcription	Fetal Thymus	thymus
19	chr8:121715400-121718800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:121715600-121719200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:121715800-121718800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr8:121716200-121719000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:121716200-121719400	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:121716200-121726200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121716200-121726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:121716400-121722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:121716800-121722200	Weak transcription	Placenta	Placenta
28	chr8:121717000-121719000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr8:121717000-121720200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:121717200-121719000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:121717400-121719200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr8:121717400-121719400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:121717800-121720200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:121718000-121719800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:121718400-121719600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr8:121718400-121719600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:121718400-121720000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:121718400-121720200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:121718600-121718800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr8:121718600-121718800	Enhancers	Osteobl	bone
41	chr8:121718600-121719400	Flanking Active TSS	HUVEC	blood vessel
42	chr8:121718600-121719800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:121718600-121720200	Enhancers	Liver	Liver

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