Variant report

Variant	rs7004385
Chromosome Location	chr8:121691048-121691049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4369031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387018	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532637	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4870746	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4871094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5003013	0.86[YRI][hapmap]
rs59425705	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59526603	0.89[ASN][1000 genomes]
rs6469946	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6469947	0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs66486105	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559448	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985322	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7005038	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs72682538	0.89[ASN][1000 genomes]
rs72682539	0.89[ASN][1000 genomes]
rs72682541	0.86[ASN][1000 genomes]
rs72682542	0.86[ASN][1000 genomes]
rs7814101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835099	0.97[EUR][1000 genomes]
rs7841636	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv6369	chr8:121654665-121699920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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	chr8:121672600-121699600	Weak transcription	HSMM	muscle
2	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
3	chr8:121680600-121697600	Weak transcription	Gastric	stomach
4	chr8:121680600-121704600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:121680800-121701000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:121681400-121704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:121681600-121699600	Weak transcription	Osteobl	bone
8	chr8:121681600-121701000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121682200-121700400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:121682800-121698000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:121685400-121697200	Weak transcription	Lung	lung
12	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
13	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:121686200-121697200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:121686200-121697600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:121686600-121704400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:121686800-121695800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:121686800-121696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:121686800-121697200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
21	chr8:121687000-121697600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:121687000-121704200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:121688200-121699600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:121688200-121699600	Weak transcription	NHLF	lung
25	chr8:121688200-121701000	Weak transcription	Psoas Muscle	Psoas
26	chr8:121689800-121691800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:121690000-121691400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:121690000-121691600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:121690200-121691200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:121690200-121706600	Strong transcription	HepG2	liver
31	chr8:121690400-121691200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:121690400-121691400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr8:121690600-121691200	Enhancers	Liver	Liver
34	chr8:121690600-121691200	Enhancers	Fetal Muscle Leg	muscle
35	chr8:121690600-121691400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:121690600-121699200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:121690800-121695600	Weak transcription	Primary T cells from cord blood	blood
38	chr8:121690800-121697200	Weak transcription	Fetal Stomach	stomach
39	chr8:121690800-121699600	Weak transcription	HSMMtube	muscle
40	chr8:121691000-121691200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:121691000-121691400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr8:121691000-121691400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:121691000-121696200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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