Variant report

Variant	rs6997783
Chromosome Location	chr8:121570655-121570656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121570203..121571845-chr8:121572153..121574124,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10955974	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36043164	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4242315	0.91[CEU][hapmap];0.82[CHB][hapmap];0.91[MEX][hapmap]
rs4297067	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4451342	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4480161	0.91[CEU][hapmap];0.82[CHB][hapmap]
rs4870734	0.82[CHB][hapmap]
rs4871070	1.00[CEU][hapmap]
rs6981480	0.91[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap]
rs7009902	0.81[CHB][hapmap]
rs7015089	0.91[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap]
rs7823782	0.86[MEX][hapmap]
rs7834651	0.81[AMR][1000 genomes]
rs7843835	0.86[MEX][hapmap]

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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121527800-121581600	Weak transcription	Spleen	Spleen
2	chr8:121536400-121574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:121553200-121574200	Weak transcription	Psoas Muscle	Psoas
4	chr8:121553200-121574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:121556200-121586400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:121557800-121597400	Weak transcription	Osteobl	bone
7	chr8:121558200-121574400	Weak transcription	NHDF-Ad	bronchial
8	chr8:121560400-121586800	Weak transcription	Fetal Stomach	stomach
9	chr8:121560600-121597000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:121561000-121591600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:121561200-121574400	Weak transcription	HSMM	muscle
12	chr8:121561200-121582600	Weak transcription	Fetal Intestine Large	intestine
13	chr8:121561200-121585200	Weak transcription	Fetal Kidney	kidney
14	chr8:121561200-121586000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:121561200-121586400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121561200-121586800	Weak transcription	Gastric	stomach
17	chr8:121561200-121586800	Weak transcription	Lung	lung
18	chr8:121561200-121596400	Weak transcription	Pancreas	Pancrea
19	chr8:121561400-121572000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:121561400-121581600	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:121561400-121582600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:121561400-121583000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:121561400-121585400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:121561400-121586000	Weak transcription	NHLF	lung
25	chr8:121561400-121586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:121561800-121583000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:121561800-121585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:121562200-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:121565000-121571600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr8:121565200-121570800	Strong transcription	HepG2	liver
31	chr8:121568400-121586400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:121568600-121582600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:121568600-121582600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:121568600-121585400	Weak transcription	Primary B cells from cord blood	blood
35	chr8:121568600-121586200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:121568600-121586800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:121569800-121582400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:121569800-121586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:121570000-121571200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:121570000-121571200	Weak transcription	Brain Germinal Matrix	brain
41	chr8:121570000-121571400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:121570000-121572800	Weak transcription	HSMMtube	muscle
43	chr8:121570000-121579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:121570000-121580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:121570200-121582800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:121570200-121582800	Weak transcription	Liver	Liver
47	chr8:121570200-121584400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:121570200-121585200	Weak transcription	Primary T cells from cord blood	blood
49	chr8:121570600-121574000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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