Variant report

Variant	rs6986718
Chromosome Location	chr8:121635396-121635397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121628159..121631762-chr8:121633780..121636360,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10093840	1.00[CEU][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes]
rs10111936	0.88[CEU][hapmap]
rs12675712	0.90[TSI][hapmap]
rs4409432	0.82[TSI][hapmap]
rs4433191	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4475531	0.90[TSI][hapmap]
rs4510903	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[EUR][1000 genomes]
rs4870736	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5019650	1.00[EUR][1000 genomes]
rs57160393	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469938	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs6996625	1.00[CEU][hapmap];1.00[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	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	nsv612113	chr8:121616345-121635396	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder and schizophrenia	20889312	GWAS catalog

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:121605800-121644400	Weak transcription	Gastric	stomach
5	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121609600-121641000	Weak transcription	Lung	lung
7	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
8	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:121616000-121637200	Weak transcription	HSMM	muscle
10	chr8:121616600-121639000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:121618400-121637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:121621800-121644400	Weak transcription	Spleen	Spleen
13	chr8:121623400-121637400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:121623400-121647600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:121624400-121637200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:121625000-121642200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:121625000-121643600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:121625400-121636600	Strong transcription	HepG2	liver
19	chr8:121625600-121645400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:121627000-121640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:121627600-121637200	Weak transcription	HSMMtube	muscle
22	chr8:121627800-121637400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:121628400-121639600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:121629200-121643600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr8:121629400-121642600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:121629400-121645200	Weak transcription	Fetal Stomach	stomach
28	chr8:121629600-121637000	Weak transcription	NHLF	lung
29	chr8:121630000-121641000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:121630200-121635400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:121630200-121637800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:121630400-121636200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:121631800-121635400	Enhancers	Adipose Nuclei	Adipose
34	chr8:121632800-121641200	Weak transcription	Esophagus	oesophagus
35	chr8:121633000-121636400	Weak transcription	Liver	Liver
36	chr8:121633400-121635400	Enhancers	NHDF-Ad	bronchial
37	chr8:121633400-121640600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:121633400-121645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:121633600-121654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:121634000-121635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:121634400-121635400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:121634800-121635400	Enhancers	Fetal Muscle Leg	muscle
43	chr8:121634800-121636000	Enhancers	Left Ventricle	heart
44	chr8:121634800-121637200	Weak transcription	Osteobl	bone
45	chr8:121635000-121635400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:121635000-121635400	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:121635000-121635400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:121635000-121635800	Enhancers	Right Atrium	heart
49	chr8:121635000-121635800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:121635000-121635800	Enhancers	Skeletal Muscle Female	skeletal muscle

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