Variant report

Variant	rs6987043
Chromosome Location	chr8:48591585-48591586
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	chr8:48583972..48585841-chr8:48591112..48592777,2	K562	blood:
2	chr8:48582961..48585472-chr8:48591112..48593396,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10957549	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10957644	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10958058	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11778548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11784823	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs12544329	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12549996	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12675378	0.87[EUR][1000 genomes]
rs12678110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16928696	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2129618	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2130411	0.83[CEU][hapmap]
rs2130412	0.86[EUR][1000 genomes]
rs2130413	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4489323	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536257	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs4608108	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873368	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs4873395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873399	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873437	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4873507	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873529	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55941013	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56092229	0.90[EUR][1000 genomes]
rs62539116	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62539144	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62539147	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62539150	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982620	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6989917	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014443	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7827571	0.82[CEU][hapmap]
rs876915	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs923499	0.84[EUR][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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:48574800-48595800	Weak transcription	Ovary	ovary
3	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
5	chr8:48576000-48595800	Weak transcription	Gastric	stomach
6	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
7	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
9	chr8:48582200-48594600	Weak transcription	HSMMtube	muscle
10	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:48582800-48592800	Weak transcription	Osteobl	bone
13	chr8:48583000-48594400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:48583600-48592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
17	chr8:48586600-48592800	Weak transcription	Fetal Thymus	thymus
18	chr8:48587200-48592000	Enhancers	Placenta	Placenta
19	chr8:48588400-48591800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:48588800-48594600	Weak transcription	Adipose Nuclei	Adipose
21	chr8:48588800-48594800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:48589200-48593800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:48589400-48594400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:48589400-48594600	Weak transcription	HSMM	muscle
25	chr8:48589400-48594800	Weak transcription	NHLF	lung
26	chr8:48589600-48595800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:48589800-48591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:48589800-48591600	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr8:48589800-48593400	Weak transcription	Esophagus	oesophagus
31	chr8:48589800-48595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:48590200-48591800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:48590400-48592800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:48590600-48591600	Enhancers	Brain Hippocampus Middle	brain
36	chr8:48590600-48625200	Weak transcription	HepG2	liver
37	chr8:48590800-48591800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
39	chr8:48591000-48591800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:48591000-48591800	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:48591000-48591800	Enhancers	Pancreas	Pancrea
42	chr8:48591000-48592000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:48591000-48592200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:48591000-48593000	Enhancers	Lung	lung
45	chr8:48591200-48591600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:48591200-48591600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:48591200-48591600	Weak transcription	Right Atrium	heart
48	chr8:48591200-48592400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr8:48591200-48592600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:48591200-48592600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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