Variant report

Variant	rs73693106
Chromosome Location	chr8:67988567-67988568
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	chr8:67981900..67985386-chr8:67987036..67990372,4	K562	blood:
2	chr8:67981584..67984987-chr8:67987255..67990503,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992626	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466283	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933071	0.84[EUR][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377622	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56717011	0.84[EUR][1000 genomes]
rs56902031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004549	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693129	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7816746	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831052	0.84[EUR][1000 genomes]

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	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977600-67989400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:67977600-67989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:67977600-67998200	Weak transcription	Gastric	stomach
4	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:67978000-67989400	Weak transcription	Small Intestine	intestine
10	chr8:67978000-67995400	Weak transcription	Colonic Mucosa	Colon
11	chr8:67978000-67996800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:67978200-67989000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:67978200-67990600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:67978200-67992000	Weak transcription	Aorta	Aorta
16	chr8:67978200-67992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
19	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
20	chr8:67978400-67989400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:67978400-67989800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
23	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:67978600-67990600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:67978600-67992200	Weak transcription	Osteobl	bone
26	chr8:67978600-67998000	Weak transcription	NHEK	skin
27	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
28	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
30	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
31	chr8:67978800-67989000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:67978800-67989400	Weak transcription	Right Ventricle	heart
33	chr8:67978800-67989600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:67978800-67990000	Weak transcription	NHDF-Ad	bronchial
35	chr8:67978800-67990600	Weak transcription	Fetal Thymus	thymus
36	chr8:67978800-67992600	Weak transcription	HSMMtube	muscle
37	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
39	chr8:67981200-67990800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:67981600-67990400	Weak transcription	NHLF	lung
41	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:67986200-67993200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:67986400-67993600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:67986600-67992200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:67986600-67993200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:67986600-67993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:67986600-67995200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:67986800-67993400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr8:67987000-67990600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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