Variant report

Variant	rs56957672
Chromosome Location	chr8:61502195-61502196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61486393..61488900-chr8:61501099..61503900,2	K562	blood:
2	chr8:61491953..61494205-chr8:61500253..61502240,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16926265	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926273	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57207257	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57310966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58443130	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58486252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58847436	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58916286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58933078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	1.00[EUR][1000 genomes]
rs60448147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60730808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60880721	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61277001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61514087	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990951	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003631	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253446	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255451	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255459	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73255485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257447	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257469	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73257492	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259436	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73259441	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259456	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73259486	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261232	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261240	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261257	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839296	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846100	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv870164	chr8:61484657-61529482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv6218	chr8:61485410-61530933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1796952	chr8:61492893-61531418	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
3	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
4	chr8:61474200-61504000	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:61474800-61504000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:61476200-61504800	Weak transcription	NHLF	lung
7	chr8:61476200-61517000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
9	chr8:61481200-61504200	Weak transcription	HMEC	breast
10	chr8:61482800-61504000	Weak transcription	HSMMtube	muscle
11	chr8:61482800-61505800	Weak transcription	Esophagus	oesophagus
12	chr8:61483400-61505800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:61483800-61515800	Weak transcription	Colonic Mucosa	Colon
14	chr8:61485400-61515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:61485800-61504400	Weak transcription	Small Intestine	intestine
16	chr8:61487000-61504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:61489400-61506600	Weak transcription	Fetal Brain Female	brain
18	chr8:61489400-61514000	Weak transcription	Right Ventricle	heart
19	chr8:61489600-61506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:61489600-61510200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:61489800-61504800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:61491000-61505800	Weak transcription	Fetal Heart	heart
23	chr8:61491400-61517000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:61493600-61510400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:61493600-61518000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:61493800-61504400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:61494000-61502400	Strong transcription	Liver	Liver
28	chr8:61494600-61503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:61495000-61505200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:61495600-61516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:61495600-61517000	Weak transcription	Pancreas	Pancrea
32	chr8:61495600-61517200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:61495600-61517600	Weak transcription	Spleen	Spleen
34	chr8:61496200-61502400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:61496400-61502200	Strong transcription	Fetal Muscle Trunk	muscle
36	chr8:61496400-61515400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr8:61496600-61504400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:61496600-61505600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:61496600-61508600	Strong transcription	HSMM	muscle
40	chr8:61496600-61511000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:61496600-61515000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:61496800-61504800	Weak transcription	Fetal Kidney	kidney
43	chr8:61496800-61507000	Strong transcription	NH-A	brain
44	chr8:61496800-61508400	Strong transcription	Fetal Intestine Large	intestine
45	chr8:61496800-61515200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:61496800-61517200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:61497000-61504800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:61497000-61505000	Weak transcription	Brain Substantia Nigra	brain
49	chr8:61497000-61505400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:61497000-61505800	Weak transcription	Brain Hippocampus Middle	brain

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