Variant report

Variant	rs56902031
Chromosome Location	chr8:67957084-67957085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67956271..67959247-chr8:67974283..67976279,3	K562	blood:
2	chr8:67952940..67955434-chr8:67955760..67957321,2	K562	blood:
3	chr8:67949904..67952713-chr8:67954719..67957180,2	K562	blood:
4	chr8:67956943..67960859-chr8:67972864..67975626,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][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]
rs11992626	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466283	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933065	1.00[ASN][1000 genomes]
rs16933071	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933097	1.00[ASN][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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];0.83[ASN][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56041142	1.00[ASN][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56115408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][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];1.00[ASN][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]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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];1.00[ASN][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73691194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802652	chr8:67894007-67964309	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67941200-67957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:67941600-67963000	Weak transcription	Fetal Heart	heart
3	chr8:67946000-67959800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:67948400-67960000	Weak transcription	Gastric	stomach
5	chr8:67949800-67960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:67950400-67957600	Weak transcription	NHEK	skin
7	chr8:67951200-67959400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:67951400-67957600	Weak transcription	Colonic Mucosa	Colon
9	chr8:67951400-67957600	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:67951400-67957600	Weak transcription	HSMMtube	muscle
11	chr8:67951600-67957600	Weak transcription	HUVEC	blood vessel
12	chr8:67951800-67957600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:67951800-67957600	Weak transcription	Fetal Brain Male	brain
14	chr8:67951800-67961400	Weak transcription	Right Ventricle	heart
15	chr8:67952000-67961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:67952200-67957200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:67952200-67960000	Weak transcription	Pancreas	Pancrea
18	chr8:67952400-67973400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:67952600-67957200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:67952600-67972000	Weak transcription	Stomach Mucosa	stomach
21	chr8:67952800-67957600	Weak transcription	K562	blood
22	chr8:67952800-67962600	Weak transcription	Esophagus	oesophagus
23	chr8:67952800-67972000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:67952800-67973600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:67953000-67957600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:67953000-67972800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:67953200-67966600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:67953400-67971600	Strong transcription	Fetal Intestine Large	intestine
29	chr8:67953600-67967000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:67953600-67971400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:67953600-67971600	Strong transcription	Liver	Liver
32	chr8:67953600-67971800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:67953600-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:67953600-67972200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:67953800-67958400	Strong transcription	Primary B cells from cord blood	blood
36	chr8:67953800-67958600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:67953800-67966000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:67953800-67971600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:67953800-67971800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:67953800-67971800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:67953800-67972000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:67953800-67972200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:67953800-67972200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:67953800-67972400	Strong transcription	Placenta	Placenta
45	chr8:67953800-67972800	Strong transcription	Fetal Thymus	thymus
46	chr8:67954000-67965400	Strong transcription	Primary T cells from cord blood	blood
47	chr8:67954000-67971400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:67954000-67971800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:67954000-67972200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr8:67954200-67957600	Weak transcription	Small Intestine	intestine

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