Variant report

Variant	rs6991020
Chromosome Location	chr8:59505378-59505379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:
2	chr8:59503947..59506105-chr8:59507137..59508940,2	K562	blood:
3	chr8:59501580..59503825-chr8:59505050..59507030,2	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10104292	0.84[EUR][1000 genomes]
rs10111180	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10504256	0.84[EUR][1000 genomes]
rs12674724	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677290	0.85[EUR][1000 genomes]
rs12679938	0.83[EUR][1000 genomes]
rs16923588	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16923594	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17272151	0.82[EUR][1000 genomes]
rs2130072	0.80[EUR][1000 genomes]
rs2255834	0.85[ASN][1000 genomes]
rs2279460	0.81[EUR][1000 genomes]
rs2279462	0.80[EUR][1000 genomes]
rs2326129	0.90[ASN][1000 genomes]
rs2634488	0.87[ASN][1000 genomes]
rs2634530	0.85[ASN][1000 genomes]
rs2634531	0.86[ASN][1000 genomes]
rs2634534	0.82[ASN][1000 genomes]
rs2680897	0.83[ASN][1000 genomes]
rs2680899	0.83[ASN][1000 genomes]
rs2680901	0.83[ASN][1000 genomes]
rs28711402	0.82[EUR][1000 genomes]
rs2946578	0.83[ASN][1000 genomes]
rs4400366	0.84[EUR][1000 genomes]
rs4579515	0.84[EUR][1000 genomes]
rs6995115	0.85[EUR][1000 genomes]
rs72647437	0.82[EUR][1000 genomes]
rs72647443	0.84[EUR][1000 genomes]
rs7826122	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7826603	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7840932	0.85[EUR][1000 genomes]
rs7844231	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs901954	0.83[ASN][1000 genomes]
rs9297996	0.84[EUR][1000 genomes]
rs9297998	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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
14	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:59483800-59528000	Strong transcription	Dnd41	blood
19	chr8:59484000-59505600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:59484800-59505600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:59494000-59507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:59494400-59506400	Weak transcription	Colonic Mucosa	Colon
23	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
24	chr8:59495800-59506400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:59496000-59507000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:59496000-59507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:59496800-59507800	Weak transcription	Small Intestine	intestine
28	chr8:59498200-59507400	Strong transcription	Placenta	Placenta
29	chr8:59498600-59505600	Weak transcription	Psoas Muscle	Psoas
30	chr8:59498600-59506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:59498600-59507000	Weak transcription	Fetal Kidney	kidney
32	chr8:59498600-59511200	Weak transcription	Right Ventricle	heart
33	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
35	chr8:59498800-59507000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:59499200-59506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:59499200-59506400	Weak transcription	NHEK	skin
38	chr8:59499800-59506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:59500000-59506600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:59500200-59506200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:59500200-59524600	Weak transcription	HepG2	liver
42	chr8:59500400-59506400	Weak transcription	Lung	lung
43	chr8:59500400-59506400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:59500600-59505600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:59500600-59506000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:59500600-59506000	Weak transcription	Brain Substantia Nigra	brain
47	chr8:59500600-59506200	Weak transcription	Brain Angular Gyrus	brain
48	chr8:59500600-59506200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:59500600-59506200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:59500600-59506400	Weak transcription	Aorta	Aorta

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