Variant report

Variant	rs2059537
Chromosome Location	chr8:6569022-6569023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr8:6568941-6569589	GM12878	blood:	n/a	n/a
2	CTCF	chr8:6569020-6569170	WI-38	lung:	n/a	n/a
3	POLR2A	chr8:6568944-6569781	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:6569012-6569706	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:6568993-6569692	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:6568996-6569701	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:6568938-6569741	GM12891	blood:	n/a	n/a
8	POLR2A	chr8:6569006-6570514	GM12878	blood:	n/a	n/a
9	CHD1	chr8:6568768-6569665	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:6568729-6570995	K562	blood:	n/a	n/a
11	POLR2A	chr8:6563320-6569676	GM12878	blood:	n/a	n/a
12	CTCF	chr8:6569020-6569170	BE2_C	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6436717..6439551-chr8:6568562..6570372,2	K562	blood:
2	chr8:6568779..6571640-chr8:6612352..6615052,2	K562	blood:
3	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
4	chr8:6567182..6570049-chr8:6639193..6642155,2	K562	blood:
5	chr8:6567796..6570649-chr8:6571999..6573620,2	MCF-7	breast:
6	chr8:6566127..6567719-chr8:6567904..6569806,2	MCF-7	breast:
7	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
8	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
9	chr8:6567971..6570094-chr8:6598474..6600229,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249898	TF binding region
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10454358	1.00[EUR][1000 genomes]
rs10503366	1.00[EUR][1000 genomes]
rs10503367	1.00[EUR][1000 genomes]
rs10503369	1.00[EUR][1000 genomes]
rs11137064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545527	1.00[EUR][1000 genomes]
rs1425784	0.98[ASN][1000 genomes]
rs1425785	0.98[ASN][1000 genomes]
rs1425786	0.98[ASN][1000 genomes]
rs1469269	1.00[EUR][1000 genomes]
rs1469270	1.00[EUR][1000 genomes]
rs1559747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17077966	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17078011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17078066	1.00[EUR][1000 genomes]
rs1834450	0.98[ASN][1000 genomes]
rs1978547	0.98[ASN][1000 genomes]
rs2114060	0.98[ASN][1000 genomes]
rs2162152	0.98[ASN][1000 genomes]
rs2272772	1.00[EUR][1000 genomes]
rs2277135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28373026	1.00[EUR][1000 genomes]
rs28478952	0.81[ASN][1000 genomes]
rs2911986	0.93[ASN][1000 genomes]
rs2911988	0.98[ASN][1000 genomes]
rs2911990	0.93[ASN][1000 genomes]
rs2912083	0.98[ASN][1000 genomes]
rs2928583	1.00[EUR][1000 genomes]
rs2928612	0.93[ASN][1000 genomes]
rs2928614	0.98[ASN][1000 genomes]
rs2928616	0.98[ASN][1000 genomes]
rs3780084	1.00[EUR][1000 genomes]
rs3780085	1.00[EUR][1000 genomes]
rs3811118	1.00[EUR][1000 genomes]
rs3811120	1.00[EUR][1000 genomes]
rs4840574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4841551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841594	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4841654	1.00[EUR][1000 genomes]
rs4841729	1.00[EUR][1000 genomes]
rs4841730	1.00[EUR][1000 genomes]
rs58725842	1.00[EUR][1000 genomes]
rs59366445	1.00[EUR][1000 genomes]
rs59623151	1.00[EUR][1000 genomes]
rs60834832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61622585	1.00[EUR][1000 genomes]
rs6988650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6989392	1.00[EUR][1000 genomes]
rs6996843	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6996864	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6997196	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7003121	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7016859	1.00[EUR][1000 genomes]
rs7017416	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7813375	0.98[ASN][1000 genomes]
rs7825937	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830779	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830784	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7845315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs968118	1.00[EUR][1000 genomes]
rs9773764	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv465436	chr8:6568201-6921404	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv610006	chr8:6568201-6921404	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6566800-6575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:6566800-6575800	Weak transcription	Spleen	Spleen
3	chr8:6567000-6569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:6567000-6569200	Weak transcription	Esophagus	oesophagus
5	chr8:6567000-6569200	Weak transcription	Lung	lung
6	chr8:6567000-6571000	Weak transcription	Small Intestine	intestine
7	chr8:6567000-6575600	Weak transcription	Gastric	stomach
8	chr8:6567000-6578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:6567000-6580200	Weak transcription	Right Ventricle	heart
10	chr8:6567200-6569600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr8:6567400-6571000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:6567400-6575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:6567400-6578000	Weak transcription	Brain Angular Gyrus	brain
14	chr8:6567400-6586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:6567400-6590000	Weak transcription	Left Ventricle	heart
16	chr8:6567400-6590200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:6567400-6590600	Weak transcription	Psoas Muscle	Psoas
18	chr8:6567400-6590800	Weak transcription	Pancreas	Pancrea
19	chr8:6567400-6592600	Weak transcription	Aorta	Aorta
20	chr8:6567600-6572800	Weak transcription	Stomach Mucosa	stomach
21	chr8:6567600-6575600	Weak transcription	Fetal Stomach	stomach
22	chr8:6567600-6575600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:6567600-6577400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:6567600-6585400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:6567600-6586400	Weak transcription	Osteobl	bone
26	chr8:6567600-6589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:6567800-6570400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:6567800-6571200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:6567800-6575800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:6567800-6575800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:6567800-6585400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:6567800-6585400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:6567800-6589200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:6567800-6590000	Weak transcription	NHLF	lung
35	chr8:6568000-6569200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr8:6568000-6569200	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:6568000-6569200	Weak transcription	Placenta	Placenta
38	chr8:6568000-6569200	Weak transcription	Thymus	Thymus
39	chr8:6568000-6570400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:6568000-6571000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:6568000-6571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:6568000-6572800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:6568000-6574800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:6568000-6574800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:6568000-6574800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:6568000-6575400	Weak transcription	Fetal Lung	lung
47	chr8:6568000-6575600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:6568000-6575600	Weak transcription	Fetal Heart	heart
49	chr8:6568000-6577600	Weak transcription	NH-A	brain
50	chr8:6568000-6585400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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