Variant report

Variant	rs1886742
Chromosome Location	chr1:59388546-59388547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59247716..59250635-chr1:59387494..59390458,3	K562	blood:
2	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
3	chr1:59381429..59382962-chr1:59387414..59389644,2	K562	blood:
4	chr1:59243135..59245707-chr1:59386967..59388565,2	K562	blood:
5	chr1:59377762..59379375-chr1:59386818..59388727,2	K562	blood:
6	chr1:59388442..59391556-chr1:59392905..59394797,3	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10158986	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10159430	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10889123	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207340	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11207344	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11802596	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11803507	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13375549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287670	0.81[EUR][1000 genomes]
rs57136299	0.93[EUR][1000 genomes]
rs57438070	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58237960	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58289858	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58865277	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60043252	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61414370	0.93[EUR][1000 genomes]
rs6667591	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6678724	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6693265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921508	0.93[EUR][1000 genomes]
rs72921540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921578	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs744171	0.93[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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59385000-59388800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:59385200-59390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:59386600-59399800	Enhancers	Fetal Intestine Small	intestine
5	chr1:59386800-59389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:59386800-59389200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:59386800-59390800	Enhancers	Fetal Intestine Large	intestine
8	chr1:59387000-59389000	Enhancers	Stomach Mucosa	stomach
9	chr1:59387000-59389200	Enhancers	NHEK	skin
10	chr1:59387200-59389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:59387200-59389200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:59387400-59389200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:59387400-59389200	Enhancers	Fetal Lung	lung
14	chr1:59387400-59389200	Enhancers	HMEC	breast
15	chr1:59387400-59389600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:59387600-59388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:59387600-59388600	Enhancers	Placenta	Placenta
18	chr1:59387600-59388800	Enhancers	Primary B cells from peripheral blood	blood
19	chr1:59387600-59388800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:59387600-59388800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:59387600-59388800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:59387600-59389000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:59387600-59389000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:59387600-59389000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:59387600-59389000	Enhancers	Colon Smooth Muscle	Colon
26	chr1:59387600-59389000	Enhancers	Esophagus	oesophagus
27	chr1:59387600-59389000	Enhancers	Right Atrium	heart
28	chr1:59387600-59389200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:59387600-59389200	Enhancers	Colonic Mucosa	Colon
30	chr1:59387600-59389200	Enhancers	Fetal Heart	heart
31	chr1:59387600-59389200	Enhancers	Fetal Muscle Leg	muscle
32	chr1:59387600-59389200	Enhancers	Fetal Stomach	stomach
33	chr1:59387600-59389200	Enhancers	Left Ventricle	heart
34	chr1:59387600-59389200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:59387600-59389200	Enhancers	Small Intestine	intestine
36	chr1:59387800-59388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:59387800-59388600	Enhancers	HSMM	muscle
38	chr1:59387800-59388800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:59387800-59388800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:59387800-59389000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:59388000-59388600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:59388000-59388600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:59388000-59388600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr1:59388000-59388600	Enhancers	Lung	lung
45	chr1:59388000-59388600	Enhancers	Ovary	ovary
46	chr1:59388000-59388600	Flanking Active TSS	Hela-S3	cervix
47	chr1:59388000-59388800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:59388000-59388800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr1:59388000-59388800	Enhancers	Pancreas	Pancrea
50	chr1:59388000-59388800	Enhancers	K562	blood

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