Variant report

Variant	rs10158831
Chromosome Location	chr1:59389594-59389595
allele	A/C
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	chr1:59388758..59390537-chr1:59398556..59401033,2	K562	blood:
3	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
4	chr1:59381429..59382962-chr1:59387414..59389644,2	K562	blood:
5	chr1:59388442..59391556-chr1:59392905..59394797,3	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10889121	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207331	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12090072	0.80[EUR][1000 genomes]
rs2038863	0.82[EUR][1000 genomes]
rs2477745	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2716113	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716127	0.82[EUR][1000 genomes]
rs2764911	0.83[EUR][1000 genomes]
rs2764914	0.85[EUR][1000 genomes]
rs2764915	0.82[EUR][1000 genomes]
rs2764917	0.83[EUR][1000 genomes]
rs2953376	0.83[EUR][1000 genomes]
rs3015312	0.85[EUR][1000 genomes]
rs4528141	0.88[EUR][1000 genomes];0.83[ASN][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59385200-59390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:59386600-59399800	Enhancers	Fetal Intestine Small	intestine
4	chr1:59386800-59390800	Enhancers	Fetal Intestine Large	intestine
5	chr1:59387400-59389600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr1:59388400-59391800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:59388400-59391800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:59388400-59393600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:59388400-59397800	Weak transcription	NHLF	lung
10	chr1:59388600-59391800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:59388600-59393200	Weak transcription	Gastric	stomach
12	chr1:59388600-59397800	Weak transcription	Lung	lung
13	chr1:59388800-59391800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:59388800-59392800	Weak transcription	Hela-S3	cervix
15	chr1:59388800-59393000	Weak transcription	K562	blood
16	chr1:59388800-59393800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:59388800-59394600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:59388800-59397800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:59388800-59398600	Weak transcription	Pancreas	Pancrea
20	chr1:59389000-59391800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:59389000-59391800	Weak transcription	Stomach Mucosa	stomach
22	chr1:59389000-59391800	Weak transcription	GM12878-XiMat	blood
23	chr1:59389000-59392000	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:59389000-59394200	Weak transcription	Esophagus	oesophagus
25	chr1:59389000-59398800	Weak transcription	Right Atrium	heart
26	chr1:59389000-59407000	Weak transcription	Spleen	Spleen
27	chr1:59389200-59390200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:59389200-59391800	Weak transcription	Fetal Lung	lung
29	chr1:59389200-59391800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:59389200-59391800	Weak transcription	Small Intestine	intestine
31	chr1:59389200-59392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:59389200-59392200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:59389200-59392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:59389200-59392600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:59389200-59392600	Weak transcription	HMEC	breast
36	chr1:59389200-59392600	Weak transcription	NHEK	skin
37	chr1:59389200-59394200	Weak transcription	Colonic Mucosa	Colon
38	chr1:59389200-59394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:59389200-59395400	Weak transcription	Fetal Thymus	thymus
40	chr1:59389200-59398600	Weak transcription	Psoas Muscle	Psoas
41	chr1:59389200-59401400	Weak transcription	Left Ventricle	heart
42	chr1:59389400-59391600	Weak transcription	Duodenum Mucosa	Duodenum

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