Variant report

Variant	rs589151
Chromosome Location	chr1:10567711-10567712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:10567095..10568153-chr1:10926865..10927880,8	K562	blood:
2	chr1:10566900..10569422-chr1:10571271..10572995,2	K562	blood:
3	chr1:10554713..10555456-chr1:10567516..10568024,2	MCF-7	breast:
4	chr1:10567638..10569716-chr1:10700234..10702656,2	K562	blood:
5	chr1:10566397..10569050-chr1:10569611..10571606,2	MCF-7	breast:
6	chr1:10554744..10555346-chr1:10567221..10567895,2	MCF-7	breast:
7	chr1:10567580..10568142-chr1:10969998..10970652,2	K562	blood:
8	chr1:10567319..10568120-chr1:10621986..10622609,2	K562	blood:
9	chr1:10566008..10570273-chr1:10573569..10578315,6	K562	blood:

No data

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10779737	0.88[EUR][1000 genomes]
rs11121581	0.96[EUR][1000 genomes]
rs11580264	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11584327	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12073943	0.89[EUR][1000 genomes]
rs12117392	0.82[AFR][1000 genomes]
rs12120962	0.82[AFR][1000 genomes]
rs17035189	0.88[EUR][1000 genomes]
rs1755592	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2186949	0.85[EUR][1000 genomes]
rs2274985	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs602601	0.93[EUR][1000 genomes]
rs604369	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604814	0.92[EUR][1000 genomes]
rs7419116	0.89[EUR][1000 genomes]
rs7512495	0.82[AFR][1000 genomes]
rs7543322	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7548453	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv2521	chr1:10553530-10598171	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10554800-10568600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:10555200-10568400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:10555200-10568600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:10555200-10570000	Weak transcription	Aorta	Aorta
5	chr1:10555600-10567800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:10555600-10567800	Weak transcription	HSMM	muscle
7	chr1:10555600-10567800	Weak transcription	NHDF-Ad	bronchial
8	chr1:10555600-10568600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:10555600-10568600	Weak transcription	Pancreas	Pancrea
10	chr1:10555600-10568600	Weak transcription	HSMMtube	muscle
11	chr1:10555600-10570400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:10555600-10570400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:10555600-10570600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:10555800-10567800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:10555800-10567800	Weak transcription	Fetal Lung	lung
16	chr1:10555800-10568600	Weak transcription	Esophagus	oesophagus
17	chr1:10555800-10569600	Weak transcription	Colonic Mucosa	Colon
18	chr1:10555800-10570400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:10556000-10569400	Weak transcription	Fetal Brain Female	brain
20	chr1:10556000-10570200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:10556400-10567800	Weak transcription	Hela-S3	cervix
22	chr1:10556400-10570200	Weak transcription	Fetal Kidney	kidney
23	chr1:10556600-10568000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:10556600-10568600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:10556600-10570000	Weak transcription	Right Ventricle	heart
26	chr1:10556600-10570400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:10556600-10570400	Weak transcription	Stomach Mucosa	stomach
28	chr1:10556800-10567800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:10556800-10567800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:10557000-10569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:10557400-10568600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:10557600-10567800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:10557600-10568800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:10557600-10569600	Weak transcription	HMEC	breast
35	chr1:10557600-10569600	Weak transcription	NHEK	skin
36	chr1:10557800-10568000	Weak transcription	Primary B cells from cord blood	blood
37	chr1:10557800-10569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:10557800-10569600	Weak transcription	NHLF	lung
39	chr1:10559000-10570600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:10559200-10570200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:10562600-10570000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:10562600-10570200	Weak transcription	Small Intestine	intestine
43	chr1:10562600-10570600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:10562800-10570000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:10564600-10568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:10564800-10567800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:10564800-10569200	Weak transcription	HUVEC	blood vessel
48	chr1:10564800-10570000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:10564800-10570400	Weak transcription	Right Atrium	heart
50	chr1:10564800-10570600	Weak transcription	Lung	lung

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