Variant report

Variant	rs527508
Chromosome Location	chr1:155585307-155585308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34869594	1.00[AMR][1000 genomes]
rs41264235	1.00[AMR][1000 genomes]
rs72997138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997142	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997158	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118475	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription 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 target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv3043	chr1:155574054-155608574	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
12	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155579800-155585800	Weak transcription	Fetal Brain Male	brain
2	chr1:155579800-155586200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:155579800-155586600	Weak transcription	Fetal Heart	heart
4	chr1:155580000-155586600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155580000-155593200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:155580200-155586400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:155580600-155586800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:155580600-155589600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:155580600-155597000	Weak transcription	Colonic Mucosa	Colon
10	chr1:155581200-155586200	Weak transcription	HMEC	breast
11	chr1:155581200-155586600	Weak transcription	NH-A	brain
12	chr1:155581400-155586200	Weak transcription	GM12878-XiMat	blood
13	chr1:155582000-155585400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:155582000-155585400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr1:155582800-155586200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:155582800-155586400	Weak transcription	HSMM	muscle
17	chr1:155582800-155586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:155582800-155589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:155583000-155586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:155583000-155587000	Weak transcription	Pancreas	Pancrea
21	chr1:155583000-155594800	Weak transcription	Lung	lung
22	chr1:155583200-155585600	Weak transcription	NHLF	lung
23	chr1:155583200-155585800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:155583200-155586000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:155583200-155586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:155583200-155586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:155583200-155586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:155583200-155586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:155583200-155586400	Weak transcription	HSMMtube	muscle
30	chr1:155583200-155586600	Weak transcription	Ovary	ovary
31	chr1:155583200-155586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:155583200-155587200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:155583200-155587200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:155583200-155587200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:155583200-155587400	Weak transcription	NHEK	skin
36	chr1:155583200-155587600	Weak transcription	NHDF-Ad	bronchial
37	chr1:155583200-155587800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:155583200-155587800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:155583200-155589400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:155583200-155591400	Weak transcription	Adipose Nuclei	Adipose
41	chr1:155583200-155593200	Weak transcription	Thymus	Thymus
42	chr1:155583200-155596000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:155583200-155597400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:155583200-155605600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:155583200-155605800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:155583400-155585400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:155583400-155585400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:155583400-155585600	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:155583400-155586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:155583400-155586200	Weak transcription	Duodenum Mucosa	Duodenum

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