Variant report

Variant	rs57208252
Chromosome Location	chr1:155586280-155586281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155585309..155588170-chr1:155594115..155596195,2	MCF-7	breast:
2	chr1:155581980..155584132-chr1:155585540..155587149,2	K562	blood:

Variant related genes	Relation type
ENSG00000125459	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10158935	0.85[AFR][1000 genomes]
rs13374779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375894	0.88[AFR][1000 genomes]
rs16836971	0.88[AFR][1000 genomes]
rs57113007	1.00[AMR][1000 genomes]
rs58774418	0.85[AFR][1000 genomes]
rs59287240	0.88[AFR][1000 genomes]
rs59992688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs676670	1.00[AMR][1000 genomes]
rs7550827	0.85[AFR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155579800-155586600	Weak transcription	Fetal Heart	heart
2	chr1:155580000-155586600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:155580000-155593200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:155580200-155586400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:155580600-155586800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:155580600-155589600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:155580600-155597000	Weak transcription	Colonic Mucosa	Colon
8	chr1:155581200-155586600	Weak transcription	NH-A	brain
9	chr1:155582800-155586400	Weak transcription	HSMM	muscle
10	chr1:155582800-155586800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155582800-155589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:155583000-155586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:155583000-155587000	Weak transcription	Pancreas	Pancrea
14	chr1:155583000-155594800	Weak transcription	Lung	lung
15	chr1:155583200-155586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:155583200-155586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:155583200-155586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:155583200-155586400	Weak transcription	HSMMtube	muscle
19	chr1:155583200-155586600	Weak transcription	Ovary	ovary
20	chr1:155583200-155586800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:155583200-155587200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:155583200-155587200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:155583200-155587200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:155583200-155587400	Weak transcription	NHEK	skin
25	chr1:155583200-155587600	Weak transcription	NHDF-Ad	bronchial
26	chr1:155583200-155587800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:155583200-155587800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:155583200-155589400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:155583200-155591400	Weak transcription	Adipose Nuclei	Adipose
30	chr1:155583200-155593200	Weak transcription	Thymus	Thymus
31	chr1:155583200-155596000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:155583200-155597400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:155583200-155605600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:155583200-155605800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:155583400-155586400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:155583400-155586400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:155583400-155586800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:155583400-155586800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:155583400-155586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:155583400-155586800	Weak transcription	Fetal Intestine Large	intestine
41	chr1:155583400-155586800	Weak transcription	Placenta	Placenta
42	chr1:155583400-155587000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:155583400-155587000	Weak transcription	Gastric	stomach
44	chr1:155583400-155587200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:155583400-155587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:155583400-155587400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:155583400-155588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:155583400-155588800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:155583400-155590200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:155583400-155591400	Weak transcription	Right Ventricle	heart

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