Variant report

Variant	rs61375216
Chromosome Location	chr1:155583002-155583003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155582366-155583033	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:155582857-155583033	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:155579331-155583059	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:155579402-155583617	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:155582120-155583055	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:155582803-155583048	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:155582201-155583667	GM12891	blood:	n/a	n/a
8	POLR2A	chr1:155582777-155583005	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:155582281-155583048	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:155579396-155583651	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:155579345-155584848	GM12892	blood:	n/a	n/a
12	POLR2A	chr1:155582467-155583092	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:155579256-155583069	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155582969-155583019	ovcar-3	ovarian:	n/a
2	chr1:155582969-155583019	MCF10A-Er-Src	breast:	n/a
3	chr1:155582969-155583019	GM12891	blood:	n/a
4	chr1:155582969-155583019	CMK	blood:	n/a
5	chr1:155582969-155583019	K562	blood:	n/a
6	chr1:155582969-155583019	Hela-S3	cervix:	n/a
7	chr1:155582969-155583019	HMEC	breast:	n/a
8	chr1:155582969-155583019	AoSMC	blood vessel:	n/a
9	chr1:155582969-155583019	Caco-2	colon:	n/a
10	chr1:155582969-155583019	SKMC	muscle:	n/a
11	chr1:155582969-155583019	H1-hESC	embryonic stem cell:	embryo
12	chr1:155582969-155583019	SK-N-MC	brain:	n/a
13	chr1:155582969-155583019	SK-N-SH_RA	brain:	n/a
14	chr1:155582969-155583019	MCF-7	breast:	n/a
15	chr1:155582969-155583019	HRCEpiC	kidney:	n/a
16	chr1:155582969-155583019	HNPCEpiC	eye:	n/a
17	chr1:155582969-155583019	NH-A	brain:	n/a
18	chr1:155582969-155583019	NB4	blood:	n/a
19	chr1:155582969-155583019	NT2-D1	testis:	n/a
20	chr1:155582969-155583019	T-47D	breast:	n/a
21	chr1:155582969-155583019	ProgFib	skin:	n/a
22	chr1:155582969-155583019	AG09309	skin:	n/a
23	chr1:155582969-155583019	NHDF-neo	bronchial:	n/a
24	chr1:155582969-155583019	LNCaP	prostate:	n/a
25	chr1:155582969-155583019	HRPEpiC	eye:	n/a
26	chr1:155582969-155583019	AG09319	gingival:	n/a
27	chr1:155582969-155583019	HUVEC	blood vessel:	n/a
28	chr1:155582969-155583019	U87	brain:	n/a
29	chr1:155582969-155583019	PFSK-1	brain:	n/a
30	chr1:155582969-155583019	AG04449	skin:	fetal
31	chr1:155582969-155583019	SK-N-SH	brain:	n/a
32	chr1:155582969-155583019	HCT-116	colon:	n/a
33	chr1:155582969-155583019	HEK293	kidney:	embryo
34	chr1:155582969-155583019	NHBE	bronchial:	n/a
35	chr1:155582969-155583019	BE2_C	brain:	n/a
36	chr1:155582969-155583019	HCF	heart:	n/a
37	chr1:155582969-155583019	Hepatocyte	liver:	n/a
38	chr1:155582969-155583019	ECC-1	luminal epithelium:	n/a
39	chr1:155582969-155583019	Jurkat	blood:	n/a
40	chr1:155582969-155583019	RPTEC	kidney:	n/a
41	chr1:155582969-155583019	HCM	heart:	n/a
42	chr1:155582969-155583019	A549	lung:	n/a
43	chr1:155582969-155583019	AG10803	skin:	n/a
44	chr1:155582969-155583019	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:155582969-155583019	PrEC	prostate:	n/a
46	chr1:155582969-155583019	HepG2	liver:	n/a
47	chr1:155582969-155583019	BJ	skin:	n/a
48	chr1:155582969-155583019	IMR90	lung:	fetal
49	chr1:155582969-155583019	GM19239	blood:	n/a
50	chr1:155582969-155583019	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000232519	TF binding region
MSTO1	TF binding region
ENSG00000232519	CpG island
MSTO1	CpG island

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

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

rs_ID	r²[population]
rs13375894	1.00[AMR][1000 genomes]
rs13376498	1.00[AMR][1000 genomes]
rs16836971	1.00[AMR][1000 genomes]
rs16837058	1.00[AMR][1000 genomes]
rs34290183	1.00[AMR][1000 genomes]
rs57468684	1.00[AMR][1000 genomes]
rs57883269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58774418	1.00[AMR][1000 genomes]
rs59287240	1.00[AMR][1000 genomes]
rs60777355	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663016	1.00[AMR][1000 genomes]
rs6699393	1.00[AMR][1000 genomes]
rs7548199	1.00[AMR][1000 genomes]
rs7550827	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv482134	chr1:155580007-155584757	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	n/a
13	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155579800-155584400	Weak transcription	Aorta	Aorta
2	chr1:155579800-155585800	Weak transcription	Fetal Brain Male	brain
3	chr1:155579800-155586200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:155579800-155586600	Weak transcription	Fetal Heart	heart
5	chr1:155580000-155584600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:155580000-155586600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:155580000-155593200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:155580200-155586400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:155580400-155584600	Weak transcription	Right Atrium	heart
10	chr1:155580600-155584600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:155580600-155585000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:155580600-155586800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:155580600-155589600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:155580600-155597000	Weak transcription	Colonic Mucosa	Colon
15	chr1:155581200-155583600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:155581200-155583800	Weak transcription	Hela-S3	cervix
17	chr1:155581200-155586200	Weak transcription	HMEC	breast
18	chr1:155581200-155586600	Weak transcription	NH-A	brain
19	chr1:155581400-155586200	Weak transcription	GM12878-XiMat	blood
20	chr1:155581800-155583200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:155581800-155583400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:155581800-155583600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:155581800-155583600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:155581800-155583600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:155581800-155584800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:155581800-155585000	Strong transcription	Fetal Intestine Small	intestine
27	chr1:155581800-155585000	Strong transcription	Spleen	Spleen
28	chr1:155582000-155583200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:155582000-155583200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr1:155582000-155583200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:155582000-155583200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:155582000-155583200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:155582000-155583200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:155582000-155583200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:155582000-155583200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:155582000-155583200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:155582000-155583200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:155582000-155583200	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:155582000-155583200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:155582000-155583200	Genic enhancers	Adipose Nuclei	Adipose
41	chr1:155582000-155583200	Strong transcription	Brain Angular Gyrus	brain
42	chr1:155582000-155583200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr1:155582000-155583200	Strong transcription	Fetal Thymus	thymus
44	chr1:155582000-155583200	Strong transcription	Ovary	ovary
45	chr1:155582000-155583200	Strong transcription	A549	lung
46	chr1:155582000-155583200	Strong transcription	HepG2	liver
47	chr1:155582000-155583200	Strong transcription	NHEK	skin
48	chr1:155582000-155583200	Strong transcription	NHLF	lung
49	chr1:155582000-155583400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:155582000-155583400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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