Variant report

Variant	rs7582052
Chromosome Location	chr2:187366717-187366718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:187366595-187367524	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187350930..187352982-chr2:187364915..187367637,2	MCF-7	breast:
2	chr2:187365870..187368729-chr2:187369897..187372520,4	K562	blood:

Variant related genes	Relation type
ZC3H15	TF binding region
ENSG00000065548	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10172850	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10192067	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10210844	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10931245	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11673938	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12611673	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13017038	0.83[ASN][1000 genomes]
rs1375326	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1448863	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1470230	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1975594	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1992930	0.82[AMR][1000 genomes]
rs2044919	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2119865	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305409	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768775	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3768776	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144786	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4144822	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4144824	0.82[AMR][1000 genomes]
rs4666704	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4666705	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667089	0.82[AMR][1000 genomes]
rs4667091	0.83[AMR][1000 genomes]
rs4667093	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667094	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667097	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667098	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667099	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667100	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667101	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667102	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56044376	0.84[AMR][1000 genomes]
rs6434181	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434182	0.81[ASN][1000 genomes]
rs6434183	0.81[ASN][1000 genomes]
rs6717081	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732188	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732449	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740632	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6741184	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6747289	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6749314	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752407	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6754179	0.85[ASN][1000 genomes]
rs6759502	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7556814	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7562659	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7568700	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7569642	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7570883	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7586291	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7587410	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595269	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7607162	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9807987	0.82[AMR][1000 genomes]
rs988110	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7582052	RP11-410E4.1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187355600-187369000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:187355800-187370200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:187356800-187368400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:187357000-187379000	Strong transcription	Fetal Thymus	thymus
5	chr2:187357400-187383000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:187357600-187382600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:187357600-187386200	Strong transcription	Dnd41	blood
8	chr2:187358200-187379000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:187358400-187366800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:187358400-187367200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:187358600-187379000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:187358600-187385800	Weak transcription	Esophagus	oesophagus
13	chr2:187358800-187367800	Weak transcription	Psoas Muscle	Psoas
14	chr2:187358800-187377200	Strong transcription	HepG2	liver
15	chr2:187359000-187376000	Strong transcription	GM12878-XiMat	blood
16	chr2:187359600-187386400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:187359800-187374800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:187359800-187374800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:187359800-187375000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:187359800-187379000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:187359800-187379200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:187359800-187379400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:187359800-187379800	Strong transcription	HSMM	muscle
24	chr2:187359800-187380400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:187359800-187381400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:187359800-187387200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:187360000-187368000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:187360000-187368600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:187360000-187368600	Strong transcription	Adipose Nuclei	Adipose
30	chr2:187360000-187376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:187360000-187378600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:187360000-187378800	Strong transcription	Liver	Liver
33	chr2:187360000-187379200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:187360000-187386800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:187360200-187367400	Strong transcription	Fetal Lung	lung
36	chr2:187360200-187367400	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:187360200-187368600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:187360200-187369200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:187360200-187374400	Strong transcription	NH-A	brain
40	chr2:187360200-187374800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:187360200-187374800	Strong transcription	Fetal Intestine Large	intestine
42	chr2:187360200-187375400	Strong transcription	Primary B cells from cord blood	blood
43	chr2:187360200-187376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:187360200-187377000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr2:187360200-187378600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:187360200-187379000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr2:187360200-187379200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:187360400-187368800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:187360400-187374800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:187360800-187368000	Strong transcription	Primary T cells from cord blood	blood

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