Variant report

Variant	rs2072740
Chromosome Location	chr1:166845028-166845029
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166842772..166845485-chr1:167025174..167028008,3	K562	blood:
2	chr1:166844922..166845781-chr12:53400069..53400936,2	Hela-S3	cervix:
3	chr1:166843237..166845643-chr1:167189238..167190954,2	MCF-7	breast:
4	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
5	chr1:166832382..166838058-chr1:166843027..166847962,8	MCF-7	breast:
6	chr1:166843561..166845578-chr1:167189689..167191606,2	K562	blood:
7	chr1:166806593..166810261-chr1:166844073..166846866,6	K562	blood:
8	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000063046	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000225171	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10800270	0.86[ASN][1000 genomes]
rs10800276	0.94[ASN][1000 genomes]
rs11576904	0.87[EUR][1000 genomes]
rs11583927	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11584352	0.97[ASN][1000 genomes]
rs12062326	0.81[ASN][1000 genomes]
rs12562794	0.85[ASN][1000 genomes]
rs1543313	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2038020	0.92[EUR][1000 genomes]
rs2038022	0.92[EUR][1000 genomes]
rs2075946	0.81[ASN][1000 genomes]
rs2223221	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280995	0.97[ASN][1000 genomes]
rs2294195	0.96[ASN][1000 genomes]
rs2294220	0.82[EUR][1000 genomes]
rs34381372	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656516	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4657609	0.99[ASN][1000 genomes]
rs4657612	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4657613	0.93[ASN][1000 genomes]
rs7513457	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9633326	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166843800-166846000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:166843800-166846000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:166843800-166846000	Active TSS	HepG2	liver
4	chr1:166844000-166846000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:166844000-166846000	Active TSS	GM12878-XiMat	blood
6	chr1:166844000-166846200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:166844200-166845200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:166844200-166845200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr1:166844200-166846000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:166844200-166846200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:166844200-166846200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:166844400-166845200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr1:166844400-166845600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:166844400-166845600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:166844400-166845800	Active TSS	HSMM	muscle
16	chr1:166844400-166846000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:166844400-166846000	Active TSS	Ovary	ovary
18	chr1:166844400-166846000	Active TSS	Psoas Muscle	Psoas
19	chr1:166844400-166846000	Active TSS	A549	lung
20	chr1:166844400-166846000	Active TSS	HSMMtube	muscle
21	chr1:166844400-166846200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:166844400-166846200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:166844400-166846200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:166844400-166846200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:166844400-166846200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:166844400-166846200	Active TSS	NHDF-Ad	bronchial
27	chr1:166844600-166845200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:166844600-166845200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:166844600-166845400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr1:166844600-166845400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:166844600-166845600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:166844600-166845600	Active TSS	Esophagus	oesophagus
33	chr1:166844600-166846000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:166844600-166846000	Active TSS	Aorta	Aorta
35	chr1:166844600-166846000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr1:166844600-166846200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr1:166844800-166845200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr1:166844800-166845200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr1:166844800-166845600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:166844800-166845600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:166844800-166845600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:166844800-166845600	Active TSS	Gastric	stomach
43	chr1:166844800-166845600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr1:166844800-166845600	Active TSS	Small Intestine	intestine
45	chr1:166844800-166845600	Active TSS	Spleen	Spleen
46	chr1:166844800-166845800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:166844800-166845800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:166844800-166845800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:166844800-166845800	Active TSS	Primary T cells from cord blood	blood
50	chr1:166844800-166845800	Active TSS	Primary hematopoietic stem cells short term culture	blood

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