Variant report

Variant	rs7594671
Chromosome Location	chr2:142888107-142888108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36295331..36295851-chr2:142887972..142888603,2	Hela-S3	cervix:
2	chr1:173835516..173837699-chr2:142887430..142889764,2	MCF-7	breast:
3	chr2:97534313..97536042-chr2:142885468..142888404,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100916	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13029758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs13382469	1.00[CHB][hapmap]
rs13396415	1.00[CHB][hapmap]
rs1375608	1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs1449488	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17776027	0.94[EUR][1000 genomes]
rs17776043	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17834293	0.81[EUR][1000 genomes]
rs2290142	0.85[EUR][1000 genomes]
rs4662397	0.85[EUR][1000 genomes]
rs4662398	0.85[EUR][1000 genomes]
rs6707007	0.83[EUR][1000 genomes]
rs72847083	0.85[EUR][1000 genomes]
rs72847089	0.85[EUR][1000 genomes]
rs72849805	0.85[EUR][1000 genomes]
rs72849811	0.85[EUR][1000 genomes]
rs72849830	0.86[EUR][1000 genomes]
rs72849836	0.86[EUR][1000 genomes]
rs72849851	0.86[EUR][1000 genomes]
rs72851456	0.86[EUR][1000 genomes]
rs72851466	0.86[EUR][1000 genomes]
rs72852610	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72852633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72852654	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72853430	0.84[EUR][1000 genomes]
rs72853432	0.84[EUR][1000 genomes]
rs72853692	0.85[EUR][1000 genomes]
rs895936	1.00[CHB][hapmap]

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	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv875254	chr2:142833327-142931146	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv979390	chr2:142883251-142888150	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142885400-142890800	Active TSS	Brain Anterior Caudate	brain
2	chr2:142885600-142890400	Active TSS	Brain Substantia Nigra	brain
3	chr2:142885800-142889800	Active TSS	Brain Angular Gyrus	brain
4	chr2:142885800-142890000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:142886000-142890000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:142887200-142889000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr2:142887200-142889800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:142887400-142888200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:142887400-142888200	Flanking Active TSS	Liver	Liver
10	chr2:142887400-142888200	Active TSS	Pancreas	Pancrea
11	chr2:142887400-142888400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:142887400-142888600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:142887400-142888600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr2:142887400-142888800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:142887400-142889200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:142887400-142889200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr2:142887400-142889200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:142887400-142889400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr2:142887400-142889400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:142887400-142889400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:142887400-142889400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:142887400-142889400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:142887400-142889600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:142887400-142889600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:142887400-142889600	Active TSS	Right Atrium	heart
26	chr2:142887600-142888200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:142887600-142888200	Flanking Active TSS	Fetal Brain Female	brain
28	chr2:142887600-142888200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
29	chr2:142887600-142888200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr2:142887600-142888400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:142887600-142888400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr2:142887600-142888600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr2:142887600-142888600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr2:142887600-142888600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
35	chr2:142887600-142888600	Flanking Active TSS	Right Ventricle	heart
36	chr2:142887600-142889000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr2:142887600-142889000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:142887600-142889200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:142887600-142889200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr2:142887600-142889200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr2:142887600-142889200	Bivalent/Poised TSS	Fetal Lung	lung
42	chr2:142887600-142889200	Active TSS	Gastric	stomach
43	chr2:142887600-142889200	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr2:142887600-142889400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
45	chr2:142887600-142889400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:142887600-142889400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:142887600-142889400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:142887600-142889400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:142887600-142889400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr2:142887600-142889400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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