Variant report

Variant	rs2117008
Chromosome Location	chr3:136732082-136732083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136471274..136473260-chr3:136730800..136734438,3	MCF-7	breast:
2	chr3:136467223..136474337-chr3:136727110..136735930,17	K562	blood:
3	chr3:136469703..136474003-chr3:136727974..136735265,9	MCF-7	breast:
4	chr3:136467223..136474007-chr3:136729764..136735930,11	K562	blood:

Variant related genes	Relation type
ENSG00000118007	Chromatin interaction
ENSG00000261758	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs108858	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11711599	0.83[ASN][1000 genomes]
rs12054220	0.80[ASN][1000 genomes]
rs13095034	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1385306	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1470142	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1654900	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1654901	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1654924	0.80[ASN][1000 genomes]
rs1682361	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1682362	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1682363	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1682364	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1682365	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1682366	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs171519	0.83[ASN][1000 genomes]
rs181732	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs183120	0.83[ASN][1000 genomes]
rs2086880	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2344092	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34564994	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs361227	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs361228	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs361229	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs361231	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs361232	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs361233	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs361234	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs361235	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs361238	0.83[ASN][1000 genomes]
rs361240	0.83[ASN][1000 genomes]
rs361249	0.83[ASN][1000 genomes]
rs361253	0.83[ASN][1000 genomes]
rs4678278	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4678281	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55781515	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6439677	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6439678	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6763000	0.83[AMR][1000 genomes]
rs6766766	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6766858	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6802479	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71620537	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs754694	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7640951	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7646307	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs835627	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs835628	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs835629	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs835630	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs835631	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs835651	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs835652	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs900947	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs900948	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs900949	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs900950	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9681468	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9817061	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9827066	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9845076	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9850024	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9854795	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9874615	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9875855	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs999038	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877534	chr3:136676303-136765859	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv524856	chr3:136693459-137190765	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1012111	chr3:136695367-137343430	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136703800-136732400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:136713600-136732800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:136715200-136733000	Weak transcription	Left Ventricle	heart
4	chr3:136720400-136732400	Weak transcription	Hela-S3	cervix
5	chr3:136723800-136732400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:136726000-136732800	Enhancers	Fetal Thymus	thymus
7	chr3:136726600-136732600	Weak transcription	Placenta	Placenta
8	chr3:136727000-136733000	Weak transcription	Fetal Stomach	stomach
9	chr3:136727400-136732600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:136728000-136733000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:136728000-136733000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:136728200-136732400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:136728400-136732400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr3:136728800-136732600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr3:136729000-136732600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:136729200-136732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:136729600-136732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:136729800-136733000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:136730000-136733000	Weak transcription	Esophagus	oesophagus
20	chr3:136730200-136732800	Enhancers	NHDF-Ad	bronchial
21	chr3:136730200-136733400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:136730400-136732600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:136730400-136732600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:136730800-136732400	Weak transcription	HepG2	liver
25	chr3:136730800-136732800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:136731000-136733800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:136731200-136732600	Enhancers	NHEK	skin
28	chr3:136731200-136733000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:136731400-136732400	Weak transcription	HMEC	breast
30	chr3:136731400-136732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:136731400-136732600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:136731400-136732800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr3:136731400-136732800	Weak transcription	HSMMtube	muscle
34	chr3:136731600-136732200	Weak transcription	Thymus	Thymus
35	chr3:136731600-136732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:136731600-136732600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:136731600-136732600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:136731600-136732600	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:136731600-136732600	Enhancers	Osteobl	bone
40	chr3:136731600-136732800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:136731600-136733000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:136731800-136732200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:136731800-136732200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:136731800-136732200	Weak transcription	NHLF	lung
45	chr3:136731800-136732800	Weak transcription	HSMM	muscle
46	chr3:136731800-136733000	Weak transcription	NH-A	brain
47	chr3:136732000-136732400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:136732000-136732400	Weak transcription	Adipose Nuclei	Adipose

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