Variant report

Variant	rs34248247
Chromosome Location	chr2:110261564-110261565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110253478..110255313-chr2:110260770..110262296,2	MCF-7	breast:
2	chr2:110261068..110263464-chr2:110265348..110267401,2	MCF-7	breast:
3	chr2:110255320..110258868-chr2:110260045..110262270,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11265638	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34337102	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34919866	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35067919	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35531839	0.80[ASN][1000 genomes]
rs71425251	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71425253	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71425254	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72824772	0.80[ASN][1000 genomes]
rs9751648	0.80[ASN][1000 genomes]
rs9798478	0.96[EUR][1000 genomes];0.80[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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874779	chr2:110030964-110270250	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110250200-110263200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:110252800-110263400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:110254600-110261800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:110255600-110263200	Weak transcription	Osteobl	bone
5	chr2:110256000-110263200	Weak transcription	Left Ventricle	heart
6	chr2:110256200-110263200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:110256200-110270800	Weak transcription	Esophagus	oesophagus
8	chr2:110256200-110270800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:110256200-110271400	Weak transcription	Ovary	ovary
10	chr2:110256400-110262600	Weak transcription	Thymus	Thymus
11	chr2:110257000-110261600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:110257200-110262600	Weak transcription	Right Ventricle	heart
13	chr2:110257200-110263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:110257400-110262600	Weak transcription	Brain Germinal Matrix	brain
15	chr2:110257400-110263400	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:110257600-110261800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:110257600-110265400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:110257800-110262200	Weak transcription	Pancreas	Pancrea
19	chr2:110257800-110263600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:110257800-110265200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:110257800-110287800	Weak transcription	Gastric	stomach
22	chr2:110258200-110271200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:110259000-110261600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:110259000-110262200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:110259000-110262400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:110259400-110262800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:110259400-110263200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:110259600-110263000	Weak transcription	Aorta	Aorta
29	chr2:110259600-110264400	Weak transcription	Fetal Thymus	thymus
30	chr2:110259600-110267600	Weak transcription	NHLF	lung
31	chr2:110259800-110261800	Weak transcription	Lung	lung
32	chr2:110260000-110261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:110260400-110261600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:110260400-110262400	Weak transcription	Placenta	Placenta
35	chr2:110260600-110261600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:110260600-110262200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:110260800-110262800	Weak transcription	Fetal Brain Female	brain
38	chr2:110260800-110263600	Weak transcription	Fetal Brain Male	brain
39	chr2:110261000-110261600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:110261200-110261600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr2:110261200-110263800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:110261400-110261800	Strong transcription	HSMMtube	muscle
43	chr2:110261400-110262000	Strong transcription	Primary T cells from cord blood	blood
44	chr2:110261400-110263800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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