Variant report

Variant	rs73984226
Chromosome Location	chr2:205403781-205403782
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205402598..205405548-chr2:205408714..205411419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10166278	1.00[EUR][1000 genomes]
rs10175056	1.00[EUR][1000 genomes]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328697	1.00[EUR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	1.00[EUR][1000 genomes]
rs13399965	1.00[EUR][1000 genomes]
rs13400246	1.00[EUR][1000 genomes]
rs13407064	1.00[EUR][1000 genomes]
rs13410864	1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs58646057	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs9288355	1.00[EUR][1000 genomes]
rs9973966	1.00[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205395600-205409000	Weak transcription	Fetal Intestine Large	intestine
2	chr2:205397600-205409600	Weak transcription	Pancreas	Pancrea
3	chr2:205398600-205409400	Weak transcription	HSMMtube	muscle
4	chr2:205398800-205407600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:205402600-205403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:205402600-205404000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:205402600-205404200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:205402800-205403800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:205402800-205403800	Flanking Active TSS	HUVEC	blood vessel
10	chr2:205402800-205404000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:205402800-205404000	Enhancers	Fetal Lung	lung
12	chr2:205402800-205404200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:205403000-205403800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:205403000-205403800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:205403000-205403800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:205403000-205403800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:205403000-205404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:205403000-205404000	Enhancers	HSMM	muscle
19	chr2:205403000-205404000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr2:205403000-205404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:205403000-205404600	Enhancers	K562	blood
22	chr2:205403200-205404000	Enhancers	Fetal Kidney	kidney
23	chr2:205403400-205403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:205403400-205403800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:205403400-205408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:205403400-205409200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:205403400-205409200	Weak transcription	Spleen	Spleen
28	chr2:205403400-205409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:205403600-205403800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:205403600-205403800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr2:205403600-205403800	Enhancers	Colon Smooth Muscle	Colon
32	chr2:205403600-205403800	Enhancers	Osteobl	bone
33	chr2:205403600-205404000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:205403600-205404200	Enhancers	NHLF	lung
35	chr2:205403600-205409200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:205403600-205409200	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:205403600-205409400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:205403600-205409400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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