Variant report

Variant	rs73057234
Chromosome Location	chr2:205403417-205403418
allele	A/G
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10185786	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190012	0.91[AMR][1000 genomes]
rs10203725	1.00[EUR][1000 genomes]
rs10932074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11899900	0.91[AMR][1000 genomes]
rs11904064	0.91[AMR][1000 genomes]
rs13393438	1.00[EUR][1000 genomes]
rs13414039	1.00[EUR][1000 genomes]
rs13418573	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428250	0.91[AMR][1000 genomes]
rs4645000	0.82[AMR][1000 genomes]
rs56086550	0.91[AMR][1000 genomes]
rs61427199	0.81[AMR][1000 genomes]
rs6749339	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73057258	0.91[AMR][1000 genomes]
rs7565043	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:51 , 50 per page) page: 1 2

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	chr2:205402800-205403600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:205402800-205403600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:205402800-205403800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:205402800-205403800	Flanking Active TSS	HUVEC	blood vessel
12	chr2:205402800-205404000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:205402800-205404000	Enhancers	Fetal Lung	lung
14	chr2:205402800-205404200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:205403000-205403600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:205403000-205403600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:205403000-205403600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:205403000-205403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr2:205403000-205403600	Flanking Active TSS	Ovary	ovary
20	chr2:205403000-205403600	Enhancers	Stomach Mucosa	stomach
21	chr2:205403000-205403600	Active TSS	Stomach Smooth Muscle	stomach
22	chr2:205403000-205403600	Flanking Active TSS	NH-A	brain
23	chr2:205403000-205403600	Flanking Active TSS	NHLF	lung
24	chr2:205403000-205403600	Flanking Active TSS	Osteobl	bone
25	chr2:205403000-205403800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:205403000-205403800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:205403000-205403800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:205403000-205403800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:205403000-205404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:205403000-205404000	Enhancers	HSMM	muscle
31	chr2:205403000-205404000	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:205403000-205404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:205403000-205404600	Enhancers	K562	blood
34	chr2:205403200-205403600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:205403200-205403600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:205403200-205403600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:205403200-205403600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:205403200-205403600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:205403200-205403600	Active TSS	Brain Cingulate Gyrus	brain
40	chr2:205403200-205403600	Enhancers	Brain Germinal Matrix	brain
41	chr2:205403200-205403600	Enhancers	Brain Hippocampus Middle	brain
42	chr2:205403200-205403600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr2:205403200-205404000	Enhancers	Fetal Kidney	kidney
44	chr2:205403400-205403600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:205403400-205403600	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:205403400-205403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:205403400-205403800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:205403400-205408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:205403400-205409200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:205403400-205409200	Weak transcription	Spleen	Spleen

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