Variant report

Variant	rs73976508
Chromosome Location	chr2:172583845-172583846
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	chr2:172582430..172585207-chr2:172948678..172951618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13385135	1.00[AMR][1000 genomes]
rs1515813	1.00[AMR][1000 genomes]
rs2176148	1.00[AMR][1000 genomes]
rs312923	1.00[AMR][1000 genomes]
rs4668408	1.00[AMR][1000 genomes]
rs4668409	1.00[AMR][1000 genomes]
rs61384579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6746051	1.00[AMR][1000 genomes]
rs73976515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976519	0.90[AFR][1000 genomes];1.00[AMR][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172545400-172588000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:172545800-172588000	Weak transcription	Right Ventricle	heart
4	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
5	chr2:172551600-172584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:172552200-172587600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:172554400-172588000	Weak transcription	Esophagus	oesophagus
8	chr2:172557400-172584400	Weak transcription	Ovary	ovary
9	chr2:172559000-172585000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
11	chr2:172561200-172587800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
13	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr2:172567000-172584200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:172569000-172584200	Weak transcription	Dnd41	blood
16	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:172571400-172597800	Strong transcription	HSMM	muscle
19	chr2:172571800-172594200	Strong transcription	HUVEC	blood vessel
20	chr2:172572000-172595400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:172573600-172584800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:172574800-172587800	Weak transcription	Lung	lung
23	chr2:172575400-172595600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:172576200-172585800	Weak transcription	Psoas Muscle	Psoas
25	chr2:172576400-172584400	Weak transcription	Thymus	Thymus
26	chr2:172577000-172584400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:172579800-172589200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:172579800-172595600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
30	chr2:172580000-172598000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:172580200-172588200	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr2:172580200-172589600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:172580200-172590000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:172580200-172595400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:172580200-172595400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:172580200-172595600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:172580200-172596000	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
39	chr2:172580400-172589600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:172580400-172595400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:172580400-172595600	Strong transcription	Primary T cells from cord blood	blood
42	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
43	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:172580600-172584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:172580600-172595400	Strong transcription	Primary B cells from cord blood	blood
47	chr2:172580800-172587800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:172580800-172595600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:172581000-172584400	Weak transcription	Left Ventricle	heart
50	chr2:172581000-172585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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