Variant report

Variant	rs58376522
Chromosome Location	chr2:86731596-86731597
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	chr2:86730870..86733454-chr2:86738287..86740838,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17027287	1.00[AMR][1000 genomes]
rs56249372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58487331	1.00[AMR][1000 genomes]
rs72928459	1.00[AMR][1000 genomes]
rs73945296	1.00[AMR][1000 genomes]
rs73946207	0.90[AFR][1000 genomes]
rs73946220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73949507	1.00[AMR][1000 genomes]
rs73949509	1.00[AMR][1000 genomes]
rs73949510	1.00[AMR][1000 genomes]
rs73949511	1.00[AMR][1000 genomes]
rs73949513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7557127	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86709200-86737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:86719800-86734600	Weak transcription	Psoas Muscle	Psoas
4	chr2:86724600-86737800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr2:86725400-86733200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:86726400-86735400	Weak transcription	NHLF	lung
7	chr2:86726400-86737400	Weak transcription	HUVEC	blood vessel
8	chr2:86726400-86741800	Weak transcription	NH-A	brain
9	chr2:86726400-86753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:86726600-86736400	Weak transcription	NHDF-Ad	bronchial
11	chr2:86726600-86748600	Weak transcription	Hela-S3	cervix
12	chr2:86726800-86739000	Weak transcription	K562	blood
13	chr2:86727000-86737200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:86727400-86734400	Weak transcription	Fetal Heart	heart
15	chr2:86727600-86731800	Weak transcription	HSMMtube	muscle
16	chr2:86727600-86732600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:86727600-86734600	Weak transcription	HMEC	breast
18	chr2:86727800-86732000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:86728000-86731800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:86728000-86731800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:86728000-86732000	Weak transcription	Brain Angular Gyrus	brain
22	chr2:86728000-86732000	Weak transcription	Fetal Kidney	kidney
23	chr2:86728000-86732000	Weak transcription	Gastric	stomach
24	chr2:86728000-86732400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:86728000-86732600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:86728000-86734200	Weak transcription	HSMM	muscle
27	chr2:86728000-86737600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:86728000-86737600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:86728000-86737600	Strong transcription	Adipose Nuclei	Adipose
30	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:86728000-86737800	Strong transcription	Fetal Intestine Large	intestine
33	chr2:86728000-86738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:86728000-86738400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:86728200-86731800	Weak transcription	Ovary	ovary
36	chr2:86728200-86737800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:86728200-86737800	Weak transcription	Stomach Mucosa	stomach
38	chr2:86728200-86738400	Strong transcription	Dnd41	blood
39	chr2:86728200-86755800	Weak transcription	Fetal Brain Male	brain
40	chr2:86728400-86732000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:86728400-86732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:86728400-86732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:86728400-86732200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:86728400-86736200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:86728400-86737800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:86728400-86738000	Strong transcription	Liver	Liver
47	chr2:86728400-86738400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr2:86728400-86738400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:86728400-86738400	Strong transcription	A549	lung
50	chr2:86728400-86747200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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