Variant report

Variant	rs5010643
Chromosome Location	chr2:173861456-173861457
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173842376..173845001-chr2:173860642..173863497,2	MCF-7	breast:
2	chr2:173859166..173862037-chr2:173939692..173943605,3	MCF-7	breast:
3	chr2:173850441..173852065-chr2:173860790..173863463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1446979	1.00[EUR][1000 genomes]
rs16861061	1.00[EUR][1000 genomes]
rs16861147	1.00[EUR][1000 genomes]
rs16861224	1.00[EUR][1000 genomes]
rs16861293	1.00[EUR][1000 genomes]
rs2676516	1.00[EUR][1000 genomes]
rs6714475	1.00[EUR][1000 genomes]
rs73019614	1.00[EUR][1000 genomes]
rs874779	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	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173850400-173864600	Weak transcription	Psoas Muscle	Psoas
3	chr2:173852400-173868000	Weak transcription	Gastric	stomach
4	chr2:173855800-173863400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
6	chr2:173856200-173862000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:173856200-173863600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
9	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:173858000-173862000	Enhancers	HepG2	liver
11	chr2:173858200-173862000	Enhancers	Ovary	ovary
12	chr2:173858400-173862000	Enhancers	HSMMtube	muscle
13	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:173858600-173861800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:173858600-173862600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:173859200-173863200	Weak transcription	Placenta	Placenta
17	chr2:173859600-173862000	Enhancers	NHDF-Ad	bronchial
18	chr2:173859600-173862200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:173859800-173862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:173860200-173861800	Enhancers	Hela-S3	cervix
21	chr2:173860200-173862000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:173860200-173862000	Enhancers	HSMM	muscle
23	chr2:173860200-173862200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:173860200-173863800	Enhancers	HMEC	breast
25	chr2:173860200-173864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:173860400-173861600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:173860400-173861600	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:173860400-173861600	Enhancers	NH-A	brain
29	chr2:173860400-173862000	Enhancers	NHEK	skin
30	chr2:173860400-173862200	Enhancers	Osteobl	bone
31	chr2:173860600-173861600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:173860600-173861600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:173860600-173861800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:173860600-173862000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:173860600-173862000	Enhancers	NHLF	lung
36	chr2:173860600-173868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:173860800-173861800	Flanking Active TSS	A549	lung
38	chr2:173860800-173877800	Weak transcription	Adipose Nuclei	Adipose
39	chr2:173861000-173861600	Enhancers	Fetal Kidney	kidney
40	chr2:173861000-173861800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:173861000-173862000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:173861000-173862800	Weak transcription	Fetal Heart	heart
43	chr2:173861000-173867400	Weak transcription	Stomach Mucosa	stomach
44	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
45	chr2:173861200-173862000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:173861200-173862400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:173861200-173862400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:173861200-173866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:173861200-173867400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:173861400-173861800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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