Variant report

Variant	rs4972392
Chromosome Location	chr2:173860088-173860089
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173849631..173852622-chr2:173858056..173860174,2	K562	blood:
2	chr2:173859166..173862037-chr2:173939692..173943605,3	MCF-7	breast:
3	chr2:173849142..173852598-chr2:173855356..173861233,5	MCF-7	breast:
4	chr2:173859019..173861377-chr2:173862387..173864335,2	MCF-7	breast:
5	chr2:173853861..173856842-chr2:173857808..173860672,3	MCF-7	breast:
6	chr2:173849354..173852622-chr2:173856420..173860174,4	K562	blood:
7	chr2:173848162..173850898-chr2:173858454..173860280,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12693015	0.83[AFR][1000 genomes]
rs34125188	0.84[EUR][1000 genomes]
rs35527769	0.96[EUR][1000 genomes]
rs7604728	0.84[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173833800-173860800	Weak transcription	Right Ventricle	heart
2	chr2:173835800-173886800	Weak transcription	Lung	lung
3	chr2:173843200-173861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:173849800-173861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:173850400-173864600	Weak transcription	Psoas Muscle	Psoas
6	chr2:173851000-173860400	Weak transcription	Fetal Heart	heart
7	chr2:173851000-173861000	Weak transcription	Fetal Kidney	kidney
8	chr2:173851200-173860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173851200-173860200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:173852400-173868000	Weak transcription	Gastric	stomach
11	chr2:173855800-173860400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:173855800-173860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:173855800-173863400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
15	chr2:173856200-173861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:173856200-173861400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:173856200-173862000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:173856200-173863600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
20	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
21	chr2:173856400-173860400	Weak transcription	Fetal Lung	lung
22	chr2:173856400-173860600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:173857400-173861400	Weak transcription	Liver	Liver
24	chr2:173857800-173860400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:173858000-173860200	Enhancers	A549	lung
26	chr2:173858000-173862000	Enhancers	HepG2	liver
27	chr2:173858200-173860600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:173858200-173862000	Enhancers	Ovary	ovary
29	chr2:173858400-173862000	Enhancers	HSMMtube	muscle
30	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:173858600-173861800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:173858600-173862600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:173858800-173860800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:173859200-173860600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:173859200-173860800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:173859200-173863200	Weak transcription	Placenta	Placenta
37	chr2:173859400-173860600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:173859400-173860600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:173859600-173861000	Enhancers	Fetal Stomach	stomach
40	chr2:173859600-173861000	Enhancers	Stomach Mucosa	stomach
41	chr2:173859600-173862000	Enhancers	NHDF-Ad	bronchial
42	chr2:173859600-173862200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:173859800-173860200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:173859800-173860400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:173859800-173860800	Enhancers	Adipose Nuclei	Adipose
46	chr2:173859800-173862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:173860000-173860200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:173860000-173860400	Enhancers	Fetal Muscle Trunk	muscle

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