Variant report

Variant	rs34125188
Chromosome Location	chr2:173860827-173860828
allele	C/T
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	chr2:173849142..173852598-chr2:173855356..173861233,5	MCF-7	breast:
4	chr2:173859019..173861377-chr2:173862387..173864335,2	MCF-7	breast:
5	chr2:173860750..173861295-chr2:173886636..173887202,2	MCF-7	breast:
6	chr2:173850441..173852065-chr2:173860790..173863463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13033326	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1992808	0.89[EUR][1000 genomes]
rs35253091	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35527769	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4972392	0.84[EUR][1000 genomes]
rs7604728	0.99[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173843200-173861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:173849800-173861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:173850400-173864600	Weak transcription	Psoas Muscle	Psoas
5	chr2:173851000-173861000	Weak transcription	Fetal Kidney	kidney
6	chr2:173852400-173868000	Weak transcription	Gastric	stomach
7	chr2:173855800-173863400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:173856200-173861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:173856200-173861400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:173856200-173862000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:173856200-173863600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
14	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
15	chr2:173857400-173861400	Weak transcription	Liver	Liver
16	chr2:173858000-173862000	Enhancers	HepG2	liver
17	chr2:173858200-173862000	Enhancers	Ovary	ovary
18	chr2:173858400-173862000	Enhancers	HSMMtube	muscle
19	chr2:173858400-173869000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:173858600-173861800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:173858600-173862600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:173859200-173863200	Weak transcription	Placenta	Placenta
23	chr2:173859600-173861000	Enhancers	Fetal Stomach	stomach
24	chr2:173859600-173861000	Enhancers	Stomach Mucosa	stomach
25	chr2:173859600-173862000	Enhancers	NHDF-Ad	bronchial
26	chr2:173859600-173862200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:173859800-173862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:173860200-173861200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:173860200-173861800	Enhancers	Hela-S3	cervix
30	chr2:173860200-173862000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:173860200-173862000	Enhancers	HSMM	muscle
32	chr2:173860200-173862200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:173860200-173863800	Enhancers	HMEC	breast
34	chr2:173860200-173864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:173860400-173861000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:173860400-173861000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr2:173860400-173861000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:173860400-173861000	Enhancers	Colon Smooth Muscle	Colon
39	chr2:173860400-173861000	Enhancers	Fetal Heart	heart
40	chr2:173860400-173861200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:173860400-173861400	Enhancers	Fetal Lung	lung
42	chr2:173860400-173861600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:173860400-173861600	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:173860400-173861600	Enhancers	NH-A	brain
45	chr2:173860400-173862000	Enhancers	NHEK	skin
46	chr2:173860400-173862200	Enhancers	Osteobl	bone
47	chr2:173860600-173861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:173860600-173861000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr2:173860600-173861200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:173860600-173861200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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