Variant report

Variant	rs752729
Chromosome Location	chr2:173913855-173913856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173913769..173915858-chr2:173923685..173926368,2	K562	blood:
2	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
3	chr2:173913477..173915718-chr2:173932935..173935387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12619395	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623346	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1345008	1.00[AFR][1000 genomes]
rs16861227	0.95[ASN][1000 genomes]
rs17760587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769202	1.00[AFR][1000 genomes]
rs6710789	1.00[AFR][1000 genomes]
rs73019627	0.95[ASN][1000 genomes]
rs7425411	1.00[AFR][1000 genomes]
rs7562681	0.95[ASN][1000 genomes]
rs7567603	1.00[AFR][1000 genomes]
rs7603458	0.95[ASN][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
2	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:173904400-173921400	Weak transcription	Ovary	ovary
4	chr2:173908600-173916800	Enhancers	Fetal Intestine Large	intestine
5	chr2:173908600-173921400	Weak transcription	Left Ventricle	heart
6	chr2:173908800-173914400	Weak transcription	Liver	Liver
7	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:173909000-173916800	Enhancers	Fetal Intestine Small	intestine
9	chr2:173909800-173915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:173909800-173915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:173911800-173918200	Weak transcription	Fetal Heart	heart
12	chr2:173912000-173914600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:173912200-173914400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:173912600-173914400	Enhancers	NHEK	skin
15	chr2:173912600-173914400	Enhancers	NHLF	lung
16	chr2:173912800-173914200	Enhancers	NH-A	brain
17	chr2:173912800-173914200	Enhancers	NHDF-Ad	bronchial
18	chr2:173912800-173914200	Enhancers	Osteobl	bone
19	chr2:173912800-173914400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:173912800-173914800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:173912800-173915200	Enhancers	HepG2	liver
22	chr2:173912800-173915600	Enhancers	Stomach Mucosa	stomach
23	chr2:173912800-173916000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:173912800-173917000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:173913000-173914200	Enhancers	HSMMtube	muscle
26	chr2:173913000-173914400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:173913000-173914800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:173913000-173915000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:173913000-173915200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173913000-173915200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:173913000-173915200	Enhancers	Rectal Smooth Muscle	rectum
32	chr2:173913000-173915200	Enhancers	HSMM	muscle
33	chr2:173913000-173917000	Enhancers	Colon Smooth Muscle	Colon
34	chr2:173913200-173914400	Weak transcription	Small Intestine	intestine
35	chr2:173913400-173914000	Enhancers	GM12878-XiMat	blood
36	chr2:173913400-173914400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:173913400-173914400	Enhancers	Fetal Muscle Leg	muscle
38	chr2:173913400-173914600	Weak transcription	Fetal Lung	lung
39	chr2:173913600-173914000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:173913600-173914000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:173913600-173914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:173913600-173914400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:173913600-173914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:173913600-173914400	Active TSS	A549	lung
45	chr2:173913600-173914600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:173913600-173916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:173913600-173916800	Enhancers	HMEC	breast
48	chr2:173913800-173914000	Flanking Active TSS	HUVEC	blood vessel
49	chr2:173913800-173914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:173913800-173914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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