Variant report

Variant	rs74132932
Chromosome Location	chr1:180499703-180499704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180497440..180500935-chr1:180506480..180510504,4	K562	blood:
2	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:
3	chr1:180498180..180501073-chr1:180520862..180523498,2	MCF-7	breast:
4	chr1:180491568..180494207-chr1:180499661..180501962,2	MCF-7	breast:
5	chr1:180470507..180472649-chr1:180497010..180499983,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135847	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57391210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59462319	1.00[AMR][1000 genomes]
rs60089269	1.00[EUR][1000 genomes]
rs60421690	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60929760	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74132935	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
3	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
4	chr1:180494200-180502200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
7	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
8	chr1:180495000-180502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
12	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart
13	chr1:180497000-180502400	Weak transcription	Fetal Heart	heart
14	chr1:180497000-180502600	Weak transcription	K562	blood
15	chr1:180497600-180500200	Enhancers	HUVEC	blood vessel
16	chr1:180497800-180511200	Weak transcription	Aorta	Aorta
17	chr1:180498000-180500000	Enhancers	HSMMtube	muscle
18	chr1:180498200-180499800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:180498200-180502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:180498400-180500200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:180498800-180500200	Enhancers	HMEC	breast
22	chr1:180499200-180499800	Enhancers	Fetal Intestine Small	intestine
23	chr1:180499200-180500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:180499200-180500000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:180499200-180500000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:180499200-180500000	Enhancers	Esophagus	oesophagus
27	chr1:180499200-180500000	Enhancers	A549	lung
28	chr1:180499200-180500000	Enhancers	HepG2	liver
29	chr1:180499200-180500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:180499200-180500200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:180499200-180500200	Enhancers	Adipose Nuclei	Adipose
32	chr1:180499200-180500200	Enhancers	Hela-S3	cervix
33	chr1:180499200-180500200	Enhancers	NHEK	skin
34	chr1:180499200-180500600	Enhancers	Placenta	Placenta
35	chr1:180499400-180499800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:180499400-180499800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:180499400-180499800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:180499400-180499800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:180499400-180500000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr1:180499400-180500000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:180499400-180500000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:180499400-180500000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:180499400-180500000	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:180499400-180500000	Enhancers	Osteobl	bone
45	chr1:180499400-180500200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:180499600-180499800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:180499600-180499800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr1:180499600-180500000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:180499600-180500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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