Variant report

Variant	rs73979180
Chromosome Location	chr2:187300229-187300230
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10170824	0.83[AFR][1000 genomes]
rs10176849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196330	1.00[AMR][1000 genomes]
rs10199530	1.00[AMR][1000 genomes]
rs10206373	1.00[AMR][1000 genomes]
rs10209888	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13395026	1.00[AMR][1000 genomes]
rs13398338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400461	1.00[AMR][1000 genomes]
rs13401340	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13405038	1.00[AMR][1000 genomes]
rs13405248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13408748	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411859	1.00[AMR][1000 genomes]
rs13431396	1.00[AMR][1000 genomes]
rs1375322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16827824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537983	1.00[AMR][1000 genomes]
rs56182722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56384819	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58626242	1.00[AMR][1000 genomes]
rs59403412	1.00[AMR][1000 genomes]
rs73979155	0.83[AFR][1000 genomes]
rs73979166	1.00[AMR][1000 genomes]
rs73979176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868949	chr2:186657142-187327560	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv428067	chr2:187171324-187334779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1005680	chr2:187244500-187320653	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv536080	chr2:187244500-187320653	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1001927	chr2:187264940-187325667	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv997835	chr2:187265730-187327561	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv536081	chr2:187265730-187327561	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 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	chr2:187279800-187300600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:187287200-187300800	Weak transcription	Ovary	ovary
3	chr2:187288600-187301200	Weak transcription	Gastric	stomach
4	chr2:187289200-187300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:187290600-187304200	Weak transcription	Stomach Mucosa	stomach
6	chr2:187291800-187300400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:187291800-187301800	Weak transcription	GM12878-XiMat	blood
8	chr2:187292000-187301200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:187293000-187300400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:187293000-187304400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:187293200-187302600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:187293800-187322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:187294200-187301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:187295400-187302600	Weak transcription	Brain Anterior Caudate	brain
15	chr2:187295600-187302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:187296000-187300600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:187296200-187302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:187296800-187300400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:187297200-187303200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:187297600-187305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:187297800-187331200	Weak transcription	Left Ventricle	heart
22	chr2:187298000-187300400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:187298000-187301800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:187298200-187301200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:187298200-187304400	Weak transcription	Pancreas	Pancrea
26	chr2:187298600-187301000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:187298800-187302000	Strong transcription	Fetal Intestine Large	intestine
28	chr2:187298800-187302200	Weak transcription	Esophagus	oesophagus
29	chr2:187298800-187302600	Weak transcription	Colonic Mucosa	Colon
30	chr2:187299000-187300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:187299000-187301400	Strong transcription	Primary T cells from cord blood	blood
32	chr2:187299000-187301600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:187299200-187300600	Strong transcription	Dnd41	blood
34	chr2:187299200-187300800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:187299200-187300800	Strong transcription	Fetal Stomach	stomach
36	chr2:187299200-187301600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:187299200-187302200	Strong transcription	HepG2	liver
38	chr2:187299400-187300600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:187299400-187301200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:187299400-187301400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:187299600-187300400	Weak transcription	Primary B cells from cord blood	blood
42	chr2:187299600-187302200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:187299600-187319600	Weak transcription	Adipose Nuclei	Adipose
44	chr2:187299600-187322800	Weak transcription	Aorta	Aorta
45	chr2:187299800-187305200	Weak transcription	Liver	Liver
46	chr2:187299800-187305600	Weak transcription	Spleen	Spleen
47	chr2:187300000-187301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:187300000-187301600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:187300200-187305400	ZNF genes & repeats	Fetal Intestine Small	intestine

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