Variant report

Variant	rs73979138
Chromosome Location	chr2:187171946-187171947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10177972	1.00[AMR][1000 genomes]
rs10188241	1.00[AMR][1000 genomes]
rs12463482	1.00[AMR][1000 genomes]
rs1349155	1.00[AMR][1000 genomes]
rs1349156	1.00[AMR][1000 genomes]
rs1375320	1.00[AMR][1000 genomes]
rs1442432	1.00[AMR][1000 genomes]
rs1448853	1.00[AMR][1000 genomes]
rs1448864	1.00[AMR][1000 genomes]
rs1451879	1.00[AMR][1000 genomes]
rs1823298	1.00[AMR][1000 genomes]
rs1992931	1.00[AMR][1000 genomes]
rs2084487	1.00[AMR][1000 genomes]
rs4667096	1.00[AMR][1000 genomes]
rs55745344	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58477403	1.00[AMR][1000 genomes]
rs59528603	1.00[AMR][1000 genomes]
rs59701674	1.00[AMR][1000 genomes]
rs61318824	1.00[AMR][1000 genomes]
rs6434178	1.00[AMR][1000 genomes]
rs6723903	1.00[AMR][1000 genomes]
rs6727428	1.00[AMR][1000 genomes]
rs6740754	1.00[AMR][1000 genomes]
rs6741234	1.00[AMR][1000 genomes]
rs6759051	1.00[AMR][1000 genomes]
rs73979110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979131	1.00[AMR][1000 genomes]
rs73979143	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979174	1.00[AMR][1000 genomes]
rs73979189	1.00[AMR][1000 genomes]
rs73979269	1.00[AMR][1000 genomes]
rs73980876	1.00[AMR][1000 genomes]
rs73980888	1.00[AMR][1000 genomes]
rs73980898	1.00[AMR][1000 genomes]
rs7558856	1.00[AMR][1000 genomes]
rs967425	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875545	chr2:186566024-187280164	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817325	chr2:186625679-187200841	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	nsv932296	chr2:186737443-187265790	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1014726	chr2:187036909-187213113	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv536078	chr2:187036909-187213113	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1006411	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv536079	chr2:187150025-187291081	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187168000-187172400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187168000-187173000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:187168400-187172400	Weak transcription	NHEK	skin
4	chr2:187169600-187172400	Weak transcription	HepG2	liver
5	chr2:187170600-187173800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:187170800-187173600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:187170800-187174000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:187171000-187174000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:187171200-187173400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:187171200-187173400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:187171200-187173800	Enhancers	Fetal Intestine Large	intestine
12	chr2:187171400-187179400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:187171600-187172000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:187171800-187172000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:187171800-187172200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:187171800-187174000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:187171800-187174800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:187171800-187175200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links