Variant report

Variant	rs12619417
Chromosome Location	chr2:210167687-210167688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12613105	0.83[ASN][1000 genomes]
rs12613165	0.85[ASN][1000 genomes]
rs12619841	0.83[ASN][1000 genomes]
rs12622639	0.87[ASN][1000 genomes]
rs12623474	0.83[ASN][1000 genomes]
rs1446593	0.85[ASN][1000 genomes]
rs1446594	0.85[ASN][1000 genomes]
rs17725929	0.83[ASN][1000 genomes]
rs17726115	0.83[ASN][1000 genomes]
rs57091157	0.89[ASN][1000 genomes]
rs57237067	0.83[ASN][1000 genomes]
rs57340402	0.82[ASN][1000 genomes]
rs57477937	0.83[ASN][1000 genomes]
rs58527022	0.85[ASN][1000 genomes]
rs59168245	0.83[ASN][1000 genomes]
rs59222491	0.84[ASN][1000 genomes]
rs60124019	0.83[ASN][1000 genomes]
rs61002714	0.83[ASN][1000 genomes]
rs66484761	0.83[ASN][1000 genomes]
rs66889373	0.85[ASN][1000 genomes]
rs6711968	0.85[ASN][1000 genomes]
rs6746759	0.85[ASN][1000 genomes]
rs67685639	0.83[ASN][1000 genomes]
rs73056336	0.87[ASN][1000 genomes]
rs73056341	0.85[ASN][1000 genomes]
rs73056354	0.84[ASN][1000 genomes]
rs73056366	0.85[ASN][1000 genomes]
rs73060554	0.83[ASN][1000 genomes]
rs73060555	0.83[ASN][1000 genomes]
rs73060558	0.83[ASN][1000 genomes]
rs73060559	0.83[ASN][1000 genomes]
rs7578275	0.83[ASN][1000 genomes]
rs7592166	0.83[ASN][1000 genomes]
rs7592320	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210164000-210168200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:210164000-210172200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:210164200-210168200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:210164200-210168200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:210165600-210167800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
6	chr2:210166000-210167800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
7	chr2:210166200-210167800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
8	chr2:210166200-210169000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr2:210166400-210167800	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
10	chr2:210167000-210167800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
11	chr2:210167000-210167800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr2:210167000-210168400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
13	chr2:210167000-210169000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links