Variant report

Variant	rs17189743
Chromosome Location	chr2:54482553-54482554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53993157..53995066-chr2:54480511..54482787,2	K562	blood:
2	chr2:54465360..54468834-chr2:54480824..54482850,3	K562	blood:
3	chr2:54466633..54468348-chr2:54481012..54483338,2	K562	blood:
4	chr2:54340617..54344494-chr2:54480899..54484108,3	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000115239	Chromatin interaction
ENSG00000143942	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1001296	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10181332	1.00[CHB][hapmap]
rs10199041	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10207892	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11125521	1.00[CHB][hapmap]
rs11680886	1.00[CHB][hapmap]
rs11884327	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11891079	1.00[CHB][hapmap]
rs11896279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs13390377	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13414565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs13425337	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17045513	1.00[CHB][hapmap]
rs17045575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17045645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17045755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs17189680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17189799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1872328	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2090182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap]
rs4553857	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6746552	0.93[EUR][1000 genomes]
rs7562908	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7567556	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7567614	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7594400	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7604464	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs965109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv457897	chr2:54459093-54502912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv582012	chr2:54459093-54502912	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1011975	chr2:54475866-54495222	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54452800-54490200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:54456400-54487200	Weak transcription	Psoas Muscle	Psoas
4	chr2:54468400-54492200	Weak transcription	HSMMtube	muscle
5	chr2:54474200-54485600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:54474600-54482600	Weak transcription	Right Ventricle	heart
7	chr2:54474600-54484200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:54477800-54482800	Weak transcription	Pancreas	Pancrea
9	chr2:54479200-54487200	Weak transcription	HepG2	liver
10	chr2:54479200-54489200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:54479600-54482600	Weak transcription	Liver	Liver
12	chr2:54479800-54489200	Weak transcription	Gastric	stomach
13	chr2:54480400-54485400	Weak transcription	Fetal Lung	lung
14	chr2:54480800-54483400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:54481000-54482600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:54481600-54482800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:54481600-54484200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:54481600-54487200	Weak transcription	Spleen	Spleen
20	chr2:54481800-54483200	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54481800-54483600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr2:54482000-54483800	Active TSS	K562	blood
23	chr2:54482200-54482600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:54482200-54482800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:54482200-54482800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54482400-54482600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:54482400-54483400	ZNF genes & repeats	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links