Variant report

Variant	rs11679593
Chromosome Location	chr2:112807464-112807465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112806759..112810398-chr2:112810456..112813604,4	K562	blood:

Variant related genes	Relation type
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10169022	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10176660	0.85[ASN][1000 genomes]
rs10176769	0.93[ASN][1000 genomes]
rs10192728	0.86[ASN][1000 genomes]
rs10207301	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679125	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680463	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11681063	0.81[EUR][1000 genomes]
rs11684321	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684476	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11685190	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11690440	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11897014	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12995767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13001162	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003919	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13006228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020304	0.81[EUR][1000 genomes]
rs13024271	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13025651	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34128716	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34240639	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34527376	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34593596	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34875611	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35382200	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35643003	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35757708	0.83[EUR][1000 genomes]
rs3811633	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3811634	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4575728	0.86[ASN][1000 genomes]
rs4848238	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4848241	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4848958	0.84[ASN][1000 genomes]
rs4848971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848973	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848975	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4848979	0.92[ASN][1000 genomes]
rs4848980	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6704665	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6722814	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72829613	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7578435	0.80[EUR][1000 genomes]
rs7586558	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs870761	0.81[EUR][1000 genomes]
rs870763	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112803200-112811200	Weak transcription	Fetal Stomach	stomach
2	chr2:112804400-112811000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:112804600-112811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:112805600-112811200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:112805600-112811200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:112805600-112811400	Weak transcription	Right Ventricle	heart
7	chr2:112805600-112811600	Weak transcription	Aorta	Aorta
8	chr2:112805600-112811600	Weak transcription	Gastric	stomach
9	chr2:112805800-112811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:112806000-112811400	Weak transcription	Right Atrium	heart
11	chr2:112806200-112811000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:112806200-112811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:112806400-112810800	Weak transcription	K562	blood
14	chr2:112806400-112811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:112806400-112811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:112806400-112811000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:112806400-112811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:112806400-112811000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:112806400-112811000	Weak transcription	Fetal Heart	heart
20	chr2:112806400-112811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:112806400-112811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:112806400-112811200	Weak transcription	Brain Anterior Caudate	brain
23	chr2:112807000-112807600	Active TSS	HepG2	liver
24	chr2:112807000-112808000	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:112807000-112811000	Weak transcription	NHDF-Ad	bronchial
26	chr2:112807200-112807600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:112807200-112807800	Enhancers	Colonic Mucosa	Colon
28	chr2:112807200-112808200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:112807200-112808600	Enhancers	Fetal Intestine Small	intestine
30	chr2:112807200-112808600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:112807200-112808600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr2:112807400-112809000	Enhancers	Fetal Intestine Large	intestine

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