Variant report

Variant	rs11675147
Chromosome Location	chr2:134327168-134327169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10194140	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680585	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11680590	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13000827	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017903	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13412991	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.92[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16826437	0.86[CHB][hapmap]
rs16826512	0.91[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs1897433	0.86[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1897434	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60546774	0.81[ASN][1000 genomes]
rs6705688	0.82[CHB][hapmap]
rs6708174	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876204	0.91[CHB][hapmap]
rs978097	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv516644	chr2:134301130-134391214	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134324400-134327200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:134324400-134329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:134324600-134328600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:134324600-134329600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:134324600-134330400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:134325000-134330000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:134325000-134342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:134325200-134329000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:134325400-134331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:134326000-134327200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:134326000-134327600	Enhancers	Fetal Heart	heart
12	chr2:134326000-134328200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:134326200-134327200	Enhancers	Fetal Intestine Small	intestine
14	chr2:134326200-134329600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:134326200-134329800	Weak transcription	Esophagus	oesophagus
16	chr2:134326200-134337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:134326400-134327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:134326400-134327200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:134326400-134327200	Enhancers	Fetal Stomach	stomach
20	chr2:134326400-134327200	Enhancers	NHDF-Ad	bronchial
21	chr2:134326400-134327200	Enhancers	NHLF	lung
22	chr2:134326400-134327400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:134326400-134327400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr2:134326400-134327400	Enhancers	Fetal Lung	lung
25	chr2:134326400-134327400	Enhancers	NH-A	brain
26	chr2:134326400-134328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:134326400-134328200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:134326400-134328800	Enhancers	Fetal Kidney	kidney
29	chr2:134326400-134329800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:134326400-134330400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:134326400-134331800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:134326400-134331800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:134326400-134332400	Weak transcription	Right Atrium	heart
34	chr2:134326400-134334200	Weak transcription	Liver	Liver
35	chr2:134326400-134336200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:134326400-134337000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:134326600-134327200	Enhancers	Brain Substantia Nigra	brain
38	chr2:134326600-134327200	Enhancers	Fetal Brain Male	brain
39	chr2:134326600-134328200	Weak transcription	Fetal Intestine Large	intestine
40	chr2:134326600-134328400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:134326600-134331000	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:134326600-134331800	Weak transcription	HUVEC	blood vessel
43	chr2:134326600-134334000	Weak transcription	NHEK	skin
44	chr2:134326600-134334200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:134326600-134334600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:134326600-134336000	Weak transcription	Brain Anterior Caudate	brain
47	chr2:134326600-134344200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:134326800-134327200	Enhancers	Left Ventricle	heart
49	chr2:134326800-134327400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:134326800-134332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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