Variant report

Variant	rs11768003
Chromosome Location	chr7:107948138-107948139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10234922	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs10262724	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11561991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1158324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1159697	0.86[CEU][hapmap]
rs11768790	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12055979	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12540012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1269662	0.81[MEX][hapmap]
rs12705451	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13236767	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17155428	0.84[CEU][hapmap]
rs2052313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2193241	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2193242	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2300021	0.88[AMR][1000 genomes]
rs6973159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6973336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7787926	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7794854	0.83[AMR][1000 genomes]
rs9656147	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1019059	chr7:107935905-107995523	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1021783	chr7:107935905-107998281	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv2761354	chr7:107935905-107998293	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv1031824	chr7:107935905-108006038	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1017288	chr7:107939739-108000837	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107925400-107952000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:107932000-107950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:107935400-107950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:107940400-107964400	Weak transcription	Pancreas	Pancrea
5	chr7:107943000-107948400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:107943200-107948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107945400-107953800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:107945600-107954000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:107945800-107952600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:107945800-107954000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:107945800-107956000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:107947000-107949000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:107947000-107949400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:107947000-107953800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:107947200-107948600	Enhancers	Fetal Brain Male	brain
16	chr7:107947200-107948800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:107947200-107951400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:107947400-107951000	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:107947600-107948200	Enhancers	Brain Angular Gyrus	brain
20	chr7:107947600-107948400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:107947600-107948400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:107947600-107948400	Enhancers	Esophagus	oesophagus
23	chr7:107947600-107949000	Enhancers	HSMM	muscle
24	chr7:107947600-107949200	Enhancers	NHEK	skin
25	chr7:107947600-107949400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:107947600-107949800	Enhancers	Brain Substantia Nigra	brain
27	chr7:107947600-107950200	Enhancers	A549	lung
28	chr7:107947600-107950800	Enhancers	Brain Anterior Caudate	brain
29	chr7:107947600-107951600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:107947600-107952600	Enhancers	HSMMtube	muscle
31	chr7:107947600-107953400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:107947600-107953800	Enhancers	HMEC	breast
33	chr7:107947600-107954000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:107947600-107955200	Enhancers	HUVEC	blood vessel
35	chr7:107947800-107949000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:107947800-107949400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:107947800-107953400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:107948000-107949200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:107948000-107951600	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:107948000-107952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:107948000-107965200	Weak transcription	Brain Inferior Temporal Lobe	brain

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