Variant report

Variant	rs11119956
Chromosome Location	chr1:212691850-212691851
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
3	chr1:212681247..212682870-chr1:212690581..212692939,2	K562	blood:
4	chr1:212690257..212692182-chr1:212779999..212783511,3	K562	blood:
5	chr1:212690794..212693307-chr1:212697888..212699429,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10779581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863975	0.80[ASN][1000 genomes]
rs10863978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863979	0.85[EUR][1000 genomes]
rs11119949	0.81[ASN][1000 genomes]
rs11119950	0.81[ASN][1000 genomes]
rs11119951	0.80[ASN][1000 genomes]
rs11119953	0.80[ASN][1000 genomes]
rs11119957	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11119962	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11119963	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11119965	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11119970	0.84[EUR][1000 genomes]
rs11119971	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12030310	0.80[ASN][1000 genomes]
rs12039386	0.85[ASN][1000 genomes]
rs12041940	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12046220	0.84[ASN][1000 genomes]
rs12049168	0.81[ASN][1000 genomes]
rs12143427	0.81[ASN][1000 genomes]
rs12410743	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12569340	0.84[ASN][1000 genomes]
rs4347269	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4951453	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4951602	0.81[ASN][1000 genomes]
rs4951603	0.81[ASN][1000 genomes]
rs4951606	0.83[ASN][1000 genomes]
rs4951607	0.84[ASN][1000 genomes]
rs4951609	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951611	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs510189	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs606996	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs678640	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72649985	0.80[ASN][1000 genomes]
rs72649986	0.80[ASN][1000 genomes]
rs72649988	0.84[ASN][1000 genomes]
rs72649989	0.84[ASN][1000 genomes]
rs72649990	0.85[ASN][1000 genomes]
rs72649991	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649993	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs750227	0.86[ASN][1000 genomes]
rs750228	0.85[ASN][1000 genomes]
rs7553505	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs791561	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 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	chr1:212687800-212692000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:212688000-212692200	Weak transcription	Left Ventricle	heart
3	chr1:212688400-212692000	Weak transcription	Right Atrium	heart
4	chr1:212688400-212692200	Weak transcription	Right Ventricle	heart
5	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:212689000-212692000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:212689000-212692000	Weak transcription	Esophagus	oesophagus
8	chr1:212689000-212695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:212689200-212693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:212689200-212699800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:212689400-212692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:212690200-212692000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:212690400-212692200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:212690600-212694000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:212691000-212694600	Enhancers	Fetal Intestine Large	intestine
16	chr1:212691200-212694200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:212691200-212694800	Enhancers	Fetal Intestine Small	intestine
18	chr1:212691400-212692400	Enhancers	Liver	Liver
19	chr1:212691400-212693400	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:212691600-212692400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:212691600-212692400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:212691600-212692400	Enhancers	Osteobl	bone
23	chr1:212691600-212692600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:212691600-212692600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:212691800-212692000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:212691800-212692000	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:212691800-212692200	Enhancers	Pancreas	Pancrea
28	chr1:212691800-212692200	Enhancers	A549	lung
29	chr1:212691800-212692200	Bivalent Enhancer	NHDF-Ad	bronchial
30	chr1:212691800-212692400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:212691800-212692400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:212691800-212692400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:212691800-212692400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:212691800-212692400	Enhancers	Brain Hippocampus Middle	brain
35	chr1:212691800-212692400	Enhancers	Fetal Heart	heart
36	chr1:212691800-212692400	Flanking Active TSS	HepG2	liver
37	chr1:212691800-212692400	Enhancers	NH-A	brain
38	chr1:212691800-212692600	Enhancers	Fetal Lung	lung
39	chr1:212691800-212692600	Enhancers	Hela-S3	cervix
40	chr1:212691800-212692800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:212691800-212692800	Enhancers	Stomach Mucosa	stomach

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