Variant report

Variant	rs11206835
Chromosome Location	chr1:56991040-56991041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10443239	0.88[ASN][1000 genomes]
rs10493211	1.00[JPT][hapmap]
rs10789026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11206831	1.00[JPT][hapmap]
rs11206832	1.00[JPT][hapmap]
rs11206834	0.88[ASN][1000 genomes]
rs11206838	1.00[JPT][hapmap]
rs11576602	1.00[JPT][hapmap]
rs11582172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12134109	1.00[JPT][hapmap]
rs12402226	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406517	1.00[JPT][hapmap]
rs1572057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2404717	0.88[ASN][1000 genomes]
rs3738570	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3927762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7528118	1.00[JPT][hapmap]
rs7551402	1.00[JPT][hapmap]
rs8016	1.00[JPT][hapmap]
rs869934	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56976400-56991600	Strong transcription	Fetal Stomach	stomach
3	chr1:56976800-56992400	Weak transcription	Brain Germinal Matrix	brain
4	chr1:56977800-56991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:56977800-56999200	Weak transcription	A549	lung
6	chr1:56978000-56991400	Weak transcription	Fetal Brain Male	brain
7	chr1:56978000-56992600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:56979200-56992600	Strong transcription	HepG2	liver
9	chr1:56980600-56991600	Genic enhancers	Left Ventricle	heart
10	chr1:56983200-56991200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr1:56983200-56991400	Strong transcription	Osteobl	bone
12	chr1:56983200-56992400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:56983400-56992200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:56983600-56991200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:56983800-56991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:56984200-56992000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:56984200-56992200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:56984200-56992400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:56985000-56993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:56985000-56993600	Weak transcription	Fetal Brain Female	brain
22	chr1:56985400-56991400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:56986000-56991600	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:56986200-56992600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:56986800-56992000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:56987000-56991400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:56987000-56991800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
29	chr1:56987400-56991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:56987600-56994200	Enhancers	Dnd41	blood
31	chr1:56987800-56993000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:56988400-56991600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:56988400-56992800	Enhancers	Right Atrium	heart
34	chr1:56988400-56993800	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:56988800-56991200	Weak transcription	Psoas Muscle	Psoas
36	chr1:56988800-56991800	Weak transcription	Stomach Mucosa	stomach
37	chr1:56988800-56992000	Weak transcription	Fetal Heart	heart
38	chr1:56988800-56992200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:56989000-56991200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:56989000-56991200	Weak transcription	HUVEC	blood vessel
41	chr1:56989000-56991400	Strong transcription	Aorta	Aorta
42	chr1:56989400-56991400	Enhancers	GM12878-XiMat	blood
43	chr1:56989400-56993600	Enhancers	Primary B cells from cord blood	blood
44	chr1:56989600-56991200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:56989600-56991200	Strong transcription	Fetal Lung	lung
46	chr1:56989600-56992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:56989800-56992400	Weak transcription	NH-A	brain
48	chr1:56990000-56991200	Weak transcription	Esophagus	oesophagus
49	chr1:56990000-56991200	Weak transcription	HSMMtube	muscle
50	chr1:56990000-56992600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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