Variant report

Variant	rs11585733
Chromosome Location	chr1:209808538-209808539
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	chr1:209806336..209810218-chr1:209810896..209813908,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489343	1.00[AFR][1000 genomes]
rs10779514	1.00[AFR][1000 genomes]
rs10779515	1.00[AFR][1000 genomes]
rs10863789	1.00[AFR][1000 genomes]
rs10863790	1.00[AFR][1000 genomes]
rs1109430	1.00[AFR][1000 genomes]
rs11119347	1.00[AFR][1000 genomes]
rs11119348	1.00[AFR][1000 genomes]
rs11589335	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12058100	1.00[AFR][1000 genomes]
rs12064398	1.00[AFR][1000 genomes]
rs12069187	1.00[AFR][1000 genomes]
rs12081405	1.00[AFR][1000 genomes]
rs12405750	1.00[AFR][1000 genomes]
rs12561766	1.00[AFR][1000 genomes]
rs12566152	1.00[AFR][1000 genomes]
rs13306422	1.00[AFR][1000 genomes]
rs17015255	1.00[AFR][1000 genomes]
rs17015268	1.00[AFR][1000 genomes]
rs17388240	1.00[AFR][1000 genomes]
rs1856161	1.00[AFR][1000 genomes]
rs2038053	1.00[AFR][1000 genomes]
rs2076149	1.00[AFR][1000 genomes]
rs2076151	1.00[AFR][1000 genomes]
rs2142860	1.00[AFR][1000 genomes]
rs2235371	1.00[AFR][1000 genomes]
rs2235377	1.00[AFR][1000 genomes]
rs2272866	1.00[AFR][1000 genomes]
rs2282740	1.00[AFR][1000 genomes]
rs3753517	1.00[AFR][1000 genomes]
rs41274836	1.00[AFR][1000 genomes]
rs4844491	1.00[AFR][1000 genomes]
rs4844494	1.00[AFR][1000 genomes]
rs4844893	1.00[AFR][1000 genomes]
rs4844894	1.00[AFR][1000 genomes]
rs57283682	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787400-209816200	Strong transcription	NHEK	skin
2	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
3	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
4	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
5	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
7	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
10	chr1:209801600-209819800	Weak transcription	Lung	lung
11	chr1:209801800-209812000	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr1:209803600-209813200	Strong transcription	Hela-S3	cervix
13	chr1:209804400-209816600	Weak transcription	Small Intestine	intestine
14	chr1:209805200-209809600	Weak transcription	Psoas Muscle	Psoas
15	chr1:209805200-209814600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:209805400-209809600	Weak transcription	Right Atrium	heart
17	chr1:209805400-209814600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:209805400-209814600	Weak transcription	Right Ventricle	heart
19	chr1:209805400-209816200	Weak transcription	Esophagus	oesophagus
20	chr1:209805600-209809600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:209805600-209809800	Weak transcription	Left Ventricle	heart
22	chr1:209805800-209809400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:209806200-209808600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr1:209806200-209813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:209806800-209809800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:209807400-209809200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:209807800-209809800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:209808000-209808800	Enhancers	Fetal Heart	heart
29	chr1:209808000-209809800	Weak transcription	Gastric	stomach
30	chr1:209808000-209809800	Strong transcription	HMEC	breast
31	chr1:209808000-209814400	Weak transcription	Fetal Stomach	stomach
32	chr1:209808000-209816200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:209808200-209808600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr1:209808200-209811000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:209808400-209808600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr1:209808400-209809200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:209808400-209809600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:209808400-209812000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:209808400-209815800	Weak transcription	Colonic Mucosa	Colon

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