Variant report

Variant	rs11589335
Chromosome Location	chr1:209799855-209799856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:209799780-209799930	GM12867	blood:	n/a	n/a
2	POLR2A	chr1:209798261-209801629	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:209799461-209799986	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209788000..209789545-chr1:209798332..209800305,2	K562	blood:
2	chr1:209799563..209802450-chr1:209813916..209816529,2	K562	blood:
3	chr1:209796724..209798782-chr1:209799341..209801502,3	MCF-7	breast:
4	chr1:209793195..209794900-chr1:209798885..209800894,2	K562	blood:

Variant related genes	Relation type
MIR4260	TF binding region
ENSG00000264831	Chromatin interaction

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]
rs11585733	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209786800-209800000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr1:209787400-209816200	Strong transcription	NHEK	skin
4	chr1:209789000-209802800	Strong transcription	Hela-S3	cervix
5	chr1:209791800-209801400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:209792400-209806400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:209793000-209801600	Enhancers	Ovary	ovary
8	chr1:209793600-209801600	Enhancers	Spleen	Spleen
9	chr1:209793800-209800000	Weak transcription	Lung	lung
10	chr1:209794800-209803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:209795200-209804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:209795600-209800800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:209796000-209800800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr1:209796000-209801000	Weak transcription	Pancreas	Pancrea
15	chr1:209796200-209800800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:209796400-209800200	Strong transcription	Colonic Mucosa	Colon
17	chr1:209796400-209800800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:209796400-209801000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:209797000-209801400	Enhancers	Fetal Heart	heart
20	chr1:209797000-209801600	Enhancers	Right Ventricle	heart
21	chr1:209797200-209800000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:209797800-209801600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr1:209797800-209803200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:209798000-209801400	Enhancers	HSMMtube	muscle
25	chr1:209798000-209805200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:209798200-209800800	Strong transcription	Fetal Stomach	stomach
27	chr1:209798200-209801600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr1:209798400-209800000	Genic enhancers	Fetal Intestine Large	intestine
29	chr1:209798400-209800400	Enhancers	Adipose Nuclei	Adipose
30	chr1:209798400-209801400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:209798400-209801600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:209798400-209801600	Enhancers	Left Ventricle	heart
33	chr1:209798600-209801600	Enhancers	Stomach Smooth Muscle	stomach
34	chr1:209798800-209801200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:209798800-209801200	Enhancers	Fetal Brain Female	brain
36	chr1:209798800-209801600	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:209798800-209801600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:209798800-209801600	Strong transcription	Gastric	stomach
39	chr1:209799000-209800200	Enhancers	Fetal Lung	lung
40	chr1:209799000-209800600	Genic enhancers	Esophagus	oesophagus
41	chr1:209799000-209800600	Enhancers	Right Atrium	heart
42	chr1:209799000-209800800	Enhancers	Brain Substantia Nigra	brain
43	chr1:209799000-209800800	Weak transcription	Osteobl	bone
44	chr1:209799000-209801400	Enhancers	Fetal Brain Male	brain
45	chr1:209799000-209801600	Enhancers	Brain Hippocampus Middle	brain
46	chr1:209799000-209801800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:209799200-209800000	Enhancers	Placenta	Placenta
48	chr1:209799200-209800200	Weak transcription	Psoas Muscle	Psoas
49	chr1:209799200-209800600	Weak transcription	NH-A	brain
50	chr1:209799200-209800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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