Variant report

Variant	rs2712806
Chromosome Location	chr11:74858969-74858970
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	EP300	chr11:74858156-74859222	SK-N-SH	brain:	n/a	chr11:74858397-74858410
2	GATA2	chr11:74858060-74858983	SH-SY5Y	brain:	n/a	n/a
3	SPI1	chr11:74858930-74859361	HL-60	blood:	n/a	chr11:74859194-74859207
4	GABPA	chr11:74858931-74859366	HL-60	blood:	n/a	chr11:74859209-74859218 chr11:74859030-74859039
5	GATA1	chr11:74858351-74859055	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74856309..74859040-chr11:74914787..74916343,2	MCF-7	breast:
2	chr11:74853654..74855652-chr11:74858777..74860606,2	K562	blood:

Variant related genes	Relation type
SLCO2B1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10899075	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944615	0.80[ASN][1000 genomes]
rs1944616	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018251	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2156656	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2465290	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712793	0.89[ASN][1000 genomes]
rs2712795	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2712797	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712799	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712800	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2712801	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2712802	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712809	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712811	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2712814	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2712815	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712816	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712817	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712818	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2851065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851070	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851071	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851072	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851075	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2851093	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2851095	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851097	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2851103	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851104	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851105	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2851109	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2851112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs870505	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs870506	0.80[EUR][1000 genomes];0.92[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	nsv526053	chr11:74857436-74861545	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74852000-74861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74852400-74861000	Weak transcription	Stomach Mucosa	stomach
3	chr11:74853800-74860200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:74853800-74862000	Enhancers	HepG2	liver
5	chr11:74853800-74862200	Enhancers	Placenta	Placenta
6	chr11:74854000-74862000	Enhancers	Fetal Intestine Large	intestine
7	chr11:74855200-74862200	Enhancers	Fetal Intestine Small	intestine
8	chr11:74855600-74861200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:74855600-74861600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:74856200-74860200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr11:74856400-74859200	Enhancers	K562	blood
12	chr11:74856400-74859600	Enhancers	Colonic Mucosa	Colon
13	chr11:74856600-74863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:74857000-74859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:74857000-74860000	Enhancers	Adipose Nuclei	Adipose
16	chr11:74857400-74859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
18	chr11:74857600-74859200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:74857800-74859000	Enhancers	Brain Anterior Caudate	brain
20	chr11:74857800-74859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:74857800-74859800	Enhancers	Lung	lung
22	chr11:74857800-74860000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:74857800-74860000	Enhancers	Fetal Muscle Leg	muscle
24	chr11:74858000-74860000	Enhancers	Fetal Thymus	thymus
25	chr11:74858200-74859000	Enhancers	Liver	Liver
26	chr11:74858200-74859000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr11:74858200-74859200	Bivalent Enhancer	Fetal Stomach	stomach
28	chr11:74858200-74859400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:74858200-74859400	Enhancers	Esophagus	oesophagus
30	chr11:74858200-74860000	Enhancers	Spleen	Spleen
31	chr11:74858200-74861400	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:74858400-74859000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:74858400-74859000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:74858400-74859000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:74858400-74859000	Enhancers	Left Ventricle	heart
36	chr11:74858400-74859200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:74858400-74859200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:74858400-74859200	Enhancers	Right Atrium	heart
39	chr11:74858400-74859400	Enhancers	Right Ventricle	heart
40	chr11:74858600-74859400	Enhancers	Fetal Brain Female	brain
41	chr11:74858600-74860000	Enhancers	Brain Hippocampus Middle	brain
42	chr11:74858600-74860400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:74858800-74859000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:74858800-74859200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:74858800-74859400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:74858800-74859800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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