Variant report

Variant	rs11196764
Chromosome Location	chr10:116252408-116252409
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	USF1	chr10:116252350-116252763	SK-N-SH	brain:	n/a	chr10:116252658-116252671
2	USF1	chr10:116252355-116252824	ECC-1	luminal epithelium:	n/a	chr10:116252658-116252671
3	RUNX3	chr10:116252336-116252845	GM12878	blood:	n/a	n/a
4	REST	chr10:116252012-116252700	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr10:116252111-116252592	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr10:116252125-116252584	H1-neurons	neurons:	n/a	n/a
7	JUND	chr10:116251663-116252656	SK-N-SH	brain:	n/a	chr10:116251940-116251949 chr10:116251939-116251948 chr10:116251938-116251950
8	USF1	chr10:116252348-116252938	HCT-116	colon:	n/a	chr10:116252658-116252671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116245877..116247978-chr10:116251219..116253992,2	MCF-7	breast:

Variant related genes	Relation type
ABLIM1	TF binding region
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11196758	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11196766	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11196768	0.85[CEU][hapmap];0.90[AMR][1000 genomes]
rs1923285	0.82[MEX][hapmap]
rs2475224	1.00[CEU][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2475225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2475227	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2475233	0.84[JPT][hapmap]
rs2497679	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2497688	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497706	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs34374858	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3802737	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7912323	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs941852	0.82[CHD][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes]
rs9421175	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][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	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116214600-116263600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:116222200-116264400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr10:116225000-116267200	Weak transcription	Aorta	Aorta
4	chr10:116225600-116278800	Weak transcription	HSMM	muscle
5	chr10:116243000-116286200	Weak transcription	Spleen	Spleen
6	chr10:116245000-116258800	Weak transcription	Colonic Mucosa	Colon
7	chr10:116247000-116255200	Weak transcription	Fetal Kidney	kidney
8	chr10:116248000-116258200	Weak transcription	Fetal Intestine Large	intestine
9	chr10:116249600-116264800	Weak transcription	Pancreas	Pancrea
10	chr10:116249800-116252800	Strong transcription	Liver	Liver
11	chr10:116249800-116259400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:116250000-116256600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:116250000-116256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr10:116250000-116256600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:116250000-116258400	Weak transcription	Fetal Intestine Small	intestine
16	chr10:116250000-116259400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:116250200-116256600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:116250200-116256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:116250200-116264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr10:116250200-116265200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:116250400-116252800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:116250800-116253000	Enhancers	Ovary	ovary
23	chr10:116251000-116252600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:116251000-116252600	Genic enhancers	HepG2	liver
25	chr10:116251000-116253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:116251000-116253200	Enhancers	Fetal Lung	lung
27	chr10:116251000-116253200	Enhancers	Fetal Muscle Leg	muscle
28	chr10:116251000-116253200	Enhancers	Stomach Mucosa	stomach
29	chr10:116251000-116259000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr10:116251200-116253000	Enhancers	HMEC	breast
31	chr10:116251400-116252600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr10:116251400-116252600	Enhancers	Brain Angular Gyrus	brain
33	chr10:116251400-116252600	Enhancers	Brain Hippocampus Middle	brain
34	chr10:116251400-116252600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr10:116251400-116252600	Enhancers	Gastric	stomach
36	chr10:116251400-116252600	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:116251400-116252800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr10:116251400-116253000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr10:116251400-116253200	Enhancers	Thymus	Thymus
40	chr10:116251400-116253600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr10:116251400-116254600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:116251400-116258400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr10:116251400-116259200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:116251600-116252600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:116251600-116252600	Enhancers	Fetal Brain Male	brain
46	chr10:116251600-116252800	Enhancers	Right Atrium	heart
47	chr10:116251600-116253000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:116251600-116253000	Enhancers	Adipose Nuclei	Adipose
49	chr10:116251600-116253000	Enhancers	Fetal Heart	heart
50	chr10:116251600-116253000	Enhancers	Right Ventricle	heart

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