Variant report

Variant	rs10166792
Chromosome Location	chr2:20777149-20777150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644778..20652349-chr2:20775724..20782509,25	MCF-7	breast:
2	chr2:20775386..20780947-chr2:20790998..20795393,7	K562	blood:
3	chr2:20771832..20774645-chr2:20774771..20777739,3	K562	blood:
4	chr2:20645631..20648021-chr2:20775459..20777167,2	MCF-7	breast:
5	chr2:20524878..20527369-chr2:20777130..20779274,2	K562	blood:
6	chr2:20761404..20763660-chr2:20776835..20779050,2	K562	blood:
7	chr2:20672376..20674639-chr2:20775107..20777593,2	MCF-7	breast:
8	chr2:20768883..20770506-chr2:20776488..20778619,2	MCF-7	breast:
9	chr2:20776319..20778530-chr2:20816686..20818367,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228950	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000231948	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10177787	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177834	0.82[JPT][hapmap]
rs10190705	0.96[ASN][1000 genomes]
rs10195324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10195722	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10200207	0.95[ASN][1000 genomes]
rs11096676	0.85[ASN][1000 genomes]
rs11096677	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123781	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691255	0.96[ASN][1000 genomes]
rs11897611	0.90[ASN][1000 genomes]
rs12472478	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12621527	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13013281	0.80[JPT][hapmap]
rs13031724	0.80[JPT][hapmap]
rs13032956	0.82[JPT][hapmap]
rs13422371	0.96[ASN][1000 genomes]
rs16987857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16987878	0.89[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs16987880	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs16987884	0.91[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs2882035	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882036	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4666315	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666426	0.85[ASN][1000 genomes]
rs4666427	0.85[ASN][1000 genomes]
rs4666429	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666430	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4666431	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4666436	0.80[JPT][hapmap]
rs55835545	0.88[ASN][1000 genomes]
rs56129345	0.94[ASN][1000 genomes]
rs59169527	0.83[ASN][1000 genomes]
rs6715159	0.82[JPT][hapmap]
rs6722960	0.82[JPT][hapmap]
rs72782365	0.93[ASN][1000 genomes]
rs72782367	0.86[ASN][1000 genomes]
rs72782368	0.88[ASN][1000 genomes]
rs766474	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs921599	0.87[JPT][hapmap]
rs921601	0.88[ASN][1000 genomes]
rs921602	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20764400-20778200	Enhancers	HepG2	liver
2	chr2:20765600-20780800	Enhancers	Adipose Nuclei	Adipose
3	chr2:20765800-20786200	Enhancers	HUVEC	blood vessel
4	chr2:20766800-20780800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:20766800-20781000	Enhancers	Left Ventricle	heart
6	chr2:20767000-20781000	Enhancers	Right Atrium	heart
7	chr2:20767400-20778200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:20767800-20778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:20767800-20782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:20768600-20777200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:20769400-20780000	Enhancers	Fetal Intestine Large	intestine
12	chr2:20769800-20781000	Enhancers	Fetal Muscle Leg	muscle
13	chr2:20771600-20777200	Weak transcription	Psoas Muscle	Psoas
14	chr2:20771600-20777400	Weak transcription	Small Intestine	intestine
15	chr2:20772600-20781000	Enhancers	Placenta	Placenta
16	chr2:20772600-20785800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:20772800-20779400	Weak transcription	Liver	Liver
18	chr2:20772800-20780800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:20773000-20777800	Weak transcription	Pancreas	Pancrea
20	chr2:20773000-20781000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20773400-20781200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:20773600-20780000	Enhancers	Spleen	Spleen
23	chr2:20773600-20780200	Enhancers	Fetal Heart	heart
24	chr2:20773600-20781000	Enhancers	Lung	lung
25	chr2:20774000-20777800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:20774000-20777800	Weak transcription	HSMM	muscle
27	chr2:20774000-20778400	Weak transcription	Fetal Kidney	kidney
28	chr2:20774200-20777400	Weak transcription	Osteobl	bone
29	chr2:20774400-20777200	Weak transcription	Esophagus	oesophagus
30	chr2:20774400-20777400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:20774400-20777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:20774400-20777600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:20774400-20778400	Weak transcription	HSMMtube	muscle
34	chr2:20774600-20777200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:20774600-20777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:20774600-20777200	Weak transcription	NHDF-Ad	bronchial
37	chr2:20774600-20781000	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:20774800-20777600	Weak transcription	Brain Angular Gyrus	brain
39	chr2:20774800-20777600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:20774800-20777800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:20775000-20777200	Weak transcription	NH-A	brain
42	chr2:20775000-20778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:20775200-20777200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:20775200-20778800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:20775200-20780800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr2:20775200-20781000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:20775400-20777200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:20775400-20777200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:20775400-20777600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:20775400-20777800	Weak transcription	Colon Smooth Muscle	Colon

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