Variant report

Variant	rs17792131
Chromosome Location	chr2:85733192-85733193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85721306..85734455-chr2:85761299..85769531,43	K562	blood:
2	chr2:85645483..85647774-chr2:85732613..85735796,4	MCF-7	breast:
3	chr2:85728122..85729629-chr2:85731841..85734729,2	K562	blood:
4	chr2:85731894..85733463-chr2:85739808..85742655,2	K562	blood:
5	chr2:85728478..85734662-chr2:85763857..85768220,13	MCF-7	breast:
6	chr2:85731450..85735055-chr2:85743773..85747296,3	K562	blood:
7	chr2:85722180..85736122-chr2:85762661..85770266,54	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000152292	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12463705	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12465420	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12468473	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470070	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12470640	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12471036	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12473357	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12473382	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17026447	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17026452	1.00[CEU][hapmap]
rs2028106	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2028899	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6704863	0.83[EUR][1000 genomes]
rs68055751	1.00[EUR][1000 genomes]
rs72843836	0.83[EUR][1000 genomes]
rs72843839	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72843846	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72844407	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844409	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844415	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844416	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844417	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844418	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844421	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72844445	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85726000-85735000	Enhancers	NHDF-Ad	bronchial
2	chr2:85726400-85734400	Enhancers	A549	lung
3	chr2:85727800-85733200	Enhancers	HUVEC	blood vessel
4	chr2:85729200-85733200	Enhancers	Stomach Mucosa	stomach
5	chr2:85729400-85733200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:85729400-85733200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:85729400-85733200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:85729400-85733200	Enhancers	Placenta	Placenta
9	chr2:85729400-85733200	Enhancers	Left Ventricle	heart
10	chr2:85729400-85733200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:85729400-85735000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:85729600-85733200	Enhancers	Fetal Muscle Leg	muscle
13	chr2:85729600-85733400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:85729600-85733400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:85729600-85733600	Enhancers	Adipose Nuclei	Adipose
16	chr2:85729600-85733600	Enhancers	HMEC	breast
17	chr2:85729600-85734600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:85729600-85734600	Enhancers	Osteobl	bone
19	chr2:85729800-85733200	Enhancers	Colonic Mucosa	Colon
20	chr2:85729800-85735000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:85729800-85738000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:85730000-85733200	Enhancers	Brain Substantia Nigra	brain
23	chr2:85730000-85733400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:85730000-85733400	Enhancers	Right Ventricle	heart
25	chr2:85730000-85734600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:85730000-85735000	Enhancers	NHLF	lung
27	chr2:85730400-85733200	Enhancers	Esophagus	oesophagus
28	chr2:85730400-85733600	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:85730400-85734600	Enhancers	HSMMtube	muscle
30	chr2:85730600-85733200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:85730600-85733600	Enhancers	Small Intestine	intestine
32	chr2:85730600-85733600	Enhancers	NH-A	brain
33	chr2:85730600-85738000	Weak transcription	Spleen	Spleen
34	chr2:85731200-85733200	Genic enhancers	Fetal Intestine Small	intestine
35	chr2:85731200-85733200	Enhancers	Right Atrium	heart
36	chr2:85731400-85733200	Bivalent Enhancer	HepG2	liver
37	chr2:85731400-85733400	Enhancers	NHEK	skin
38	chr2:85731400-85733800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr2:85731400-85734600	Enhancers	HSMM	muscle
40	chr2:85731400-85735200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:85731600-85734400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:85731800-85733200	Enhancers	Lung	lung
43	chr2:85732000-85733200	Flanking Active TSS	Hela-S3	cervix
44	chr2:85732000-85738600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr2:85732400-85734200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:85732400-85738600	Weak transcription	Pancreas	Pancrea
47	chr2:85732400-85742600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:85732400-85743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:85732400-85744200	Weak transcription	Gastric	stomach
50	chr2:85732600-85733200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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