Variant report

Variant	rs4760655
Chromosome Location	chr12:48294131-48294132
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48293184..48294886-chr12:48297131..48299471,2	K562	blood:
2	chr12:48293928..48294822-chr12:48455472..48456360,4	MCF-7	breast:
3	chr12:48263903..48264738-chr12:48293957..48294663,3	MCF-7	breast:
4	chr12:48293420..48296418-chr12:48372974..48374777,2	K562	blood:
5	chr12:48286982..48288519-chr12:48291804..48294615,2	K562	blood:
6	chr12:48293988..48295006-chr12:48357019..48358128,7	MCF-7	breast:
7	chr12:48293537..48295353-chr12:48342553..48343953,18	MCF-7	breast:
8	chr12:48292355..48294336-chr12:48414292..48417246,2	MCF-7	breast:
9	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
10	chr12:48293987..48294746-chr12:48342749..48343852,8	MCF-7	breast:
11	chr12:48254834..48256905-chr12:48293937..48296372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134291	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10083198	0.87[ASN][1000 genomes]
rs10747527	0.95[CHB][hapmap];0.85[AMR][1000 genomes]
rs10783219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783221	0.85[CHB][hapmap]
rs10875699	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11568820	0.81[JPT][hapmap]
rs12304110	0.85[ASN][1000 genomes]
rs4237855	0.81[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4334089	0.81[JPT][hapmap]
rs4578458	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4578459	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4760603	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4760669	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4760670	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4760672	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6580644	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6580645	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7132324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7299460	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7312286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7965397	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7970314	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
4	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
5	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
6	chr12:48288400-48294200	Weak transcription	Fetal Thymus	thymus
7	chr12:48288400-48294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:48290800-48294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48290800-48294400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48290800-48294400	Weak transcription	HSMM	muscle
11	chr12:48290800-48296400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:48291000-48297000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:48291400-48294200	Weak transcription	Hela-S3	cervix
15	chr12:48291400-48294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:48291400-48294400	Weak transcription	Pancreas	Pancrea
17	chr12:48291400-48297000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:48292400-48294200	Weak transcription	Osteobl	bone
19	chr12:48293000-48296800	Enhancers	Fetal Intestine Large	intestine
20	chr12:48293000-48297200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:48293200-48294200	Genic enhancers	HMEC	breast
22	chr12:48293200-48294800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:48293200-48295800	Enhancers	Primary T cells from cord blood	blood
24	chr12:48293200-48297000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:48293400-48294200	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:48293400-48294400	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:48293400-48294600	Genic enhancers	NHEK	skin
32	chr12:48293400-48294600	Strong transcription	NHLF	lung
33	chr12:48293400-48294800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:48293400-48295200	Genic enhancers	Fetal Intestine Small	intestine
35	chr12:48293400-48296400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:48293400-48296400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:48293400-48297200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
39	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:48293400-48297600	Enhancers	Lung	lung
41	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr12:48293400-48298400	Enhancers	Gastric	stomach
45	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
46	chr12:48293600-48294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:48293600-48294200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
48	chr12:48293600-48294400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:48293600-48294400	Weak transcription	Spleen	Spleen
50	chr12:48293600-48294800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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