Variant report

Variant	rs1512671
Chromosome Location	chr3:110133031-110133032
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
2	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1040004	1.00[EUR][1000 genomes]
rs10934039	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12330541	1.00[EUR][1000 genomes]
rs1398343	1.00[EUR][1000 genomes]
rs1398350	1.00[EUR][1000 genomes]
rs1398351	1.00[EUR][1000 genomes]
rs1398416	1.00[EUR][1000 genomes]
rs1512513	1.00[EUR][1000 genomes]
rs1512517	1.00[EUR][1000 genomes]
rs1512518	1.00[EUR][1000 genomes]
rs1512664	1.00[EUR][1000 genomes]
rs1512668	1.00[EUR][1000 genomes]
rs1512670	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1512673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1512674	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1512683	1.00[EUR][1000 genomes]
rs1512685	1.00[EUR][1000 genomes]
rs1533207	1.00[EUR][1000 genomes]
rs1533209	1.00[EUR][1000 genomes]
rs1533210	1.00[EUR][1000 genomes]
rs1606372	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1858444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1913098	1.00[EUR][1000 genomes]
rs1949180	1.00[EUR][1000 genomes]
rs1949181	1.00[EUR][1000 genomes]
rs2036968	1.00[EUR][1000 genomes]
rs2137381	1.00[EUR][1000 genomes]
rs2137383	1.00[EUR][1000 genomes]
rs2137417	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2249840	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669092	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669093	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669095	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669096	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669097	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2669098	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712973	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712974	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712975	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712976	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712979	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2712981	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3957568	1.00[EUR][1000 genomes]
rs4682012	1.00[EUR][1000 genomes]
rs4682177	1.00[EUR][1000 genomes]
rs4682593	1.00[EUR][1000 genomes]
rs6437919	1.00[EUR][1000 genomes]
rs6437921	1.00[EUR][1000 genomes]
rs6783722	1.00[EUR][1000 genomes]
rs6784660	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7615412	1.00[EUR][1000 genomes]
rs7652698	1.00[EUR][1000 genomes]
rs963345	1.00[EUR][1000 genomes]
rs970165	1.00[EUR][1000 genomes]
rs9809749	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9819275	1.00[EUR][1000 genomes]
rs9839505	1.00[EUR][1000 genomes]
rs9857432	1.00[EUR][1000 genomes]
rs9868966	1.00[EUR][1000 genomes]
rs9880902	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv460818	chr3:110007205-110155824	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv591272	chr3:110007205-110155824	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv829669	chr3:110022724-110188397	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv460819	chr3:110080893-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv877336	chr3:110083045-110143891	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv470838	chr3:110083045-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv591273	chr3:110087264-110194026	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv877337	chr3:110091627-110186611	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv999414	chr3:110103126-110340180	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110130200-110134800	Enhancers	NHDF-Ad	bronchial
2	chr3:110131400-110135000	Enhancers	HUVEC	blood vessel
3	chr3:110131800-110134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:110132000-110134400	Enhancers	HMEC	breast
5	chr3:110132200-110133200	Enhancers	Adipose Nuclei	Adipose
6	chr3:110132200-110134400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:110132200-110134400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:110132200-110134400	Enhancers	Liver	Liver
9	chr3:110132200-110134400	Enhancers	Hela-S3	cervix
10	chr3:110132200-110134400	Enhancers	NHLF	lung
11	chr3:110132200-110134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:110132200-110134800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:110132200-110134800	Enhancers	HSMM	muscle
14	chr3:110132200-110134800	Enhancers	NHEK	skin
15	chr3:110132400-110134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:110132400-110134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:110132400-110134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:110132600-110133400	Flanking Active TSS	A549	lung
19	chr3:110132600-110133600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:110132600-110133800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:110132600-110133800	Weak transcription	HSMMtube	muscle
22	chr3:110132600-110138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:110132800-110133200	Flanking Active TSS	NH-A	brain
24	chr3:110133000-110133200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:110133000-110133200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:110133000-110133200	Enhancers	Aorta	Aorta
27	chr3:110133000-110133200	Enhancers	Ovary	ovary
28	chr3:110133000-110133200	Flanking Active TSS	Osteobl	bone
29	chr3:110133000-110133400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:110133000-110134400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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