Variant report

Variant	rs74051646
Chromosome Location	chr1:9434127-9434128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11121428	1.00[EUR][1000 genomes]
rs11811820	1.00[EUR][1000 genomes]
rs55913306	1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs57585081	1.00[EUR][1000 genomes]
rs60630831	1.00[AMR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	1.00[EUR][1000 genomes]
rs72862732	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72862734	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs74051644	1.00[AMR][1000 genomes]
rs74051648	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1014844	chr1:9326748-9441033	Bivalent/Poised TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870719	chr1:9349938-9441040	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9405000-9435200	Weak transcription	Psoas Muscle	Psoas
2	chr1:9417000-9444800	Weak transcription	Hela-S3	cervix
3	chr1:9422000-9442200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:9426400-9435800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:9428800-9437400	Weak transcription	Liver	Liver
6	chr1:9429600-9438000	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:9429800-9438600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:9430000-9434400	Weak transcription	Gastric	stomach
9	chr1:9430200-9435200	Weak transcription	Right Ventricle	heart
10	chr1:9430400-9435600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:9430400-9435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:9430400-9435800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:9430600-9434200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:9430800-9434600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:9430800-9435200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:9430800-9436400	Weak transcription	Osteobl	bone
17	chr1:9430800-9437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:9431200-9434600	Enhancers	HUVEC	blood vessel
19	chr1:9431400-9434400	Enhancers	Lung	lung
20	chr1:9431600-9434800	Enhancers	Esophagus	oesophagus
21	chr1:9431800-9435600	Weak transcription	NHDF-Ad	bronchial
22	chr1:9431800-9437200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:9432000-9434800	Weak transcription	Fetal Heart	heart
24	chr1:9432000-9435600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:9432000-9435600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:9432200-9435800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:9432400-9434200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:9432400-9435000	Weak transcription	Right Atrium	heart
29	chr1:9432400-9435200	Weak transcription	Left Ventricle	heart
30	chr1:9432400-9435400	Weak transcription	NH-A	brain
31	chr1:9432400-9435800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:9432400-9435800	Weak transcription	HSMM	muscle
33	chr1:9432400-9436600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:9432400-9436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:9432600-9436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:9432600-9436600	Weak transcription	Colonic Mucosa	Colon
37	chr1:9432800-9434200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:9432800-9435200	Weak transcription	Adipose Nuclei	Adipose
39	chr1:9432800-9442200	Weak transcription	Spleen	Spleen
40	chr1:9433000-9435000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:9433000-9435000	Weak transcription	HSMMtube	muscle
42	chr1:9433000-9435400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:9433200-9435400	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:9433200-9437000	Enhancers	Brain Substantia Nigra	brain
45	chr1:9433200-9437800	Enhancers	Brain Hippocampus Middle	brain
46	chr1:9433400-9434200	Enhancers	Fetal Intestine Small	intestine
47	chr1:9433400-9434600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:9433400-9434600	Weak transcription	Ovary	ovary
49	chr1:9433400-9435000	Weak transcription	Aorta	Aorta
50	chr1:9433400-9435200	Weak transcription	Fetal Intestine Large	intestine

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