Variant report

Variant	rs17116476
Chromosome Location	chr1:97611987-97611988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1399287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1399288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116155	1.00[AMR][1000 genomes]
rs17116509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116539	1.00[AFR][1000 genomes]

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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97563600-97619200	Weak transcription	Dnd41	blood
2	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:97585600-97621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:97597400-97619600	Weak transcription	Liver	Liver
5	chr1:97604000-97620000	Weak transcription	Pancreas	Pancrea
6	chr1:97604400-97614800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:97604400-97629000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:97604600-97614000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:97606200-97626600	Weak transcription	Ovary	ovary
10	chr1:97607400-97612600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:97608800-97612000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:97608800-97612000	Enhancers	HMEC	breast
13	chr1:97608800-97612200	Enhancers	Brain Anterior Caudate	brain
14	chr1:97608800-97612200	Enhancers	NHDF-Ad	bronchial
15	chr1:97608800-97612400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:97609000-97612000	Enhancers	NHLF	lung
17	chr1:97609200-97612000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:97609200-97612800	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:97609200-97627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:97609400-97612000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:97609400-97612400	Enhancers	HUVEC	blood vessel
22	chr1:97609800-97612000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:97609800-97612600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:97610000-97614000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:97610200-97612200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:97610200-97614000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:97610400-97612200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:97610400-97613200	Strong transcription	Primary T cells from cord blood	blood
29	chr1:97610600-97612600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:97610600-97613600	Enhancers	Brain Substantia Nigra	brain
31	chr1:97611000-97612000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:97611000-97612200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:97611000-97612200	Enhancers	NH-A	brain
34	chr1:97611000-97612200	Enhancers	Osteobl	bone
35	chr1:97611200-97612000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:97611200-97613200	Enhancers	Brain Germinal Matrix	brain
37	chr1:97611400-97612200	Enhancers	Brain Angular Gyrus	brain
38	chr1:97611400-97612200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:97611400-97613400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:97611400-97613600	Enhancers	Brain Hippocampus Middle	brain
41	chr1:97611600-97612200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr1:97611600-97615000	Weak transcription	HSMM	muscle
43	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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