Variant report

Variant	rs9988483
Chromosome Location	chr1:67196286-67196287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10889643	0.87[YRI][hapmap]
rs2025596	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2872078	0.87[YRI][hapmap]
rs4655650	0.82[YRI][hapmap]
rs491854	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs547926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs569827	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs604737	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs609219	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs623421	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6656912	0.82[YRI][hapmap]
rs6689864	0.87[YRI][hapmap]
rs7524851	0.85[YRI][hapmap]
rs9662943	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67165400-67206800	Weak transcription	Fetal Brain Male	brain
3	chr1:67171400-67198000	Weak transcription	NHLF	lung
4	chr1:67184800-67199400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:67186400-67205000	Weak transcription	Fetal Heart	heart
6	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:67190200-67201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:67191800-67204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:67191800-67204800	Weak transcription	Lung	lung
10	chr1:67192000-67197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:67192000-67204600	Weak transcription	Aorta	Aorta
12	chr1:67192000-67204800	Weak transcription	Left Ventricle	heart
13	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:67192200-67204600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:67192200-67208200	Weak transcription	Brain Substantia Nigra	brain
17	chr1:67192400-67204200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:67193000-67199600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:67193200-67197800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:67193800-67199600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:67194000-67197400	Weak transcription	Osteobl	bone
22	chr1:67194200-67196800	Weak transcription	NHDF-Ad	bronchial
23	chr1:67194200-67198000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:67194200-67198200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:67194800-67197800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:67195000-67196600	Enhancers	Fetal Thymus	thymus
27	chr1:67195200-67198000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:67195200-67198000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:67195400-67196600	Enhancers	HUVEC	blood vessel
30	chr1:67195400-67196800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:67195400-67198200	Weak transcription	Primary T cells from cord blood	blood
32	chr1:67195400-67198400	Weak transcription	NHEK	skin
33	chr1:67195400-67198600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:67195400-67198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:67195400-67199800	Enhancers	Dnd41	blood
36	chr1:67195600-67197200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:67195800-67196600	Strong transcription	Fetal Brain Female	brain
38	chr1:67195800-67197600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr1:67196000-67196600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:67196000-67196800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:67196000-67197000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:67196000-67197000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:67196000-67197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:67196200-67196600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:67196200-67196600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:67196200-67196800	Enhancers	Thymus	Thymus
47	chr1:67196200-67197000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr1:67196200-67197000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:67196200-67197000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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