Variant report

Variant	rs10782964
Chromosome Location	chr1:92036268-92036269
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:8)

rs_ID	r²[population]
rs10747457	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2391018	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.98[EUR][1000 genomes]
rs6689719	0.89[CEU][hapmap]
rs7514544	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7517168	0.99[EUR][1000 genomes]
rs906634	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes]
rs925191	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs925192	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]

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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92031000-92037400	Weak transcription	Colonic Mucosa	Colon
2	chr1:92031200-92037400	Weak transcription	Fetal Thymus	thymus
3	chr1:92032200-92040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:92033400-92036400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:92033400-92038200	Enhancers	Fetal Heart	heart
6	chr1:92034600-92036400	Enhancers	NHEK	skin
7	chr1:92034600-92037400	Enhancers	NHLF	lung
8	chr1:92034600-92037800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:92034800-92036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:92034800-92036800	Enhancers	Psoas Muscle	Psoas
11	chr1:92034800-92038200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:92034800-92038400	Enhancers	Adipose Nuclei	Adipose
13	chr1:92035000-92036400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:92035000-92036400	Enhancers	NH-A	brain
15	chr1:92035000-92036600	Enhancers	Right Atrium	heart
16	chr1:92035000-92037800	Enhancers	Fetal Muscle Leg	muscle
17	chr1:92035000-92038000	Enhancers	Left Ventricle	heart
18	chr1:92035000-92038000	Enhancers	Stomach Smooth Muscle	stomach
19	chr1:92035000-92038200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:92035200-92036400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:92035200-92038000	Enhancers	Lung	lung
22	chr1:92035200-92038200	Enhancers	Placenta	Placenta
23	chr1:92035200-92038200	Enhancers	Spleen	Spleen
24	chr1:92035200-92038400	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:92035400-92036400	Enhancers	HSMM	muscle
26	chr1:92035400-92037400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:92035400-92037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:92035400-92037600	Enhancers	Colon Smooth Muscle	Colon
29	chr1:92035400-92037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:92035400-92038000	Enhancers	NHDF-Ad	bronchial
31	chr1:92035600-92036600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:92035600-92037000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:92035600-92037400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:92035600-92038600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr1:92035800-92036400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:92035800-92036800	Weak transcription	Esophagus	oesophagus
37	chr1:92035800-92036800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:92035800-92036800	Weak transcription	Right Ventricle	heart
39	chr1:92035800-92037000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:92035800-92037200	Weak transcription	Primary T cells from cord blood	blood
41	chr1:92035800-92037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:92035800-92037200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:92035800-92037200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:92035800-92037400	Weak transcription	Small Intestine	intestine
45	chr1:92035800-92037600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:92035800-92037800	Enhancers	Primary B cells from cord blood	blood
47	chr1:92035800-92040000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr1:92035800-92040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:92035800-92041400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:92035800-92041600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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