Variant report

Variant	rs10747457
Chromosome Location	chr1:92036924-92036925
allele	A/G
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]
rs10782964	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2391018	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6689719	0.89[CEU][hapmap]
rs7514544	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7517168	0.97[EUR][1000 genomes]
rs906634	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs925191	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs925192	0.85[AMR][1000 genomes];0.97[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:61 , 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	chr1:92033400-92038200	Enhancers	Fetal Heart	heart
5	chr1:92034600-92037400	Enhancers	NHLF	lung
6	chr1:92034600-92037800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:92034800-92038200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:92034800-92038400	Enhancers	Adipose Nuclei	Adipose
9	chr1:92035000-92037800	Enhancers	Fetal Muscle Leg	muscle
10	chr1:92035000-92038000	Enhancers	Left Ventricle	heart
11	chr1:92035000-92038000	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:92035000-92038200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:92035200-92038000	Enhancers	Lung	lung
14	chr1:92035200-92038200	Enhancers	Placenta	Placenta
15	chr1:92035200-92038200	Enhancers	Spleen	Spleen
16	chr1:92035200-92038400	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:92035400-92037400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr1:92035400-92037400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:92035400-92037600	Enhancers	Colon Smooth Muscle	Colon
20	chr1:92035400-92037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:92035400-92038000	Enhancers	NHDF-Ad	bronchial
22	chr1:92035600-92037000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:92035600-92037400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:92035600-92038600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:92035800-92037000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:92035800-92037200	Weak transcription	Primary T cells from cord blood	blood
27	chr1:92035800-92037200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:92035800-92037200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:92035800-92037200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:92035800-92037400	Weak transcription	Small Intestine	intestine
31	chr1:92035800-92037600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:92035800-92037800	Enhancers	Primary B cells from cord blood	blood
33	chr1:92035800-92040000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:92035800-92040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:92035800-92041400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:92035800-92041600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:92035800-92047600	Weak transcription	Ovary	ovary
38	chr1:92035800-92048200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:92036000-92037400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:92036000-92037600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:92036000-92041400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:92036000-92043800	Weak transcription	A549	lung
43	chr1:92036000-92043800	Weak transcription	K562	blood
44	chr1:92036000-92044600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:92036200-92037200	Weak transcription	Fetal Stomach	stomach
46	chr1:92036200-92037200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:92036200-92037200	Weak transcription	HUVEC	blood vessel
48	chr1:92036200-92037400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:92036200-92039600	Weak transcription	Fetal Lung	lung
50	chr1:92036200-92040200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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