Variant report

Variant	rs1405746
Chromosome Location	chr7:80350927-80350928
allele	G/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:27)

rs_ID	r²[population]
rs10499863	0.83[AFR][1000 genomes]
rs10808255	0.87[AFR][1000 genomes]
rs11770916	0.91[AFR][1000 genomes]
rs12670520	0.99[AFR][1000 genomes]
rs1358338	0.98[AFR][1000 genomes]
rs1358339	0.88[AFR][1000 genomes]
rs1527466	0.91[AFR][1000 genomes]
rs1527469	0.83[AFR][1000 genomes]
rs1527471	0.83[AFR][1000 genomes]
rs1527473	0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs1609151	0.84[AFR][1000 genomes]
rs1918371	0.90[AFR][1000 genomes]
rs1918372	0.89[AFR][1000 genomes]
rs1918373	0.87[AFR][1000 genomes]
rs1918374	0.84[AFR][1000 genomes]
rs1918375	0.85[AFR][1000 genomes]
rs1949970	0.90[AFR][1000 genomes]
rs2222713	0.99[AFR][1000 genomes]
rs2366858	0.95[AFR][1000 genomes]
rs2886791	0.94[AFR][1000 genomes]
rs6467337	0.88[AFR][1000 genomes]
rs6467363	0.91[AFR][1000 genomes]
rs6467371	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs6958863	0.88[AFR][1000 genomes]
rs6963015	0.88[AFR][1000 genomes]
rs6969280	0.86[AFR][1000 genomes]
rs9641897	0.88[AFR][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr7:80342600-80351000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:80348600-80351600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:80348600-80351600	Enhancers	Osteobl	bone
4	chr7:80348600-80352200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:80348600-80353200	Enhancers	NHDF-Ad	bronchial
6	chr7:80348600-80354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:80348600-80354800	Enhancers	HSMMtube	muscle
8	chr7:80348600-80356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80348800-80351400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:80348800-80351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80348800-80352000	Weak transcription	Fetal Brain Male	brain
12	chr7:80349000-80352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:80349600-80351600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:80349600-80353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:80349600-80355200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr7:80349600-80355600	Enhancers	NHLF	lung
17	chr7:80349800-80353600	Enhancers	NHEK	skin
18	chr7:80350000-80351000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:80350200-80351400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:80350400-80351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr7:80350400-80351600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:80350400-80354600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:80350600-80351000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:80350600-80351600	Enhancers	Hela-S3	cervix
25	chr7:80350600-80351600	Enhancers	HSMM	muscle
26	chr7:80350600-80352000	Flanking Active TSS	A549	lung
27	chr7:80350600-80352400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr7:80350600-80354800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:80350600-80355800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:80350800-80351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:80350800-80351400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:80350800-80351600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:80350800-80351800	Enhancers	NH-A	brain
34	chr7:80350800-80352000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:80350800-80352400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:80350800-80354000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:80350800-80354000	Enhancers	Adipose Nuclei	Adipose
38	chr7:80350800-80354000	Enhancers	Fetal Intestine Small	intestine
39	chr7:80350800-80354200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:80350800-80354200	Enhancers	HMEC	breast
41	chr7:80350800-80354600	Enhancers	Fetal Intestine Large	intestine
42	chr7:80350800-80354800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:80350800-80354800	Enhancers	Colon Smooth Muscle	Colon

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