Variant report

Variant	rs801761
Chromosome Location	chr7:18559527-18559528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1365892	1.00[EUR][1000 genomes]
rs1427488	1.00[EUR][1000 genomes]
rs1559952	1.00[EUR][1000 genomes]
rs213265	1.00[EUR][1000 genomes]
rs213266	1.00[EUR][1000 genomes]
rs213267	1.00[EUR][1000 genomes]
rs213268	1.00[EUR][1000 genomes]
rs213277	1.00[EUR][1000 genomes]
rs213278	1.00[EUR][1000 genomes]
rs58218896	1.00[EUR][1000 genomes]
rs58844869	1.00[EUR][1000 genomes]
rs7804740	1.00[EUR][1000 genomes]
rs801757	0.90[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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887812	chr7:18548719-18622368	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats	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	chr7:18549000-18560000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:18549000-18561600	Weak transcription	Brain Substantia Nigra	brain
3	chr7:18549200-18560200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:18550000-18560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:18550000-18560200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:18550600-18560000	Weak transcription	HSMMtube	muscle
7	chr7:18551200-18560000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:18551400-18568400	Weak transcription	Aorta	Aorta
9	chr7:18551600-18560200	Weak transcription	HMEC	breast
10	chr7:18553400-18569600	Weak transcription	Left Ventricle	heart
11	chr7:18555200-18560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:18555200-18560000	Weak transcription	NHEK	skin
13	chr7:18555200-18560200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:18555200-18561600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:18555200-18561800	Weak transcription	Brain Angular Gyrus	brain
16	chr7:18555200-18580800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:18555400-18560000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:18555400-18560000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:18555400-18560000	Weak transcription	Fetal Heart	heart
20	chr7:18555400-18560000	Weak transcription	Osteobl	bone
21	chr7:18555400-18560200	Weak transcription	NH-A	brain
22	chr7:18555400-18566200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:18555800-18560000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:18556000-18559800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:18556200-18560400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:18556200-18575600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:18557400-18559800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:18557400-18560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:18557400-18561800	Weak transcription	Brain Anterior Caudate	brain
30	chr7:18557600-18560200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:18557600-18560200	Weak transcription	Fetal Brain Female	brain
32	chr7:18557600-18561600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:18557600-18561600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:18557600-18565400	Weak transcription	Psoas Muscle	Psoas
35	chr7:18558200-18560200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:18558200-18561600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:18558400-18560000	Weak transcription	Fetal Brain Male	brain
38	chr7:18558400-18560200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr7:18558400-18560200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:18558600-18560200	Weak transcription	GM12878-XiMat	blood
41	chr7:18559000-18559600	Enhancers	NHDF-Ad	bronchial
42	chr7:18559000-18560000	Enhancers	Primary B cells from cord blood	blood
43	chr7:18559200-18562600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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