Variant report

Variant	rs17139280
Chromosome Location	chr7:18552222-18552223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17139283	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs801767	1.00[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	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18542000-18553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:18543000-18554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:18545600-18554200	Weak transcription	Fetal Brain Female	brain
4	chr7:18549000-18554400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:18549000-18557000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:18549000-18557400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:18549000-18560000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:18549000-18561600	Weak transcription	Brain Substantia Nigra	brain
9	chr7:18549200-18553000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:18549200-18553000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:18549200-18553000	Weak transcription	Left Ventricle	heart
12	chr7:18549200-18560200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:18549400-18552400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:18549400-18553000	Weak transcription	Psoas Muscle	Psoas
15	chr7:18549400-18554400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:18549600-18552800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:18549600-18552800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:18549600-18553200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:18550000-18552800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:18550000-18553000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:18550000-18557200	Weak transcription	Right Atrium	heart
22	chr7:18550000-18560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:18550000-18560200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:18550200-18557400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:18550400-18554400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:18550400-18554600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:18550400-18554600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:18550600-18554800	Weak transcription	Fetal Heart	heart
29	chr7:18550600-18560000	Weak transcription	HSMMtube	muscle
30	chr7:18550800-18554200	Weak transcription	Osteobl	bone
31	chr7:18551200-18552400	Weak transcription	NHDF-Ad	bronchial
32	chr7:18551200-18553000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:18551200-18554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:18551200-18554800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:18551200-18560000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:18551400-18552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:18551400-18554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:18551400-18554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:18551400-18557200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:18551400-18568400	Weak transcription	Aorta	Aorta
41	chr7:18551600-18553000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr7:18551600-18554400	Weak transcription	NHEK	skin
43	chr7:18551600-18560200	Weak transcription	HMEC	breast
44	chr7:18551800-18554200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:18551800-18554400	Weak transcription	NH-A	brain
46	chr7:18551800-18559000	Weak transcription	Primary B cells from cord blood	blood
47	chr7:18552200-18554800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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