Variant report

Variant	rs70938126
Chromosome Location	chr17:67042859-67042860
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67037977..67039596-chr17:67041233..67043972,2	K562	blood:
2	chr17:67042180..67045074-chr17:67080026..67082668,2	K562	blood:
3	chr17:67037977..67039650-chr17:67041233..67043368,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10852783	0.84[AMR][1000 genomes]
rs2098104	0.82[EUR][1000 genomes]
rs732012	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
2	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
4	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:67014000-67044200	Weak transcription	Psoas Muscle	Psoas
6	chr17:67024200-67043200	Weak transcription	Fetal Lung	lung
7	chr17:67036800-67043200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:67038800-67043200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:67038800-67043200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:67039000-67043200	Weak transcription	Small Intestine	intestine
11	chr17:67039400-67043400	Weak transcription	Fetal Stomach	stomach
12	chr17:67039400-67043800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr17:67039600-67043200	Weak transcription	Left Ventricle	heart
14	chr17:67039600-67043800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:67039600-67044000	Weak transcription	Gastric	stomach
16	chr17:67039800-67051800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr17:67040000-67043200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:67040000-67044000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:67040200-67043200	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:67040400-67047600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:67041200-67043200	Weak transcription	Ovary	ovary
23	chr17:67041400-67043200	Weak transcription	Adipose Nuclei	Adipose
24	chr17:67041400-67043200	Weak transcription	Liver	Liver
25	chr17:67041400-67046200	Enhancers	HUVEC	blood vessel
26	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:67041600-67043200	Enhancers	HepG2	liver
28	chr17:67041600-67043200	Weak transcription	NHDF-Ad	bronchial
29	chr17:67042200-67043200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:67042200-67043200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr17:67042400-67043200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr17:67042400-67043400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr17:67042400-67043600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr17:67042400-67044400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr17:67042400-67044800	Enhancers	Placenta	Placenta
36	chr17:67042400-67045600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr17:67042400-67045600	Enhancers	Fetal Intestine Small	intestine
38	chr17:67042400-67046200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr17:67042400-67046200	Enhancers	Fetal Intestine Large	intestine
40	chr17:67042600-67043000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:67042600-67043000	Weak transcription	Stomach Mucosa	stomach
42	chr17:67042600-67043200	Active TSS	K562	blood
43	chr17:67042800-67043800	Enhancers	Hela-S3	cervix
44	chr17:67042800-67044000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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