Variant report

Variant	rs757726
Chromosome Location	chr7:70034730-70034731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70029430..70032358-chr7:70034724..70037517,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12531840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12538714	0.83[AMR][1000 genomes]
rs17491493	0.85[AMR][1000 genomes]
rs2189963	0.83[AMR][1000 genomes]
rs2189964	0.85[AMR][1000 genomes]
rs4236238	0.85[AMR][1000 genomes]
rs4492249	0.85[AMR][1000 genomes]
rs4717533	0.85[AMR][1000 genomes]
rs4717534	0.85[AMR][1000 genomes]
rs4718962	0.83[AMR][1000 genomes]
rs740114	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1024524	chr7:70031241-70138924	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs757726	WBSCR17	cis	cerebellum	SCAN
rs757726	WBSCR17	cis	parietal	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70012600-70036800	Weak transcription	Fetal Stomach	stomach
2	chr7:70020000-70036600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:70023600-70038000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:70024000-70046400	Weak transcription	Primary B cells from cord blood	blood
5	chr7:70025400-70035600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:70027600-70039400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:70031000-70036600	Enhancers	Liver	Liver
8	chr7:70031200-70035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:70031200-70035400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:70031200-70036400	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:70031200-70036600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:70031200-70036600	Weak transcription	Brain Substantia Nigra	brain
13	chr7:70032200-70036200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:70032200-70036400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:70032200-70036600	Weak transcription	Fetal Brain Female	brain
16	chr7:70032400-70038800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:70033000-70037400	Weak transcription	Lung	lung
18	chr7:70033600-70035200	Enhancers	Right Atrium	heart
19	chr7:70033600-70035400	Enhancers	HSMM	muscle
20	chr7:70033600-70035400	Enhancers	HSMMtube	muscle
21	chr7:70033600-70035600	Enhancers	Right Ventricle	heart
22	chr7:70033600-70035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:70033600-70035800	Enhancers	Left Ventricle	heart
24	chr7:70033600-70036000	Enhancers	Pancreas	Pancrea
25	chr7:70033600-70036200	Enhancers	Stomach Mucosa	stomach
26	chr7:70033800-70034800	Enhancers	Fetal Brain Male	brain
27	chr7:70033800-70035400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:70033800-70041600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:70034000-70035400	Enhancers	Gastric	stomach
30	chr7:70034000-70035600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:70034000-70035800	Enhancers	Fetal Kidney	kidney
32	chr7:70034000-70041400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:70034000-70048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:70034200-70034800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:70034200-70034800	Enhancers	Fetal Lung	lung
36	chr7:70034200-70035200	Flanking Active TSS	Fetal Heart	heart
37	chr7:70034200-70035400	Enhancers	Ovary	ovary
38	chr7:70034200-70041400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:70034400-70035200	Enhancers	GM12878-XiMat	blood
40	chr7:70034400-70036000	Enhancers	K562	blood
41	chr7:70034400-70036600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:70034400-70037200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:70034600-70034800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr7:70034600-70035400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:70034600-70035600	Weak transcription	Fetal Intestine Large	intestine

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