Variant report

Variant	rs7785492
Chromosome Location	chr7:116708026-116708027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11771917	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs3864652	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4236605	0.83[ASN][1000 genomes]
rs55840193	0.83[AMR][1000 genomes]
rs60715492	0.81[ASN][1000 genomes]
rs6978286	0.85[TSI][hapmap]
rs7788320	0.81[ASW][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7800379	0.81[ASW][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7785492	CFTR	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116686800-116712400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:116690600-116711600	Weak transcription	K562	blood
3	chr7:116693800-116709000	Weak transcription	Right Atrium	heart
4	chr7:116700400-116709000	Weak transcription	Aorta	Aorta
5	chr7:116702200-116712600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:116702400-116708600	Weak transcription	Pancreas	Pancrea
7	chr7:116702400-116708800	Weak transcription	Left Ventricle	heart
8	chr7:116702400-116711600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:116702400-116711600	Weak transcription	HMEC	breast
10	chr7:116702400-116712800	Weak transcription	Gastric	stomach
11	chr7:116702400-116712800	Weak transcription	HSMMtube	muscle
12	chr7:116702600-116708600	Weak transcription	HSMM	muscle
13	chr7:116703000-116708600	Weak transcription	NH-A	brain
14	chr7:116703000-116712800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:116704800-116708600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:116704800-116712400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:116705200-116708600	Weak transcription	Brain Angular Gyrus	brain
18	chr7:116705800-116708200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:116705800-116709000	Enhancers	GM12878-XiMat	blood
20	chr7:116705800-116709200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:116706000-116708600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:116706000-116708800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:116706200-116708400	Weak transcription	NHEK	skin
24	chr7:116706200-116708600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:116706200-116708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:116706200-116708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:116706200-116708800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:116706200-116711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:116706400-116708600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:116706400-116708800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:116706400-116709000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:116706400-116712600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:116706800-116708200	Enhancers	Osteobl	bone
34	chr7:116706800-116712800	Weak transcription	Lung	lung
35	chr7:116707000-116709000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:116707200-116712600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:116707400-116708400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:116707400-116708600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:116707400-116709000	Enhancers	Brain Germinal Matrix	brain
40	chr7:116707400-116709800	Enhancers	Colon Smooth Muscle	Colon
41	chr7:116707600-116708600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:116707600-116708600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:116707600-116708600	Enhancers	Brain Anterior Caudate	brain
44	chr7:116707600-116712200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:116707800-116708200	Weak transcription	Fetal Heart	heart
46	chr7:116707800-116708600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:116707800-116708600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:116707800-116709200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:116707800-116711800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:116707800-116712400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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