Variant report

Variant	rs6978286
Chromosome Location	chr7:116617532-116617533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXP2	chr7:116617289-116617571	SK-N-MC	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	chr7:116616956..116618843-chr7:116623491..116625617,2	K562	blood:
3	chr7:116608803..116612859-chr7:116615821..116619025,5	K562	blood:
4	chr7:116569834..116572713-chr7:116615771..116619319,3	MCF-7	breast:
5	7:115847372-115857098..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
6	chr7:116595788..116597544-chr7:116616683..116619041,2	K562	blood:
7	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
8	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
9	chr7:116617343..116619582-chr7:116622869..116626558,3	K562	blood:
10	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
11	7:116610596-116619447..7:116754962-116765597	GM12878	blood:
12	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
13	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
14	7:115861595-115870968..7:116610596-116619447	GM12878	blood:

No data

Variant related genes	Relation type
TPM3P1	TF binding region
ENSG00000001626	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000077063	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56011846	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470806	1.00[ASN][1000 genomes]
rs73208175	1.00[ASN][1000 genomes]
rs73208183	1.00[ASN][1000 genomes]
rs73210117	1.00[ASN][1000 genomes]
rs73210122	1.00[ASN][1000 genomes]
rs73210188	1.00[ASN][1000 genomes]
rs73210190	1.00[ASN][1000 genomes]
rs73210192	1.00[ASN][1000 genomes]
rs73210195	1.00[ASN][1000 genomes]
rs7785492	0.85[TSI][hapmap]
rs7802141	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6978286	CFTR	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:116597000-116641600	Weak transcription	Ovary	ovary
4	chr7:116598400-116617600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
6	chr7:116600600-116620200	Weak transcription	Lung	lung
7	chr7:116603400-116617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:116607600-116618000	Weak transcription	Spleen	Spleen
9	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:116607600-116632400	Weak transcription	Gastric	stomach
11	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
12	chr7:116609800-116618000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:116610600-116618200	Weak transcription	Stomach Mucosa	stomach
14	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
15	chr7:116610800-116618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:116611000-116619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:116611000-116621400	Weak transcription	Fetal Heart	heart
19	chr7:116611200-116618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart
25	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
26	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
27	chr7:116615200-116621600	Weak transcription	GM12878-XiMat	blood
28	chr7:116615600-116619200	Weak transcription	Fetal Intestine Small	intestine
29	chr7:116616600-116617600	Enhancers	Osteobl	bone
30	chr7:116616600-116618200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:116617000-116618200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:116617000-116618600	Enhancers	NH-A	brain
33	chr7:116617000-116626600	Weak transcription	NHLF	lung
34	chr7:116617200-116617600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:116617200-116617600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:116617200-116617600	Enhancers	HMEC	breast
37	chr7:116617200-116617600	Enhancers	NHEK	skin
38	chr7:116617200-116618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:116617200-116618400	Enhancers	NHDF-Ad	bronchial
40	chr7:116617200-116619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:116617400-116617600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:116617400-116617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:116617400-116617600	Enhancers	Fetal Muscle Leg	muscle
44	chr7:116617400-116617800	Enhancers	HSMMtube	muscle
45	chr7:116617400-116618200	Enhancers	HUVEC	blood vessel
46	chr7:116617400-116618400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:116617400-116619400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:116617400-116619600	Enhancers	K562	blood

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