Variant report

Variant	rs7196770
Chromosome Location	chr16:79674472-79674473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79672405..79675476-chr16:79684615..79687240,3	MCF-7	breast:
2	chr16:79669312..79671959-chr16:79673803..79675378,2	K562	blood:
3	chr16:79673720..79676616-chr16:79676975..79679637,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12599059	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12933824	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12934717	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35941061	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67361426	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7193129	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72808503	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9923929	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9935017	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7196770	CNTNAP4	cis	cerebellum	SCAN
rs7196770	CFDP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79666400-79682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:79668600-79674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:79672400-79675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:79672800-79674600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr16:79673200-79674600	Enhancers	Primary hematopoietic stem cells	blood
6	chr16:79673200-79674600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:79673400-79674600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr16:79673400-79674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:79673400-79674600	Enhancers	Brain Germinal Matrix	brain
10	chr16:79673400-79674800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr16:79673400-79675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:79673400-79675400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr16:79673400-79675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:79673400-79676400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:79673600-79674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:79673600-79674600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:79673600-79674600	Enhancers	Gastric	stomach
18	chr16:79673600-79674800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:79673600-79674800	Enhancers	Stomach Mucosa	stomach
20	chr16:79673600-79674800	Enhancers	A549	lung
21	chr16:79673600-79675000	Enhancers	HMEC	breast
22	chr16:79673600-79675200	Enhancers	Esophagus	oesophagus
23	chr16:79673600-79675200	Enhancers	Spleen	Spleen
24	chr16:79673600-79675400	Enhancers	Fetal Muscle Leg	muscle
25	chr16:79673600-79677200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:79673800-79674600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr16:79673800-79674600	Enhancers	HSMMtube	muscle
28	chr16:79673800-79674800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:79674000-79674800	Enhancers	Fetal Brain Male	brain
30	chr16:79674000-79674800	Enhancers	Fetal Muscle Trunk	muscle
31	chr16:79674000-79675600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr16:79674400-79674600	Enhancers	Fetal Lung	lung
33	chr16:79674400-79674600	Enhancers	HSMM	muscle
34	chr16:79674400-79674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:79674400-79674800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr16:79674400-79675000	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr16:79674400-79675000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:79674400-79675000	Flanking Active TSS	NHEK	skin
39	chr16:79674400-79675200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:79674400-79675200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr16:79674400-79675200	Enhancers	NH-A	brain
42	chr16:79674400-79675400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:79674400-79675400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:79674400-79675800	Enhancers	Fetal Stomach	stomach
45	chr16:79674400-79686400	Weak transcription	Fetal Thymus	thymus

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