Variant report

Variant	rs963161
Chromosome Location	chr7:50695317-50695318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50694887-50695367	K562	blood:	n/a	n/a

Variant related genes	Relation type
GRB10	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11575404	1.00[ASW][hapmap]
rs11770199	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11772525	0.82[JPT][hapmap]
rs1468451	0.92[ASN][1000 genomes]
rs2329485	1.00[JPT][hapmap]
rs2329486	1.00[JPT][hapmap]
rs2715129	1.00[JPT][hapmap]
rs4947714	1.00[JPT][hapmap]
rs55990920	0.92[ASN][1000 genomes]
rs62447517	0.92[ASN][1000 genomes]
rs7810039	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs963161	AKAP7	trans	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
4	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
5	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:50681200-50699800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:50682200-50699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:50682400-50695400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:50682400-50695600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:50682400-50695800	Weak transcription	NHLF	lung
12	chr7:50682600-50695400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:50682600-50695400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:50682600-50695800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:50682600-50698200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:50682600-50699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:50682600-50700400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:50682600-50704600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:50682800-50698800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:50683000-50695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:50683000-50700400	Weak transcription	A549	lung
23	chr7:50683400-50695800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:50683400-50699600	Weak transcription	Colonic Mucosa	Colon
25	chr7:50683600-50700400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:50684000-50695400	Weak transcription	HepG2	liver
27	chr7:50684200-50698400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:50684600-50695400	Weak transcription	HSMM	muscle
29	chr7:50684600-50695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:50684800-50695800	Weak transcription	Fetal Intestine Large	intestine
31	chr7:50685200-50700800	Weak transcription	Osteobl	bone
32	chr7:50685800-50695800	Weak transcription	Fetal Lung	lung
33	chr7:50686600-50695400	Weak transcription	Placenta	Placenta
34	chr7:50687400-50700600	Enhancers	Fetal Heart	heart
35	chr7:50687800-50697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:50688400-50700600	Weak transcription	K562	blood
37	chr7:50689000-50699000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:50689200-50697200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:50689200-50700400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:50691200-50696800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr7:50691200-50697200	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:50691600-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:50691800-50695800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:50692800-50695400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr7:50693000-50696000	Strong transcription	Liver	Liver
46	chr7:50693200-50695400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:50693200-50695400	Strong transcription	Adipose Nuclei	Adipose
48	chr7:50693200-50695600	Strong transcription	Lung	lung
49	chr7:50693600-50700800	Weak transcription	NHDF-Ad	bronchial
50	chr7:50693600-50705400	Weak transcription	NH-A	brain

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