Variant report

Variant	rs7149947
Chromosome Location	chr14:32939877-32939878
allele	A/G
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	chr14:32939552-32939956	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr14:32937960-32940059	SK-N-SH	brain:	n/a	chr14:32938896-32938903
3	TCF12	chr14:32939108-32939974	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr14:32937166-32940019	SK-N-SH	brain:	n/a	chr14:32938800-32938819 chr14:32938240-32938247 chr14:32938346-32938353
5	POLR2A	chr14:32939650-32939911	H1-neurons	neurons:	n/a	n/a
6	PBX3	chr14:32939429-32939993	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr14:32938106-32939965	SK-N-SH	brain:	n/a	chr14:32938896-32938903

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32938979..32940480-chr14:32942478..32945273,2	K562	blood:

Variant related genes	Relation type
AKAP6	TF binding region
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10130628	0.91[CHB][hapmap]
rs1951189	0.90[YRI][hapmap]
rs1957020	1.00[YRI][hapmap]
rs1957021	0.86[ASN][1000 genomes]
rs1957022	0.82[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap]
rs2145594	0.90[ASN][1000 genomes]
rs3784191	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs3784193	0.81[ASN][1000 genomes]
rs6571522	0.88[ASN][1000 genomes]
rs6571523	0.88[ASN][1000 genomes]
rs6571524	0.88[ASN][1000 genomes]
rs6571525	0.86[ASN][1000 genomes]
rs7143943	0.87[ASN][1000 genomes]
rs7146377	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs7157869	0.90[CHB][hapmap]
rs8013186	0.89[CHB][hapmap]
rs9285570	0.82[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9972146	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7149947	ARHGAP5	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32931000-32941400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:32936200-32942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:32936200-32942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:32936400-32943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:32936400-32944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:32936600-32941800	Enhancers	HMEC	breast
7	chr14:32936800-32941200	Enhancers	Brain Anterior Caudate	brain
8	chr14:32936800-32942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:32936800-32944000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:32937400-32941800	Enhancers	Hela-S3	cervix
11	chr14:32937600-32940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:32937600-32941200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:32937600-32941200	Enhancers	HSMMtube	muscle
14	chr14:32937600-32941400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:32937800-32940000	Enhancers	Osteobl	bone
16	chr14:32937800-32940800	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:32937800-32941400	Enhancers	HSMM	muscle
18	chr14:32937800-32941600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:32937800-32941600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:32938000-32941200	Enhancers	Brain Hippocampus Middle	brain
21	chr14:32938000-32941600	Enhancers	Fetal Heart	heart
22	chr14:32938000-32947800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:32938200-32943600	Enhancers	Rectal Smooth Muscle	rectum
24	chr14:32938400-32940000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:32938400-32940400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:32938400-32940600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:32938400-32941400	Enhancers	Brain Substantia Nigra	brain
28	chr14:32938600-32940800	Weak transcription	NHDF-Ad	bronchial
29	chr14:32938600-32941000	Weak transcription	Aorta	Aorta
30	chr14:32938600-32941000	Weak transcription	A549	lung
31	chr14:32938600-32941200	Weak transcription	NH-A	brain
32	chr14:32938600-32941400	Weak transcription	Fetal Lung	lung
33	chr14:32938800-32940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:32938800-32940800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:32938800-32941400	Enhancers	NHEK	skin
36	chr14:32939000-32940000	Enhancers	Fetal Muscle Leg	muscle
37	chr14:32939200-32940000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:32939200-32941400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:32939200-32942600	Enhancers	Brain Germinal Matrix	brain
40	chr14:32939400-32940600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:32939400-32940600	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:32939400-32944800	Enhancers	Brain Angular Gyrus	brain
43	chr14:32939600-32940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:32939600-32940800	Weak transcription	Psoas Muscle	Psoas
45	chr14:32939600-32941000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:32939600-32941200	Weak transcription	Left Ventricle	heart
47	chr14:32939600-32941600	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:32939800-32941000	Weak transcription	Placenta	Placenta

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