Variant report

Variant	rs2237468
Chromosome Location	chr7:50734362-50734363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50732851..50735812-chr7:50737426..50740683,4	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10261940	0.86[ASN][1000 genomes]
rs11238265	0.83[ASN][1000 genomes]
rs12530592	0.83[ASN][1000 genomes]
rs17133918	0.85[ASN][1000 genomes]
rs17133922	0.86[ASN][1000 genomes]
rs17152120	0.91[YRI][hapmap]
rs2072235	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074723	0.91[YRI][hapmap]
rs2190495	0.86[CHB][hapmap]
rs2237442	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2237448	0.83[ASN][1000 genomes]
rs2237452	0.86[ASN][1000 genomes]
rs2237455	0.86[ASN][1000 genomes]
rs2237457	0.86[ASN][1000 genomes]
rs2237460	0.86[ASN][1000 genomes]
rs2237462	0.85[ASN][1000 genomes]
rs2237465	0.86[ASN][1000 genomes]
rs2237467	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237471	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237472	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237473	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237478	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237479	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237483	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237485	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2244347	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs2282926	0.86[ASN][1000 genomes]
rs2282927	0.86[ASN][1000 genomes]
rs2282928	0.86[ASN][1000 genomes]
rs2282929	0.86[ASN][1000 genomes]
rs2282930	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2529410	0.81[CHB][hapmap]
rs3807547	0.85[ASN][1000 genomes]
rs3819432	0.86[ASN][1000 genomes]
rs3901371	0.83[ASN][1000 genomes]
rs4504586	0.86[ASN][1000 genomes]
rs55830086	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58587127	0.85[ASN][1000 genomes]
rs6593077	0.83[ASN][1000 genomes]
rs737292	0.86[ASN][1000 genomes]
rs757999	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7792550	0.83[ASN][1000 genomes]
rs7792811	0.83[ASN][1000 genomes]
rs7797159	0.83[ASN][1000 genomes]
rs7805310	0.91[YRI][hapmap]
rs886822	0.86[ASN][1000 genomes]
rs886823	0.86[ASN][1000 genomes]
rs9886137	0.83[ASN][1000 genomes]

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
rs2237468	ABCA13	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
6	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
7	chr7:50720600-50739400	Enhancers	Right Atrium	heart
8	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:50723600-50735200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:50725400-50737600	Enhancers	Psoas Muscle	Psoas
12	chr7:50726000-50734600	Strong transcription	Fetal Stomach	stomach
13	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
14	chr7:50726600-50734800	Weak transcription	Fetal Lung	lung
15	chr7:50727200-50734600	Genic enhancers	Pancreas	Pancrea
16	chr7:50727400-50734600	Strong transcription	Fetal Intestine Small	intestine
17	chr7:50727800-50737400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:50728400-50737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50728800-50735400	Weak transcription	Colonic Mucosa	Colon
20	chr7:50729200-50737600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:50729400-50734400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:50729800-50736000	Enhancers	Brain Hippocampus Middle	brain
23	chr7:50729800-50741600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:50730000-50736600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:50730000-50737200	Enhancers	Left Ventricle	heart
26	chr7:50730200-50744000	Weak transcription	Small Intestine	intestine
27	chr7:50730200-50748600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:50730400-50738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:50731000-50734400	Enhancers	Esophagus	oesophagus
30	chr7:50731000-50741400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:50731200-50735400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:50731400-50735200	Weak transcription	Placenta	Placenta
33	chr7:50731400-50737600	Weak transcription	Thymus	Thymus
34	chr7:50731400-50743200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:50731600-50734800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:50731600-50735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:50731600-50735000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:50731600-50735400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:50731600-50735600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:50731800-50734800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:50731800-50734800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:50731800-50735000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:50731800-50735800	Enhancers	HUVEC	blood vessel
44	chr7:50731800-50736600	Enhancers	NHDF-Ad	bronchial
45	chr7:50731800-50750000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:50732000-50737200	Enhancers	Liver	Liver
47	chr7:50732200-50735000	Weak transcription	Gastric	stomach
48	chr7:50732400-50735000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:50732600-50749200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:50733000-50735200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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