Variant report

Variant	rs13006877
Chromosome Location	chr2:178984328-178984329
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	MAFK	chr2:178984269-178985035	HepG2	liver:	n/a	chr2:178984779-178984790 chr2:178984778-178984792 chr2:178984930-178984940
2	MAFK	chr2:178984318-178984572	Hela-S3	cervix:	n/a	n/a
3	MAFK	chr2:178984292-178984601	IMR90	lung:	n/a	n/a
4	MAFF	chr2:178984286-178984965	HepG2	liver:	n/a	chr2:178984445-178984463
5	MAFF	chr2:178984309-178984948	K562	blood:	n/a	chr2:178984445-178984463
6	MAFK	chr2:178984291-178984955	HepG2	liver:	n/a	chr2:178984779-178984790 chr2:178984778-178984792 chr2:178984930-178984940
7	MAFK	chr2:178984296-178984590	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178982755..178985967-chr2:178987271..178990939,3	K562	blood:

Variant related genes	Relation type
RBM45	TF binding region
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1025446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930827	0.80[MEX][hapmap]
rs12613853	0.90[JPT][hapmap];0.80[MEX][hapmap]
rs12617847	0.84[JPT][hapmap]
rs12619532	0.84[JPT][hapmap]
rs1435572	0.84[JPT][hapmap]
rs16866111	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16866116	0.89[JPT][hapmap]
rs2276622	0.90[JPT][hapmap]
rs2366366	0.90[JPT][hapmap];0.80[MEX][hapmap]
rs334058	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583739	chr2:178942302-178993562	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13006877	GPR155	cis	cerebellum	SCAN
rs13006877	FKBP7	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-178986600	Weak transcription	Left Ventricle	heart
2	chr2:178978000-178989200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:178978000-178996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:178978000-178996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:178978000-179001000	Weak transcription	Lung	lung
6	chr2:178978000-179002200	Weak transcription	Esophagus	oesophagus
7	chr2:178978000-179003200	Weak transcription	Spleen	Spleen
8	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
9	chr2:178978000-179016400	Weak transcription	Gastric	stomach
10	chr2:178978200-178985400	Weak transcription	Fetal Thymus	thymus
11	chr2:178978200-178986200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:178978200-178986600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:178978200-178986800	Weak transcription	Psoas Muscle	Psoas
14	chr2:178978200-178990200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:178978200-178997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:178978200-179002800	Weak transcription	Fetal Stomach	stomach
17	chr2:178978400-178986200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:178978400-178986400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:178978400-178986400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:178978400-178986600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:178978400-178986600	Weak transcription	Ovary	ovary
22	chr2:178978400-178988200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:178978400-178988200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:178978400-178988800	Weak transcription	HUVEC	blood vessel
25	chr2:178978400-178990000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:178978400-178990200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:178978400-178991800	Weak transcription	Colonic Mucosa	Colon
28	chr2:178978400-178997400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:178978400-179001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:178978400-179001400	Weak transcription	Brain Substantia Nigra	brain
31	chr2:178978400-179001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:178978400-179001800	Weak transcription	Brain Angular Gyrus	brain
33	chr2:178978600-178984400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:178978600-178985600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:178978600-178986400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:178978600-178986400	Weak transcription	Fetal Kidney	kidney
37	chr2:178978600-178986600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:178978600-178986600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:178978600-178986600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:178978600-178987000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:178978600-178987600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:178978600-178989200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:178978600-178989600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:178978600-178990200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:178978600-178996000	Weak transcription	Stomach Mucosa	stomach
46	chr2:178978600-178998400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:178978600-179001800	Weak transcription	Hela-S3	cervix
48	chr2:178978600-179003000	Weak transcription	Right Ventricle	heart
49	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
50	chr2:178978800-178984800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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