Variant report

Variant	rs6727447
Chromosome Location	chr2:213131261-213131262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10048750	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs10048796	0.85[CHB][hapmap]
rs10048819	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs10172782	0.92[CHB][hapmap]
rs10206443	0.85[CHB][hapmap]
rs1021916	0.85[CHB][hapmap]
rs10932428	0.85[CHB][hapmap]
rs11682936	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs11686852	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs11887771	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs11896691	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs12185587	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs12475565	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs13408933	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs13427258	0.82[CHB][hapmap]
rs13429136	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1357136	1.00[CHB][hapmap]
rs1357138	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1402762	0.84[ASN][1000 genomes]
rs1402764	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1521634	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1521638	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs1521639	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1521641	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1521662	0.93[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.81[ASN][1000 genomes]
rs1546718	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1546719	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs1915747	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs1915748	0.86[CHB][hapmap]
rs1948875	0.85[CHB][hapmap]
rs1949651	1.00[CHB][hapmap]
rs1949652	1.00[CHB][hapmap]
rs1949654	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2030474	0.81[EUR][1000 genomes]
rs4233985	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4350692	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4375810	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4580336	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4638732	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs4672643	0.93[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4673657	0.82[JPT][hapmap]
rs6713657	0.85[CEU][hapmap]
rs6745160	0.87[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs6745249	0.87[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs7561603	0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7570768	0.85[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9288447	0.83[CHB][hapmap]
rs9288449	0.85[CHB][hapmap]
rs939224	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs939226	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs979042	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1001718	chr2:213047033-213155985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004823	chr2:213052804-213181263	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv536138	chr2:213052804-213181263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv1007853	chr2:213087904-213134413	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	nsv460074	chr2:213114645-213151230	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv584347	chr2:213114645-213151230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1011111	chr2:213116621-213178740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv460075	chr2:213117976-213192660	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv584348	chr2:213117976-213192660	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv584349	chr2:213117976-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv460076	chr2:213120523-213165247	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	nsv584350	chr2:213120523-213165247	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	nsv875808	chr2:213120523-213183696	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv460077	chr2:213122718-213165247	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv584351	chr2:213122718-213165247	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv875809	chr2:213122718-213221111	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
26	nsv460078	chr2:213130571-213192660	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv584352	chr2:213130571-213192660	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6727447	ERBB4	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213107800-213134000	Weak transcription	Aorta	Aorta
2	chr2:213115400-213134000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:213129200-213141000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:213129600-213133000	Enhancers	Fetal Heart	heart
5	chr2:213129800-213135400	Weak transcription	Psoas Muscle	Psoas
6	chr2:213130800-213131600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:213131000-213131600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:213131200-213132000	Enhancers	Brain Substantia Nigra	brain
9	chr2:213131200-213133400	Weak transcription	Brain Angular Gyrus	brain

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