Variant report

Variant	rs12646270
Chromosome Location	chr4:90857479-90857480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90856349..90858314-chr4:90859079..90860878,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10433954	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10433955	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10516850	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10516851	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10516852	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10516853	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12640573	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs12640925	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12640973	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12641781	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12643823	0.87[ASN][1000 genomes]
rs12644375	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1442131	0.83[ASN][1000 genomes]
rs1442132	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs16996201	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs17016274	0.82[CEU][hapmap]
rs17016373	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17016396	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2241884	0.87[ASN][1000 genomes]
rs3775464	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3775465	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3775466	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3775467	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3775473	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3775474	0.86[ASN][1000 genomes]
rs3775476	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs3775477	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs3775478	1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs56146644	0.83[ASN][1000 genomes]
rs57175349	0.84[ASN][1000 genomes]
rs58514521	0.83[ASN][1000 genomes]
rs58930449	0.91[ASN][1000 genomes]
rs59345481	0.82[ASN][1000 genomes]
rs60847430	0.83[ASN][1000 genomes]
rs61160271	0.87[ASN][1000 genomes]
rs61611959	0.87[ASN][1000 genomes]
rs6532197	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs6532200	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs67212195	0.97[ASN][1000 genomes]
rs6837483	0.91[ASN][1000 genomes]
rs6838943	0.83[ASN][1000 genomes]
rs6857668	0.82[ASN][1000 genomes]
rs6858182	0.84[ASN][1000 genomes]
rs72657800	0.83[ASN][1000 genomes]
rs72657801	0.83[ASN][1000 genomes]
rs72657802	0.83[ASN][1000 genomes]
rs72659403	0.83[ASN][1000 genomes]
rs72659404	0.83[ASN][1000 genomes]
rs72659409	0.86[ASN][1000 genomes]
rs72659413	0.91[ASN][1000 genomes]
rs73831856	0.84[ASN][1000 genomes]
rs7666981	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv997700	chr4:90791866-90920021	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv830005	chr4:90799398-90963420	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1003903	chr4:90831805-90947922	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1011876	chr4:90851535-90952723	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv998230	chr4:90854555-90952723	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12646270	MMRN1	cis	Nerve Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90854000-90867000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:90854600-90858400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:90855000-90872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:90856000-90861400	Strong transcription	HUVEC	blood vessel
5	chr4:90856400-90867000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:90856800-90878200	Weak transcription	Primary hematopoietic stem cells	blood

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