Variant report

Variant	rs1385405
Chromosome Location	chr4:94316763-94316764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:94316647..94319679-chr4:94319993..94322842,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10006372	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10018947	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10022753	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10029321	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1032126	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10516919	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11097362	0.86[ASN][1000 genomes]
rs1154861	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11733231	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11943480	0.82[ASN][1000 genomes]
rs1385410	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1433662	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1433663	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1469738	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1485023	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1485033	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17330509	0.85[ASN][1000 genomes]
rs1872383	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1905710	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1905730	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1905732	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2043414	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046418	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2220179	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28404006	0.86[ASN][1000 genomes]
rs2870696	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2870699	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2870702	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2870703	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870704	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2870706	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2904482	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2904483	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3913651	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4693318	0.84[ASN][1000 genomes]
rs4693319	0.85[ASN][1000 genomes]
rs6831478	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6851479	0.86[ASN][1000 genomes]
rs7661436	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7670441	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9996912	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9998683	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	nsv1013255	chr4:94027129-94462345	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2830401	chr4:94141655-94450106	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3584808	chr4:94156602-94559327	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1008055	chr4:94169131-95030074	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv533846	chr4:94264488-94462921	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv931979	chr4:94289958-95121723	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1385405	MMRN1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94315000-94317600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:94315000-94318200	Enhancers	Hela-S3	cervix
3	chr4:94315200-94317600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:94315400-94318200	Enhancers	HUVEC	blood vessel
5	chr4:94315800-94318000	Enhancers	NHEK	skin
6	chr4:94316000-94317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:94316400-94317400	Weak transcription	NH-A	brain
8	chr4:94316400-94318000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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