Variant report

Variant	rs11575544
Chromosome Location	chr7:50530762-50530763
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	chr7:50530045..50531842-chr7:50534711..50537256,2	K562	blood:
2	chr7:50517207..50520150-chr7:50528801..50531186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1002371	0.81[ASN][1000 genomes]
rs10224094	0.88[ASN][1000 genomes]
rs10235371	1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10236132	0.92[ASN][1000 genomes]
rs10250794	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10261922	0.81[ASN][1000 genomes]
rs10270682	0.92[ASN][1000 genomes]
rs10273657	0.92[ASN][1000 genomes]
rs1137337	0.87[EUR][1000 genomes]
rs11575383	0.82[CEU][hapmap]
rs11575387	0.92[CEU][hapmap]
rs11575438	0.87[EUR][1000 genomes]
rs11575453	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs11575575	1.00[ASW][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11980407	1.00[JPT][hapmap]
rs17133853	0.92[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs2329368	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs28573146	0.81[ASN][1000 genomes]
rs55693922	0.92[ASN][1000 genomes]
rs55782136	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56069386	0.87[EUR][1000 genomes]
rs56074624	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56727653	0.87[EUR][1000 genomes]
rs58085392	0.87[EUR][1000 genomes]
rs59239231	0.87[EUR][1000 genomes]
rs61093871	0.87[EUR][1000 genomes]
rs62445903	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62445905	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6944650	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6972091	0.92[ASN][1000 genomes]
rs7791875	0.92[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs9656639	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11575544	TMPRSS3	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50528800-50533800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr7:50528800-50535400	Weak transcription	Colonic Mucosa	Colon
7	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine
8	chr7:50529600-50535400	Strong transcription	Fetal Intestine Small	intestine
9	chr7:50530000-50531000	Enhancers	Hela-S3	cervix
10	chr7:50530000-50533200	Strong transcription	Liver	Liver
11	chr7:50530400-50533600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:50530400-50535400	Weak transcription	HUVEC	blood vessel
13	chr7:50530600-50531800	Strong transcription	Rectal Mucosa Donor 29	rectum

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