Variant report

Variant	rs745075
Chromosome Location	chr4:100532637-100532638
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	chr4:100523473..100525499-chr4:100530988..100533499,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10516447	0.82[YRI][hapmap]
rs1491237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491244	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1491245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17533020	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17533489	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17533517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035815	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2035816	0.93[AMR][1000 genomes]
rs2903202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6832119	1.00[AFR][1000 genomes]
rs6832927	1.00[AFR][1000 genomes]
rs6837699	0.94[AFR][1000 genomes]
rs6842339	0.89[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs6844547	0.94[AFR][1000 genomes]
rs6845301	0.94[AFR][1000 genomes]
rs745074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7668586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7693865	1.00[AFR][1000 genomes]
rs7698547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs745075	EMCN	cis	parietal	SCAN
rs745075	ADH6	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100507800-100533800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr4:100516400-100546200	Strong transcription	Liver	Liver
3	chr4:100518800-100545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:100522600-100545800	Strong transcription	Fetal Intestine Large	intestine
5	chr4:100524400-100534800	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:100526600-100535800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:100531400-100533400	Weak transcription	HepG2	liver
8	chr4:100532000-100532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:100532000-100532800	Active TSS	Aorta	Aorta
10	chr4:100532000-100533000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:100532200-100532800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr4:100532200-100532800	Active TSS	HSMMtube	muscle
13	chr4:100532200-100537000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:100532400-100532800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:100532400-100535200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:100532600-100532800	Enhancers	Adipose Nuclei	Adipose
17	chr4:100532600-100533600	Weak transcription	Psoas Muscle	Psoas
18	chr4:100532600-100534800	Enhancers	Rectal Smooth Muscle	rectum
19	chr4:100532600-100535600	Weak transcription	Fetal Lung	lung
20	chr4:100532600-100535800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:100532600-100536400	Weak transcription	Fetal Muscle Leg	muscle

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