Variant report

Variant	rs11723455
Chromosome Location	chr4:7548824-7548825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7540632..7544452-chr4:7547712..7552910,6	MCF-7	breast:
2	chr4:7543788..7545988-chr4:7546899..7549006,2	K562	blood:
3	chr4:7534680..7537272-chr4:7547399..7550073,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10014162	0.80[ASN][1000 genomes]
rs10470723	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10805001	0.93[ASN][1000 genomes]
rs10937836	0.96[ASN][1000 genomes]
rs1107692	0.93[ASN][1000 genomes]
rs11721353	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11736943	0.82[ASN][1000 genomes]
rs11937027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13119421	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16840505	0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs34030222	0.98[ASN][1000 genomes]
rs34289744	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs34445288	0.89[ASN][1000 genomes]
rs34861707	0.80[ASN][1000 genomes]
rs34996971	0.93[ASN][1000 genomes]
rs35260897	0.82[ASN][1000 genomes]
rs35707377	0.96[ASN][1000 genomes]
rs35789691	0.94[ASN][1000 genomes]
rs36106587	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs4290892	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs4339212	0.86[CEU][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4365723	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4591607	0.87[ASN][1000 genomes]
rs4596239	0.93[CEU][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4637403	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4689138	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[ASN][1000 genomes]
rs4689139	0.85[ASN][1000 genomes]
rs4689779	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs55881020	0.91[ASN][1000 genomes]
rs56345748	0.80[ASN][1000 genomes]
rs6815897	0.87[ASN][1000 genomes]
rs6835393	0.94[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs71601859	0.96[ASN][1000 genomes]
rs71601860	0.96[ASN][1000 genomes]
rs71601861	0.96[ASN][1000 genomes]
rs71601862	0.98[ASN][1000 genomes]
rs73084716	0.82[ASN][1000 genomes]
rs73214654	0.82[ASN][1000 genomes]
rs7677330	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7689754	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7698678	0.80[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs870012	0.80[ASN][1000 genomes]
rs870013	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs871938	0.94[CHD][hapmap];1.00[JPT][hapmap]
rs871942	0.87[ASN][1000 genomes]
rs874235	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs882266	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs882267	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv461211	chr4:7530451-7548862	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11723455	EVC2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7541000-7549000	Weak transcription	Brain Angular Gyrus	brain
2	chr4:7541200-7549000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:7547400-7550400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:7547600-7550800	Enhancers	Esophagus	oesophagus
5	chr4:7547800-7549200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:7548000-7549000	Enhancers	NH-A	brain
7	chr4:7548000-7549200	Enhancers	HSMMtube	muscle
8	chr4:7548000-7549400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:7548000-7550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:7548000-7550600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:7548000-7550800	Enhancers	Liver	Liver
12	chr4:7548200-7549000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:7548200-7549200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:7548200-7549200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:7548200-7549600	Weak transcription	Brain Germinal Matrix	brain
16	chr4:7548200-7549600	Enhancers	Pancreas	Pancrea
17	chr4:7548200-7549800	Enhancers	Fetal Muscle Leg	muscle
18	chr4:7548200-7550200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:7548600-7550000	Weak transcription	Fetal Stomach	stomach
20	chr4:7548800-7549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:7548800-7549200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:7548800-7549200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:7548800-7549200	Flanking Active TSS	HMEC	breast
24	chr4:7548800-7549600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:7548800-7549800	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:7548800-7549800	Enhancers	Hela-S3	cervix
27	chr4:7548800-7550000	Flanking Active TSS	NHEK	skin

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