Variant report

Variant	rs11156934
Chromosome Location	chr14:37589750-37589751
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	chr14:37580174..37584845-chr14:37588606..37592760,5	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10047908	0.84[CHD][hapmap];0.90[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap]
rs10135285	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs10137595	0.87[YRI][hapmap]
rs10137611	0.83[CHD][hapmap]
rs10148311	0.84[CHD][hapmap];0.81[TSI][hapmap]
rs10150704	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs10483489	0.86[YRI][hapmap]
rs1080374	0.81[EUR][1000 genomes]
rs11156935	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11620965	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11622236	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12433348	0.86[CHD][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs12879089	0.86[CEU][hapmap]
rs12883655	0.81[EUR][1000 genomes]
rs12883794	0.81[EUR][1000 genomes]
rs12883863	0.82[GIH][hapmap];0.85[TSI][hapmap]
rs12893236	0.82[CEU][hapmap]
rs1467486	0.87[YRI][hapmap]
rs1467489	0.86[YRI][hapmap]
rs1467490	0.86[YRI][hapmap]
rs17106359	0.86[YRI][hapmap]
rs1950884	0.86[CEU][hapmap]
rs1955756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093119	0.86[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2180600	0.84[CHD][hapmap]
rs2415378	0.84[CHD][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap]
rs34301509	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4408459	0.84[CHD][hapmap]
rs61988264	0.81[EUR][1000 genomes]
rs6571773	0.84[CHD][hapmap];0.84[MKK][hapmap];0.81[TSI][hapmap]
rs6571791	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs6571792	0.81[EUR][1000 genomes]
rs6571793	0.80[EUR][1000 genomes]
rs6571794	0.81[EUR][1000 genomes]
rs714229	0.86[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs714230	0.86[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7142673	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs7143494	0.90[CEU][hapmap];0.95[CHB][hapmap]
rs7143703	0.81[EUR][1000 genomes]
rs7143938	0.82[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap]
rs7149490	0.84[CHD][hapmap]
rs7149939	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.82[TSI][hapmap]
rs7151191	0.82[TSI][hapmap]
rs7151497	0.86[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs7153180	0.95[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap]
rs7157361	0.81[EUR][1000 genomes]
rs7161425	0.86[CEU][hapmap]
rs761678	0.86[YRI][hapmap]
rs8005022	0.84[CHD][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap]
rs8011715	0.84[CHD][hapmap]
rs8012018	0.86[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs8014303	0.81[EUR][1000 genomes]
rs8015843	0.81[EUR][1000 genomes]
rs8016262	0.81[EUR][1000 genomes]
rs8019549	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap]
rs910509	0.86[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs987826	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1050174	chr14:37556357-37664143	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1043410	chr14:37556357-37671059	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv564347	chr14:37558794-37590164	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv564348	chr14:37584981-37608459	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11156934	MBIP	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37582400-37602800	Weak transcription	K562	blood
2	chr14:37586200-37591000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:37586800-37590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:37586800-37591600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:37587000-37591000	Weak transcription	HUVEC	blood vessel
6	chr14:37587000-37591000	Weak transcription	NH-A	brain
7	chr14:37587000-37591000	Weak transcription	NHEK	skin
8	chr14:37587000-37591200	Weak transcription	HMEC	breast
9	chr14:37587000-37591400	Weak transcription	HSMMtube	muscle
10	chr14:37587000-37595400	Weak transcription	Aorta	Aorta
11	chr14:37587200-37591000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:37587400-37591000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:37587600-37591200	Weak transcription	Hela-S3	cervix
14	chr14:37588000-37591400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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