Variant report

Variant	rs7151191
Chromosome Location	chr14:37592381-37592382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:37527584..37529968-chr14:37590390..37592949,2	MCF-7	breast:
2	chr14:37580174..37584845-chr14:37588606..37592760,5	MCF-7	breast:
3	chr14:37591458..37594181-chr14:37641204..37642829,2	MCF-7	breast:
4	chr14:37587663..37589305-chr14:37591557..37593848,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183032	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10135285	0.86[TSI][hapmap]
rs10136755	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs10137539	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10139726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10140136	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10150704	0.86[TSI][hapmap]
rs10483486	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs11156934	0.82[TSI][hapmap]
rs11620965	0.80[TSI][hapmap]
rs11848427	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12879089	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12879259	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs12883863	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.84[ASN][1000 genomes]
rs12889779	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12893236	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs12897101	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12897482	0.84[ASN][1000 genomes]
rs17106164	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs17554224	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs1950526	0.82[JPT][hapmap];0.88[LWK][hapmap];0.81[MEX][hapmap]
rs2093119	0.86[TSI][hapmap]
rs2899854	0.81[ASN][1000 genomes]
rs34164918	0.84[ASN][1000 genomes]
rs34503846	0.84[ASN][1000 genomes]
rs35127962	0.84[ASN][1000 genomes]
rs35130743	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35281444	0.84[ASN][1000 genomes]
rs35322850	0.80[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap]
rs35424693	0.84[ASN][1000 genomes]
rs35799924	0.82[ASN][1000 genomes]
rs36057482	0.82[ASN][1000 genomes]
rs4344641	0.84[ASN][1000 genomes]
rs4368077	0.84[ASN][1000 genomes]
rs4522325	0.84[ASN][1000 genomes]
rs4900692	0.85[GIH][hapmap]
rs61988260	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988282	0.84[ASN][1000 genomes]
rs61988284	0.84[ASN][1000 genomes]
rs61988286	0.84[ASN][1000 genomes]
rs61988287	0.84[ASN][1000 genomes]
rs6571776	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs6571777	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs714229	0.86[TSI][hapmap]
rs714230	0.86[TSI][hapmap]
rs7142673	0.86[TSI][hapmap]
rs7143414	0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs7143872	0.80[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap]
rs7143938	0.89[TSI][hapmap]
rs7145475	0.89[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7145768	0.80[CEU][hapmap]
rs7149154	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs7149939	0.86[TSI][hapmap]
rs7151497	0.86[TSI][hapmap]
rs7153180	0.80[CHD][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap]
rs7359156	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8006144	0.84[ASN][1000 genomes]
rs8008894	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8012018	0.86[TSI][hapmap]
rs8015845	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs8016558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8016567	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs8018493	0.84[ASN][1000 genomes]
rs8018823	0.80[CEU][hapmap];0.86[TSI][hapmap]
rs8019549	0.86[TSI][hapmap]
rs8019652	0.84[ASN][1000 genomes]
rs8021181	0.84[ASN][1000 genomes]
rs8022156	0.84[ASN][1000 genomes]
rs910509	0.86[TSI][hapmap]

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	nsv564348	chr14:37584981-37608459	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7151191	SEC23A	cis	cerebellum	SCAN
rs7151191	SIP1	cis	cerebellum	SCAN
rs7151191	MBIP	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37582400-37602800	Weak transcription	K562	blood
2	chr14:37587000-37595400	Weak transcription	Aorta	Aorta
3	chr14:37590800-37592600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:37591000-37592400	Enhancers	HUVEC	blood vessel
5	chr14:37591000-37592600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:37591000-37592600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:37591000-37592600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:37591200-37592400	Enhancers	A549	lung
9	chr14:37591200-37592800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:37591400-37592600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:37591400-37592600	Enhancers	HSMM	muscle
12	chr14:37591400-37594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:37591800-37592400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:37592000-37592800	Enhancers	NH-A	brain
15	chr14:37592200-37592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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