Variant report

Variant	rs4503768
Chromosome Location	chr15:39955932-39955933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39926150..39927736-chr15:39954644..39957261,2	MCF-7	breast:
2	chr15:39870612..39877795-chr15:39952369..39962860,18	MCF-7	breast:
3	chr15:39913171..39923947-chr15:39954798..39966806,32	MCF-7	breast:
4	chr15:39876509..39878370-chr15:39955744..39957926,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10083552	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10152903	1.00[CHB][hapmap]
rs10152951	1.00[CHB][hapmap]
rs1038097	0.82[EUR][1000 genomes]
rs1051442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10520141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10520143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10520145	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10520146	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520147	1.00[CHB][hapmap]
rs10520148	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520152	1.00[JPT][hapmap]
rs1073675	1.00[CHB][hapmap]
rs12324682	1.00[JPT][hapmap]
rs1382443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs1382444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs16969167	1.00[CHB][hapmap]
rs16969335	1.00[JPT][hapmap]
rs16969338	1.00[JPT][hapmap]
rs16969352	1.00[JPT][hapmap]
rs16969484	0.86[ASN][1000 genomes]
rs16969487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16969491	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16969547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969573	0.86[ASN][1000 genomes]
rs16969663	1.00[CHB][hapmap]
rs16969664	1.00[CHB][hapmap]
rs16969666	1.00[CHB][hapmap]
rs16969672	1.00[CHB][hapmap]
rs16969678	0.86[ASN][1000 genomes]
rs16969679	1.00[CHB][hapmap]
rs16969680	1.00[CHB][hapmap]
rs16969688	1.00[CHB][hapmap]
rs17632916	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17633107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17633210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17705806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17706083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17706179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17717859	1.00[CHB][hapmap]
rs1813493	0.84[EUR][1000 genomes]
rs1994380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228262	1.00[CHB][hapmap]
rs2228263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs2411316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2618156	0.84[EUR][1000 genomes]
rs2618160	0.83[EUR][1000 genomes]
rs2618161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2618164	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2618165	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs2618167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2664123	0.83[EUR][1000 genomes]
rs2664136	0.84[EUR][1000 genomes]
rs2664137	0.84[EUR][1000 genomes]
rs2664138	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs2664140	0.83[EUR][1000 genomes]
rs2664142	0.83[EUR][1000 genomes]
rs28377784	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28549326	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28619289	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28653011	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28735552	1.00[ASN][1000 genomes]
rs28785006	1.00[ASN][1000 genomes]
rs34878675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4085744	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41315060	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4322636	0.86[ASN][1000 genomes]
rs4415979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45461294	0.88[EUR][1000 genomes]
rs4923835	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs58188999	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59146042	0.86[ASN][1000 genomes]
rs59578395	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59628570	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60228643	1.00[ASN][1000 genomes]
rs6492905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs7172155	1.00[CHB][hapmap]
rs7173948	1.00[CHB][hapmap]
rs7179604	1.00[CHB][hapmap]
rs7181354	1.00[CHB][hapmap]
rs7182423	1.00[CHB][hapmap]
rs72727029	1.00[ASN][1000 genomes]
rs74008647	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs74008648	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8036035	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8041266	1.00[CHB][hapmap]
rs880270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs937961	1.00[CHB][hapmap]
rs937962	1.00[CHB][hapmap]
rs954152	0.85[EUR][1000 genomes]
rs9972350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39938000-39957600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:39948400-39956000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:39949400-39956200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:39950200-39957200	Weak transcription	HSMM	muscle
5	chr15:39950400-39957200	Weak transcription	HSMMtube	muscle
6	chr15:39950800-39957800	Weak transcription	HUVEC	blood vessel
7	chr15:39954400-39956400	Weak transcription	Fetal Kidney	kidney
8	chr15:39954400-39958200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:39954400-39958200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:39954400-39958200	Weak transcription	NH-A	brain
11	chr15:39954400-39959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:39954600-39958200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:39954800-39956200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:39955600-39956200	Enhancers	Fetal Lung	lung
15	chr15:39955600-39956400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:39955600-39959800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:39955800-39956000	Enhancers	Colon Smooth Muscle	Colon
18	chr15:39955800-39956200	Enhancers	Hela-S3	cervix
19	chr15:39955800-39956400	Enhancers	NHLF	lung
20	chr15:39955800-39957600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:39955800-39958400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:39955800-39960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:39955800-39960200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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