Variant report

Variant	rs10519164
Chromosome Location	chr15:77625703-77625704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77617323..77619146-chr15:77624358..77627352,2	MCF-7	breast:
2	chr15:77619982..77622270-chr15:77624523..77628155,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10519167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11629652	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11629835	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11630837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11630843	0.85[ASN][1000 genomes]
rs11631909	0.85[ASN][1000 genomes]
rs11632729	0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs11632999	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11634056	0.85[ASN][1000 genomes]
rs11634174	0.90[CHB][hapmap]
rs11636412	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11637488	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs11639293	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs11639308	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898281	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12898370	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12898656	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12899552	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902896	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12903253	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12904254	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12909704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12910419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12910951	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12911649	1.00[JPT][hapmap]
rs12911963	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12916682	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs12916973	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs1554051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968835	0.93[JPT][hapmap];0.82[AMR][1000 genomes]
rs17382798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17383727	0.85[ASN][1000 genomes]
rs17383984	0.85[ASN][1000 genomes]
rs17384406	0.85[ASN][1000 genomes]
rs17385550	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17385648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17469276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17470228	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2864082	0.85[ASN][1000 genomes]
rs34194537	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34870981	0.82[ASN][1000 genomes]
rs34981488	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35235292	0.94[ASN][1000 genomes]
rs35268067	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs35490414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35902242	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55716459	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62007263	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62008432	0.85[ASN][1000 genomes]
rs7119	0.92[JPT][hapmap]
rs71407208	1.00[ASN][1000 genomes]
rs7162362	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7166293	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs7176254	0.85[ASN][1000 genomes]
rs7182880	0.82[ASN][1000 genomes]
rs8032071	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8040318	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs8040702	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs8042307	0.90[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' 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
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1041064	chr15:77497903-77631698	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1040430	chr15:77584375-77676957	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1836778	chr15:77608747-77694607	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10519164	RP11-797A18.4	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77603400-77633400	Weak transcription	Primary B cells from cord blood	blood
2	chr15:77606000-77627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:77618800-77627000	Weak transcription	Brain Anterior Caudate	brain
4	chr15:77619000-77630200	Weak transcription	Brain Angular Gyrus	brain
5	chr15:77620000-77645200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:77620800-77639200	Weak transcription	Osteobl	bone
7	chr15:77621000-77627200	Weak transcription	Aorta	Aorta
8	chr15:77621600-77627000	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:77621800-77627400	Weak transcription	Fetal Lung	lung
10	chr15:77621800-77628200	Weak transcription	Ovary	ovary
11	chr15:77622000-77627400	Weak transcription	Fetal Heart	heart
12	chr15:77622000-77627600	Weak transcription	NHLF	lung
13	chr15:77622000-77627800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:77622000-77627800	Weak transcription	Right Ventricle	heart
15	chr15:77622000-77636800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:77622000-77645200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:77622200-77627400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:77623000-77628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:77623200-77627800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:77623200-77628000	Weak transcription	NHDF-Ad	bronchial
21	chr15:77625200-77626400	Enhancers	Dnd41	blood
22	chr15:77625400-77625800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:77625400-77625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:77625600-77626000	Enhancers	GM12878-XiMat	blood
25	chr15:77625600-77630400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:77625600-77633000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:77625600-77633800	Weak transcription	Primary T cells from cord blood	blood

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