Variant report

Variant	rs10518817
Chromosome Location	chr15:55953600-55953601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55951550..55954249-chr15:56034622..56036474,2	MCF-7	breast:
2	chr15:55948243..55950096-chr15:55952230..55953920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166450	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10851589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852298	0.84[ASN][1000 genomes]
rs11854213	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs12373006	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12438177	0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12442771	0.81[CHB][hapmap]
rs12591246	0.80[CEU][hapmap];0.91[CHB][hapmap];0.84[AMR][1000 genomes]
rs12592192	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12594642	0.80[CEU][hapmap];0.88[AMR][1000 genomes]
rs12903822	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1371056	0.80[CEU][hapmap];0.88[AMR][1000 genomes]
rs1438918	0.83[ASN][1000 genomes]
rs1530087	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16976450	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16976472	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs1814329	0.82[CHB][hapmap]
rs2008336	0.86[CHB][hapmap]
rs2118781	0.90[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs2414424	0.80[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes]
rs2414426	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes]
rs2414427	0.80[CEU][hapmap];0.95[CHB][hapmap];0.87[AMR][1000 genomes]
rs28556884	0.87[ASN][1000 genomes]
rs4392003	0.88[ASN][1000 genomes]
rs4774220	0.90[ASN][1000 genomes]
rs4774799	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4774800	0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs4774802	0.86[CHB][hapmap]
rs492363	0.83[CHB][hapmap]
rs550226	0.83[EUR][1000 genomes]
rs572531	0.89[CEU][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62043869	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62043871	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62043872	0.88[AMR][1000 genomes]
rs6493805	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493809	0.81[CHB][hapmap]
rs6493814	0.81[CHB][hapmap]
rs71110312	0.86[AMR][1000 genomes]
rs715321	0.90[AMR][1000 genomes]
rs7162879	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs7163167	0.80[CHB][hapmap]
rs7165778	0.94[ASN][1000 genomes]
rs7166952	0.97[ASN][1000 genomes]
rs7171318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7171522	0.96[ASN][1000 genomes]
rs7171834	0.96[ASN][1000 genomes]
rs7178379	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7180112	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7182733	0.81[CHB][hapmap]
rs7359255	0.82[CHB][hapmap]
rs8025445	0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs8034113	0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9920076	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9920246	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9920262	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv457158	chr15:55930542-55982257	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv569541	chr15:55930542-55982257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55911800-55977000	Weak transcription	Fetal Intestine Small	intestine
2	chr15:55920800-55987600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55932600-55987000	Weak transcription	Ovary	ovary
4	chr15:55932800-55973400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:55942800-55974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:55947400-55960200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:55948200-55953600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:55951200-55955400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr15:55951200-55956000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:55951400-55955600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr15:55952000-55955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:55952200-55960000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:55952400-55953600	Enhancers	Fetal Kidney	kidney
14	chr15:55952400-55954400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:55952400-55954600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:55952400-55955800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:55952400-55957000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:55952800-55954000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr15:55952800-55955400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:55952800-55972000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:55953000-55953600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr15:55953200-55954000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:55953200-55954200	Enhancers	Fetal Lung	lung
24	chr15:55953200-55954400	Enhancers	HepG2	liver
25	chr15:55953200-55955400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:55953400-55953600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:55953400-55953800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:55953400-55953800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:55953400-55953800	Enhancers	Gastric	stomach
30	chr15:55953400-55954000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:55953400-55954000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:55953400-55954000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr15:55953400-55954000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:55953400-55954000	Enhancers	HSMM	muscle
35	chr15:55953400-55954000	Enhancers	HUVEC	blood vessel
36	chr15:55953400-55954000	Enhancers	Osteobl	bone
37	chr15:55953400-55954200	Enhancers	Fetal Intestine Large	intestine
38	chr15:55953400-55954200	Enhancers	NH-A	brain
39	chr15:55953400-55954400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:55953400-55954400	Enhancers	Hela-S3	cervix
41	chr15:55953400-55954600	Enhancers	A549	lung
42	chr15:55953400-55955400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr15:55953600-55953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:55953600-55953800	Flanking Active TSS	Fetal Kidney	kidney
45	chr15:55953600-55954200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:55953600-55954600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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