Variant report

Variant	rs1052523
Chromosome Location	chr8:10692242-10692243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10690421..10694581-chr8:10695821..10698975,5	MCF-7	breast:
2	chr8:10692044..10695028-chr8:10695086..10697405,2	MCF-7	breast:
3	chr8:10687146..10690339-chr8:10690695..10692954,3	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction
ENSG00000253695	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11997941	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13256603	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13256636	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13261103	1.00[CEU][hapmap]
rs13270447	1.00[CEU][hapmap]
rs13271456	1.00[CEU][hapmap]
rs13275368	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13277664	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs13280573	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17152442	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17152492	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17721019	0.92[EUR][1000 genomes]
rs2409653	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2898244	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2898246	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34349857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34535545	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35039898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35660623	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35873156	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61064518	0.92[EUR][1000 genomes]
rs6601531	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6601532	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6982062	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6983180	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6989930	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6990041	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6991573	1.00[YRI][hapmap]
rs6992312	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6993463	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6993632	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6993753	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7005389	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7006707	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7009841	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7015820	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73529608	0.88[EUR][1000 genomes]
rs73531562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7814489	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9969476	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking 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	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1019754	chr8:10617908-10700140	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv539471	chr8:10617908-10700140	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10663000-10696200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:10666400-10695200	Strong transcription	Primary T cells from cord blood	blood
3	chr8:10666800-10692400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:10667600-10693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10668400-10696200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:10669200-10692800	Strong transcription	Primary B cells from cord blood	blood
7	chr8:10669600-10692800	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:10670400-10692800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:10673200-10692400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:10674400-10692800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:10674600-10693200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:10674800-10696200	Weak transcription	Stomach Mucosa	stomach
13	chr8:10675000-10693000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:10676200-10696200	Weak transcription	Fetal Heart	heart
15	chr8:10677200-10692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:10677200-10692400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:10677200-10692400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:10678400-10692800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:10678600-10692400	Strong transcription	Left Ventricle	heart
20	chr8:10678800-10692400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:10679200-10693000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:10680400-10692800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:10680400-10692800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:10680400-10692800	Strong transcription	Dnd41	blood
25	chr8:10680600-10692400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:10680800-10693000	Strong transcription	Liver	Liver
27	chr8:10683200-10696000	Weak transcription	NHLF	lung
28	chr8:10683600-10696200	Weak transcription	Fetal Kidney	kidney
29	chr8:10683800-10692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:10683800-10692800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:10684400-10696200	Weak transcription	NHDF-Ad	bronchial
32	chr8:10686200-10696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10686400-10696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:10686600-10693200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:10687400-10692400	Strong transcription	Hela-S3	cervix
36	chr8:10687400-10693000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:10687800-10692400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:10687800-10692400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:10687800-10692400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:10687800-10692800	Strong transcription	K562	blood
41	chr8:10688000-10692400	Strong transcription	HMEC	breast
42	chr8:10688000-10696000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:10688000-10696200	Weak transcription	Fetal Brain Male	brain
44	chr8:10688400-10694800	Strong transcription	NHEK	skin
45	chr8:10688800-10696200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:10688800-10696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:10689800-10696200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:10690600-10696000	Weak transcription	HUVEC	blood vessel
49	chr8:10690600-10696200	Weak transcription	NH-A	brain
50	chr8:10690800-10693800	Weak transcription	HepG2	liver

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