Variant report

Variant	rs10088450
Chromosome Location	chr8:19472087-19472088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19459193..19461588-chr8:19471214..19473086,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087317	1.00[AMR][1000 genomes]
rs10087663	1.00[AMR][1000 genomes]
rs10094142	1.00[AMR][1000 genomes]
rs10096485	1.00[AMR][1000 genomes]
rs10096490	1.00[AMR][1000 genomes]
rs10096638	1.00[AMR][1000 genomes]
rs10097851	1.00[AMR][1000 genomes]
rs10101907	1.00[AMR][1000 genomes]
rs10104615	1.00[AMR][1000 genomes]
rs10104968	1.00[AMR][1000 genomes]
rs10106180	1.00[AMR][1000 genomes]
rs10106270	1.00[AMR][1000 genomes]
rs10107181	1.00[AMR][1000 genomes]
rs10109345	1.00[AMR][1000 genomes]
rs17128520	1.00[AMR][1000 genomes]
rs17128532	1.00[AMR][1000 genomes]
rs17128535	1.00[AMR][1000 genomes]
rs17128545	1.00[AMR][1000 genomes]
rs17128641	1.00[AMR][1000 genomes]
rs17128662	1.00[AMR][1000 genomes]
rs17128691	1.00[AMR][1000 genomes]
rs17128714	1.00[AMR][1000 genomes]
rs17128743	1.00[AMR][1000 genomes]
rs17128745	1.00[AMR][1000 genomes]
rs17128792	1.00[AMR][1000 genomes]
rs17128803	1.00[AMR][1000 genomes]
rs17128811	1.00[AMR][1000 genomes]
rs28415838	1.00[AMR][1000 genomes]
rs28427117	1.00[AMR][1000 genomes]
rs28457744	1.00[AMR][1000 genomes]
rs28491635	1.00[AMR][1000 genomes]
rs28578312	1.00[AMR][1000 genomes]
rs28607676	1.00[AMR][1000 genomes]
rs28654443	1.00[AMR][1000 genomes]
rs28661517	1.00[AMR][1000 genomes]
rs28713671	1.00[AMR][1000 genomes]
rs28738093	1.00[AMR][1000 genomes]
rs28742998	1.00[AMR][1000 genomes]
rs7005354	1.00[AMR][1000 genomes]
rs7817946	1.00[AMR][1000 genomes]
rs7821215	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7821389	1.00[AMR][1000 genomes]
rs7821612	1.00[AMR][1000 genomes]
rs7824941	1.00[AMR][1000 genomes]
rs7839912	1.00[AMR][1000 genomes]
rs7840172	1.00[AMR][1000 genomes]
rs7843893	1.00[AMR][1000 genomes]
rs9325858	1.00[AMR][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	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer 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	11 gene(s)	inside rSNPs	diseases
4	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	2 gene(s)	inside rSNPs	diseases
9	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:19457600-19472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:19459400-19472200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr8:19460200-19474200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:19460200-19474200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19463400-19473200	Enhancers	Primary B cells from peripheral blood	blood
8	chr8:19464200-19472200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:19464200-19476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:19465800-19474000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:19466000-19472600	Weak transcription	Esophagus	oesophagus
12	chr8:19466600-19472200	Weak transcription	NHLF	lung
13	chr8:19466600-19477000	Weak transcription	Aorta	Aorta
14	chr8:19466600-19477000	Weak transcription	Fetal Lung	lung
15	chr8:19467000-19476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:19468000-19483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:19468400-19475400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:19468600-19472200	Weak transcription	Right Ventricle	heart
19	chr8:19470200-19472200	Weak transcription	Placenta	Placenta
20	chr8:19470200-19472200	Weak transcription	Left Ventricle	heart
21	chr8:19470200-19472600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:19470400-19472200	Weak transcription	Ovary	ovary
23	chr8:19470400-19472200	Weak transcription	Right Atrium	heart
24	chr8:19470800-19474600	Weak transcription	Fetal Stomach	stomach
25	chr8:19471400-19472600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr8:19471600-19472200	Enhancers	GM12878-XiMat	blood
27	chr8:19471600-19473200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:19471800-19472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:19471800-19472400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:19471800-19472400	Enhancers	Brain Substantia Nigra	brain
31	chr8:19471800-19472600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:19471800-19472600	Enhancers	Osteobl	bone
33	chr8:19471800-19473000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:19471800-19473000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:19471800-19473000	Enhancers	Hela-S3	cervix
36	chr8:19471800-19473000	Enhancers	HUVEC	blood vessel
37	chr8:19471800-19473200	Flanking Active TSS	A549	lung
38	chr8:19471800-19473400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:19472000-19472200	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr8:19472000-19472600	Enhancers	Primary T cells from cord blood	blood
41	chr8:19472000-19473000	Enhancers	NHDF-Ad	bronchial

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