Variant report

Variant	rs10107723
Chromosome Location	chr8:48486912-48486913
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	chr1:234744778..234747020-chr8:48484752..48487431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168264	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10087517	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10092880	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10095193	0.88[EUR][1000 genomes]
rs10958274	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11989844	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1487438	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs1552667	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2279431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28542855	0.98[EUR][1000 genomes]
rs3614	1.00[CEU][hapmap]
rs6992255	0.83[EUR][1000 genomes]
rs72646358	0.88[EUR][1000 genomes]
rs72646361	0.93[EUR][1000 genomes]
rs72646363	0.86[EUR][1000 genomes]
rs72646372	0.84[EUR][1000 genomes]
rs72646383	0.81[EUR][1000 genomes]
rs729228	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7812323	0.88[EUR][1000 genomes]
rs7822320	0.81[EUR][1000 genomes]
rs7834901	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7839055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7841661	1.00[CEU][hapmap]
rs7843066	0.85[EUR][1000 genomes]
rs9918758	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48466800-48522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48467400-48492400	Weak transcription	Left Ventricle	heart
3	chr8:48473000-48511400	Weak transcription	Primary T cells from cord blood	blood
4	chr8:48479400-48496200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:48480400-48503000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:48481000-48503200	Weak transcription	Dnd41	blood
7	chr8:48481200-48513600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:48481400-48487200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:48481400-48494600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:48482000-48492200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48485400-48487400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr8:48485400-48487800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:48485400-48488000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:48485800-48487000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:48485800-48487000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:48485800-48487600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:48486000-48487000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:48486000-48487000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr8:48486000-48487200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:48486200-48487000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:48486200-48487000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:48486200-48487000	Enhancers	HSMMtube	muscle
23	chr8:48486400-48487000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:48486400-48491000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:48486400-48506200	Weak transcription	Pancreas	Pancrea
26	chr8:48486600-48487000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:48486600-48487000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:48486800-48487200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:48486800-48487800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:48486800-48491400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:48486800-48491600	Weak transcription	Osteobl	bone

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