Variant report

Variant	rs10063647
Chromosome Location	chr5:127371588-127371589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127369516..127372707-chr5:127418423..127420149,3	MCF-7	breast:
2	chr5:127371068..127373085-chr5:127417841..127420313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10039525	0.83[AMR][1000 genomes]
rs10067555	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1105315	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1234527	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2001524	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6887276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790153	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs790156	0.88[CEU][hapmap];0.85[CHB][hapmap]
rs806100	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs809841	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
2	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
3	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
5	chr5:127334600-127394000	Weak transcription	Lung	lung
6	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
7	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:127351000-127372800	Weak transcription	Brain Angular Gyrus	brain
10	chr5:127352000-127372800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:127354600-127372600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
16	chr5:127354800-127379800	Weak transcription	Fetal Stomach	stomach
17	chr5:127356000-127372600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:127356400-127379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:127357200-127373800	Weak transcription	NH-A	brain
22	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:127358000-127378400	Weak transcription	NHLF	lung
24	chr5:127358800-127372600	Weak transcription	HMEC	breast
25	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:127359600-127374000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:127359600-127376400	Weak transcription	Ovary	ovary
28	chr5:127360400-127372800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:127360400-127393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:127366000-127374000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:127366000-127389000	Weak transcription	HSMMtube	muscle
32	chr5:127366400-127372800	Weak transcription	Stomach Mucosa	stomach
33	chr5:127366400-127374200	Weak transcription	HSMM	muscle
34	chr5:127366800-127372600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:127367000-127378400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr5:127367200-127373600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:127367400-127385200	Weak transcription	Primary B cells from cord blood	blood
38	chr5:127369200-127377000	Weak transcription	Primary T cells from cord blood	blood
39	chr5:127369200-127385200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:127369400-127374200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr5:127370600-127372600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:127370600-127373200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:127370800-127371600	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:127370800-127372200	Enhancers	A549	lung
46	chr5:127370800-127373000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:127370800-127377000	Enhancers	Hela-S3	cervix
48	chr5:127371200-127371800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:127371400-127371600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:127371400-127371600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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