Variant report

Variant	rs12519091
Chromosome Location	chr5:107595650-107595651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:
2	chr5:107595024..107598091-chr5:107715832..107718425,3	K562	blood:
3	chr5:107593297..107597338-chr5:107716343..107718522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10057274	0.87[JPT][hapmap]
rs10057905	0.86[JPT][hapmap]
rs10070565	0.87[JPT][hapmap]
rs10477889	0.87[JPT][hapmap]
rs11240960	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521975	0.87[JPT][hapmap]
rs13174270	0.87[JPT][hapmap]
rs286762	0.87[JPT][hapmap]
rs286765	0.87[JPT][hapmap]
rs286766	0.82[JPT][hapmap]
rs2922409	0.87[JPT][hapmap]
rs2922410	0.87[JPT][hapmap]
rs2922434	0.87[JPT][hapmap]
rs2966819	0.87[JPT][hapmap]
rs34111132	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34662628	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3756573	0.87[JPT][hapmap]
rs399438	0.86[JPT][hapmap]
rs4385196	0.87[JPT][hapmap]
rs4957750	0.87[JPT][hapmap]
rs9328029	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv830441	chr5:107450392-107614557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv882684	chr5:107521677-107695558	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv830442	chr5:107539150-107697020	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882685	chr5:107564746-107695558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv4950	chr5:107587778-107637348	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv882687	chr5:107595383-107695558	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107575200-107596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:107575400-107617600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:107577000-107616000	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107585000-107617800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:107589200-107595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:107591800-107596200	Weak transcription	Ovary	ovary
7	chr5:107592000-107595800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:107592000-107596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:107593200-107596400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:107593600-107596400	Enhancers	HSMMtube	muscle
11	chr5:107593600-107596600	Enhancers	Fetal Heart	heart
12	chr5:107593600-107614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:107593800-107596000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:107593800-107596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:107594000-107596000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:107594000-107596200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:107594000-107596400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:107594200-107596800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:107594400-107596000	Enhancers	HUVEC	blood vessel
20	chr5:107594400-107596400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:107594600-107596200	Enhancers	Osteobl	bone
22	chr5:107594800-107596000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:107594800-107596200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:107594800-107596400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:107595000-107595800	Enhancers	Fetal Intestine Large	intestine
26	chr5:107595000-107596000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:107595000-107596400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:107595000-107596400	Enhancers	Right Ventricle	heart
29	chr5:107595000-107596400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:107595000-107596400	Enhancers	NHDF-Ad	bronchial
31	chr5:107595000-107596800	Enhancers	NH-A	brain
32	chr5:107595200-107596000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107595200-107596000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:107595200-107596000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:107595200-107596200	Weak transcription	GM12878-XiMat	blood
36	chr5:107595200-107596200	Enhancers	K562	blood
37	chr5:107595200-107596400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:107595200-107596400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:107595200-107596400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:107595200-107596400	Enhancers	Fetal Intestine Small	intestine
41	chr5:107595400-107595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:107595400-107596200	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:107595400-107596200	Weak transcription	Fetal Lung	lung
44	chr5:107595400-107596400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:107595400-107596800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:107595600-107596000	Weak transcription	Liver	Liver
47	chr5:107595600-107596000	Weak transcription	Fetal Kidney	kidney
48	chr5:107595600-107596000	Enhancers	Psoas Muscle	Psoas
49	chr5:107595600-107596200	Weak transcription	Rectal Smooth Muscle	rectum

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