Variant report

Variant	rs11240960
Chromosome Location	chr5:107593829-107593830
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	chr5:107578995..107581468-chr5:107593247..107594790,2	MCF-7	breast:
2	chr5:107593297..107597338-chr5:107716343..107718522,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 29 )
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]
rs12519091	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];0.97[EUR][1000 genomes]
rs34662628	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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:8 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
2	chr5:107575200-107596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:107575400-107617600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:107575600-107595000	Weak transcription	Right Ventricle	heart
5	chr5:107576800-107595200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:107577000-107616000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107585000-107617800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:107586200-107595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:107587800-107595000	Weak transcription	Liver	Liver
10	chr5:107588800-107594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:107589200-107595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:107589400-107595000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:107589400-107595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:107589600-107595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:107589800-107595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:107591800-107596200	Weak transcription	Ovary	ovary
17	chr5:107592000-107595000	Weak transcription	Fetal Intestine Large	intestine
18	chr5:107592000-107595800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:107592000-107596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:107592800-107595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:107593200-107596400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:107593600-107594000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:107593600-107594000	Enhancers	NHDF-Ad	bronchial
24	chr5:107593600-107595400	Enhancers	HSMM	muscle
25	chr5:107593600-107596400	Enhancers	HSMMtube	muscle
26	chr5:107593600-107596600	Enhancers	Fetal Heart	heart
27	chr5:107593600-107614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:107593800-107594000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:107593800-107594000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:107593800-107594000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:107593800-107594000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:107593800-107594000	Enhancers	Osteobl	bone
33	chr5:107593800-107594400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:107593800-107595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:107593800-107596000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:107593800-107596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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