Variant report

Variant	rs6870480
Chromosome Location	chr5:107594358-107594359
allele	C/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: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10515385	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515388	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11242664	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652675	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12653027	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12653689	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12654140	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12657542	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12659437	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161193	0.88[EUR][1000 genomes]
rs17385914	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17386492	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17386875	0.86[ASN][1000 genomes]
rs17387645	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388244	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17450705	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17452357	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17452992	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052463	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2416528	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4129424	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4364376	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55755463	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56044682	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56855707	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58131807	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58212758	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58844678	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61603913	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6880005	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6888190	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72791270	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73214528	0.99[ASN][1000 genomes]
rs73214536	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703032	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7711717	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7724245	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7724860	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724884	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7733036	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs888792	0.84[EUR][1000 genomes];0.91[ASN][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:37 , 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	chr5:107593600-107595400	Enhancers	HSMM	muscle
23	chr5:107593600-107596400	Enhancers	HSMMtube	muscle
24	chr5:107593600-107596600	Enhancers	Fetal Heart	heart
25	chr5:107593600-107614000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:107593800-107594400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:107593800-107595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:107593800-107596000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:107593800-107596200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:107594000-107594600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:107594000-107594600	Weak transcription	Osteobl	bone
32	chr5:107594000-107595000	Weak transcription	NHDF-Ad	bronchial
33	chr5:107594000-107596000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:107594000-107596200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:107594000-107596400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:107594200-107595200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:107594200-107596800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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