Variant report

Variant	rs4713478
Chromosome Location	chr6:11393645-11393646
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11229608..11234180-chr6:11390847..11394778,6	MCF-7	breast:
2	chr6:11391901..11394391-chr6:11432829..11435706,3	MCF-7	breast:
3	chr6:11383728..11385611-chr6:11391826..11394332,2	K562	blood:
4	chr6:11387321..11394874-chr6:11409302..11416244,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1012503	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10947217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11751505	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11756278	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12661807	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17507230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4318876	0.88[ASN][1000 genomes]
rs4713459	0.91[AMR][1000 genomes]
rs4713474	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713475	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55918622	0.88[ASN][1000 genomes]
rs56144403	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56155385	0.88[ASN][1000 genomes]
rs56317766	0.88[ASN][1000 genomes]
rs56711429	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59349836	0.88[ASN][1000 genomes]
rs61650802	0.88[ASN][1000 genomes]
rs6901538	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72832925	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72832932	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72832935	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72832944	0.88[ASN][1000 genomes]
rs73366900	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7740502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr6:11389200-11394800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:11389400-11394800	Enhancers	HUVEC	blood vessel
3	chr6:11391000-11394000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:11392200-11394000	Flanking Active TSS	HepG2	liver
5	chr6:11392400-11393800	Enhancers	Fetal Heart	heart
6	chr6:11392400-11393800	Enhancers	Left Ventricle	heart
7	chr6:11392400-11393800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr6:11392400-11394000	Enhancers	Fetal Intestine Small	intestine
9	chr6:11392400-11394000	Enhancers	Right Atrium	heart
10	chr6:11392400-11394400	Enhancers	Fetal Intestine Large	intestine
11	chr6:11392400-11394800	Enhancers	Placenta	Placenta
12	chr6:11392400-11395000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:11392400-11396000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:11392600-11393800	Enhancers	Liver	Liver
15	chr6:11392600-11394200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:11392600-11395200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:11392800-11394800	Enhancers	K562	blood
18	chr6:11393000-11393800	Enhancers	HSMMtube	muscle
19	chr6:11393000-11393800	Enhancers	Osteobl	bone
20	chr6:11393000-11394200	Enhancers	Fetal Lung	lung
21	chr6:11393000-11394200	Enhancers	Spleen	Spleen
22	chr6:11393000-11394400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:11393000-11394800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:11393000-11394800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:11393000-11394800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:11393000-11394800	Enhancers	Fetal Kidney	kidney
27	chr6:11393000-11394800	Enhancers	NHEK	skin
28	chr6:11393000-11395000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:11393000-11396000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:11393200-11393800	Enhancers	NH-A	brain
31	chr6:11393200-11394800	Enhancers	Primary B cells from cord blood	blood
32	chr6:11393200-11395000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:11393200-11395200	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:11393400-11393800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr6:11393400-11394200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:11393400-11394800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:11393400-11394800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:11393400-11394800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:11393400-11395000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:11393400-11395000	Enhancers	HMEC	breast
41	chr6:11393400-11395000	Enhancers	HSMM	muscle
42	chr6:11393400-11395000	Enhancers	NHDF-Ad	bronchial
43	chr6:11393600-11393800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:11393600-11394000	Enhancers	Small Intestine	intestine
45	chr6:11393600-11394200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:11393600-11394200	Weak transcription	Aorta	Aorta
47	chr6:11393600-11394400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:11393600-11394400	Enhancers	Hela-S3	cervix
49	chr6:11393600-11394800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:11393600-11394800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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