Variant report

Variant	rs7760394
Chromosome Location	chr6:45578904-45578905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45566597..45569065-chr6:45577055..45579600,2	K562	blood:
2	chr6:45574976..45576984-chr6:45578078..45580337,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12526713	0.86[CHB][hapmap]
rs12526748	0.86[CHB][hapmap]
rs12528502	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs12661124	0.82[AFR][1000 genomes]
rs12665637	0.82[AFR][1000 genomes]
rs1491142	0.82[AFR][1000 genomes]
rs16873543	0.93[ASW][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs16873550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2020084	0.82[AFR][1000 genomes]
rs56083876	0.82[AFR][1000 genomes]
rs59074904	0.87[AFR][1000 genomes]
rs60540355	0.86[AFR][1000 genomes]
rs60609330	0.82[EUR][1000 genomes]
rs6458450	0.84[AFR][1000 genomes]
rs6458452	0.81[EUR][1000 genomes]
rs6458454	0.84[AFR][1000 genomes]
rs6458455	0.82[AFR][1000 genomes]
rs6899443	0.82[AFR][1000 genomes]
rs6899787	0.81[EUR][1000 genomes]
rs6901714	0.91[ASN][1000 genomes]
rs6924440	0.81[EUR][1000 genomes]
rs6938247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6938489	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs6938758	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73444563	0.81[EUR][1000 genomes]
rs73457129	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73457139	0.83[EUR][1000 genomes]
rs73457146	0.81[EUR][1000 genomes]
rs7752200	0.82[AFR][1000 genomes]
rs7752782	0.86[CHB][hapmap]
rs7758915	0.86[AFR][1000 genomes]
rs7759415	0.91[AFR][1000 genomes]
rs7764338	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9296462	0.89[CHD][hapmap];0.98[GIH][hapmap];0.92[MKK][hapmap]
rs9463108	0.89[CHD][hapmap];0.98[GIH][hapmap];0.92[MKK][hapmap]
rs9472518	0.82[AFR][1000 genomes]
rs9472524	0.89[AFR][1000 genomes]
rs9472525	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45563800-45586200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45564200-45579200	Weak transcription	Fetal Kidney	kidney
3	chr6:45574400-45579600	Enhancers	Stomach Mucosa	stomach
4	chr6:45574800-45579400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:45576200-45579600	Enhancers	Pancreas	Pancrea
6	chr6:45576400-45581000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:45576600-45581400	Weak transcription	Small Intestine	intestine
8	chr6:45576800-45581200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:45576800-45585000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:45577000-45581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:45577000-45581200	Weak transcription	Osteobl	bone
12	chr6:45577400-45579600	Enhancers	Fetal Intestine Small	intestine
13	chr6:45577400-45581000	Weak transcription	NHEK	skin
14	chr6:45577400-45581200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:45577400-45581400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:45577600-45580000	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:45577600-45581000	Weak transcription	HMEC	breast
18	chr6:45577800-45579000	Weak transcription	Esophagus	oesophagus
19	chr6:45577800-45581000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:45577800-45581200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:45577800-45581200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:45577800-45581200	Weak transcription	NHDF-Ad	bronchial
23	chr6:45577800-45581400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:45577800-45581400	Weak transcription	HSMM	muscle
25	chr6:45578000-45581200	Weak transcription	NHLF	lung
26	chr6:45578000-45585200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:45578200-45579400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:45578400-45579200	Weak transcription	Gastric	stomach
29	chr6:45578400-45579600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr6:45578400-45581400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:45578400-45582400	Weak transcription	Hela-S3	cervix
32	chr6:45578600-45579000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:45578800-45579200	Enhancers	Primary B cells from peripheral blood	blood
34	chr6:45578800-45579200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:45578800-45579400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:45578800-45579600	Enhancers	Primary hematopoietic stem cells	blood
37	chr6:45578800-45579600	Enhancers	Fetal Intestine Large	intestine
38	chr6:45578800-45579800	Enhancers	Fetal Lung	lung

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