Variant report

Variant	rs7754771
Chromosome Location	chr6:128679672-128679673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1416518	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17055834	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1890543	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2326682	0.96[AFR][1000 genomes]
rs4351279	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs4895834	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs57524201	0.94[AFR][1000 genomes]
rs6569526	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs73589563	0.88[AFR][1000 genomes]
rs73589574	0.86[AFR][1000 genomes]
rs73589577	0.82[AFR][1000 genomes]
rs7758826	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs8180639	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs9388633	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs946425	0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs946426	1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128668600-128684200	Weak transcription	Fetal Kidney	kidney
2	chr6:128673000-128681000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:128673000-128687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:128673200-128683200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:128674000-128684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:128674000-128685800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:128675000-128688000	Weak transcription	Gastric	stomach
8	chr6:128677200-128680000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:128677400-128679800	Enhancers	HSMMtube	muscle
10	chr6:128677400-128686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:128677600-128680000	Enhancers	Brain Anterior Caudate	brain
12	chr6:128677600-128680400	Enhancers	Fetal Heart	heart
13	chr6:128677800-128680000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr6:128678000-128680000	Enhancers	Colon Smooth Muscle	Colon
15	chr6:128678000-128680200	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:128678200-128680200	Enhancers	Brain Hippocampus Middle	brain
17	chr6:128678400-128680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:128678400-128680000	Enhancers	Fetal Lung	lung
19	chr6:128678400-128680400	Enhancers	Fetal Intestine Small	intestine
20	chr6:128678600-128679800	Enhancers	Ovary	ovary
21	chr6:128678600-128679800	Enhancers	Psoas Muscle	Psoas
22	chr6:128678600-128680000	Enhancers	HSMM	muscle
23	chr6:128678600-128680800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:128678800-128679800	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:128678800-128679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:128678800-128680000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr6:128678800-128697000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:128679000-128680800	Enhancers	Liver	Liver
29	chr6:128679200-128680200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:128679200-128680200	Enhancers	Brain Angular Gyrus	brain
31	chr6:128679200-128680400	Enhancers	Small Intestine	intestine
32	chr6:128679200-128680800	Enhancers	Fetal Intestine Large	intestine
33	chr6:128679400-128680000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:128679400-128680000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:128679400-128680000	Enhancers	NHDF-Ad	bronchial
36	chr6:128679400-128680200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:128679400-128680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:128679400-128680200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:128679400-128680200	Enhancers	Stomach Mucosa	stomach
40	chr6:128679400-128680400	Enhancers	Osteobl	bone
41	chr6:128679400-128680600	Enhancers	HepG2	liver
42	chr6:128679600-128679800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:128679600-128680000	Enhancers	NH-A	brain
44	chr6:128679600-128680200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:128679600-128684600	Weak transcription	Brain Substantia Nigra	brain
46	chr6:128679600-128686600	Weak transcription	Right Ventricle	heart
47	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart

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