Variant report

Variant	rs1768351
Chromosome Location	chr6:128597425-128597426
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11968696	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1738286	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1738289	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs1738291	0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1768348	0.85[AMR][1000 genomes]
rs1768349	0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1768350	0.85[AMR][1000 genomes]
rs73594656	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73594666	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594668	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73594682	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596645	0.85[AMR][1000 genomes]
rs73596648	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596649	0.85[AMR][1000 genomes]
rs73596651	0.85[AMR][1000 genomes]
rs73596654	0.85[AMR][1000 genomes]
rs73596655	1.00[AMR][1000 genomes]
rs73596659	0.85[AMR][1000 genomes]
rs73596661	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs982001	0.83[AFR][1000 genomes]
rs982002	0.83[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:128585400-128598200	Weak transcription	HepG2	liver
3	chr6:128586400-128602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:128587600-128602200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
6	chr6:128589400-128597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:128592600-128599200	Weak transcription	Fetal Brain Male	brain
8	chr6:128592800-128598200	Weak transcription	Fetal Stomach	stomach
9	chr6:128592800-128598400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:128592800-128602200	Weak transcription	Psoas Muscle	Psoas
11	chr6:128592800-128605200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:128593000-128597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:128593000-128600000	Weak transcription	Fetal Heart	heart
14	chr6:128593000-128600000	Weak transcription	Ovary	ovary
15	chr6:128593000-128603200	Weak transcription	Stomach Mucosa	stomach
16	chr6:128593000-128609000	Weak transcription	Fetal Lung	lung
17	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
18	chr6:128593200-128600000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:128594200-128601000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:128595800-128598200	Enhancers	HUVEC	blood vessel
21	chr6:128595800-128598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:128595800-128608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:128596000-128598000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:128596000-128598800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:128596200-128597800	Enhancers	HSMM	muscle
26	chr6:128596200-128597800	Enhancers	NHEK	skin
27	chr6:128596200-128598200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:128596200-128598400	Enhancers	NHDF-Ad	bronchial
29	chr6:128596200-128599000	Enhancers	Osteobl	bone
30	chr6:128596400-128597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:128596600-128597600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:128596600-128597800	Weak transcription	Liver	Liver
33	chr6:128596600-128608800	Weak transcription	NH-A	brain
34	chr6:128596800-128602800	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:128596800-128607400	Weak transcription	HSMMtube	muscle
36	chr6:128596800-128623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:128597000-128598200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:128597200-128597800	Enhancers	Brain Substantia Nigra	brain
39	chr6:128597400-128598800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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