Variant report

Variant	rs1768348
Chromosome Location	chr6:128595922-128595923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11968696	0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1738276	0.87[AMR][1000 genomes]
rs1738277	0.87[AMR][1000 genomes]
rs1738278	0.87[AMR][1000 genomes]
rs1738279	0.87[AMR][1000 genomes]
rs1738285	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1738286	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1738289	0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1738291	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1768347	0.94[YRI][hapmap];0.96[AFR][1000 genomes]
rs1768349	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs1768350	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1768351	0.85[AMR][1000 genomes]
rs1768352	0.87[AMR][1000 genomes]
rs1768356	0.87[AMR][1000 genomes]
rs1768359	0.87[AMR][1000 genomes]
rs55958764	0.87[AMR][1000 genomes]
rs73592688	0.87[AMR][1000 genomes]
rs73592691	0.87[AMR][1000 genomes]
rs73594656	1.00[AMR][1000 genomes]
rs73594666	0.85[AMR][1000 genomes]
rs73594668	0.85[AMR][1000 genomes]
rs73594673	0.85[AMR][1000 genomes]
rs73594676	0.85[AMR][1000 genomes]
rs73594679	0.85[AMR][1000 genomes]
rs73594681	0.85[AMR][1000 genomes]
rs73594682	1.00[AMR][1000 genomes]
rs73596645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596648	1.00[AMR][1000 genomes]
rs73596649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596655	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73596659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73596661	1.00[AMR][1000 genomes]
rs73772021	0.87[AMR][1000 genomes]
rs981999	0.87[AMR][1000 genomes]
rs982000	0.87[AMR][1000 genomes]
rs982001	0.87[AMR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128571200-128596200	Weak transcription	HSMMtube	muscle
2	chr6:128574000-128596200	Weak transcription	HSMM	muscle
3	chr6:128574600-128596400	Weak transcription	NH-A	brain
4	chr6:128582000-128596200	Weak transcription	NHDF-Ad	bronchial
5	chr6:128585200-128596200	Weak transcription	HMEC	breast
6	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:128585400-128598200	Weak transcription	HepG2	liver
8	chr6:128586400-128602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:128587600-128602200	Weak transcription	Fetal Intestine Large	intestine
10	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
11	chr6:128589200-128596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:128589400-128597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:128592600-128599200	Weak transcription	Fetal Brain Male	brain
14	chr6:128592800-128596000	Weak transcription	Liver	Liver
15	chr6:128592800-128596200	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:128592800-128596600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:128592800-128598200	Weak transcription	Fetal Stomach	stomach
18	chr6:128592800-128598400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:128592800-128602200	Weak transcription	Psoas Muscle	Psoas
20	chr6:128592800-128605200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:128593000-128596600	Weak transcription	Fetal Brain Female	brain
22	chr6:128593000-128597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:128593000-128600000	Weak transcription	Fetal Heart	heart
24	chr6:128593000-128600000	Weak transcription	Ovary	ovary
25	chr6:128593000-128603200	Weak transcription	Stomach Mucosa	stomach
26	chr6:128593000-128609000	Weak transcription	Fetal Lung	lung
27	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
28	chr6:128593200-128596000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:128593200-128596200	Weak transcription	Osteobl	bone
30	chr6:128593200-128596400	Weak transcription	NHLF	lung
31	chr6:128593200-128600000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:128594200-128601000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:128595400-128596400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:128595800-128596600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:128595800-128596800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:128595800-128598200	Enhancers	HUVEC	blood vessel
37	chr6:128595800-128598400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:128595800-128608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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