Variant report

Variant	rs13218268
Chromosome Location	chr6:56229676-56229677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56227775..56231675-chr6:56232771..56236094,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11751569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759493	0.82[YRI][hapmap]
rs12110833	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs13220153	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs16887812	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs2206533	0.93[CHB][hapmap]
rs2294697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2397220	0.81[CHB][hapmap]
rs2397221	1.00[YRI][hapmap]
rs35615447	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143828	0.82[YRI][hapmap]
rs4715630	0.82[YRI][hapmap]
rs595238	0.90[YRI][hapmap]
rs62412411	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636389	0.90[YRI][hapmap]
rs6459157	0.87[CHB][hapmap]
rs6911502	0.90[YRI][hapmap]
rs6915291	0.81[CHB][hapmap]
rs6915564	0.90[YRI][hapmap]
rs6920964	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741295	0.82[YRI][hapmap]
rs7762629	0.82[YRI][hapmap]
rs7764788	0.87[CHB][hapmap]
rs7770594	0.87[CHB][hapmap]
rs7775847	1.00[YRI][hapmap]
rs9464383	0.87[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56221400-56231000	Weak transcription	Right Ventricle	heart
2	chr6:56221600-56233200	Weak transcription	NHLF	lung
3	chr6:56221800-56229800	Weak transcription	Fetal Stomach	stomach
4	chr6:56222400-56231000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:56222600-56230800	Weak transcription	Fetal Heart	heart
6	chr6:56222600-56231000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:56223400-56231000	Weak transcription	Fetal Lung	lung
8	chr6:56224400-56230800	Weak transcription	Fetal Kidney	kidney
9	chr6:56224600-56231000	Weak transcription	Adipose Nuclei	Adipose
10	chr6:56225200-56234800	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:56225200-56235200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:56225200-56235200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:56225800-56233200	Enhancers	HUVEC	blood vessel
14	chr6:56227200-56234800	Enhancers	Hela-S3	cervix
15	chr6:56228400-56230400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:56228600-56230200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:56228600-56232400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:56228600-56232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:56228800-56230000	Enhancers	HSMMtube	muscle
20	chr6:56228800-56230800	Enhancers	Osteobl	bone
21	chr6:56228800-56231200	Enhancers	HMEC	breast
22	chr6:56229000-56230000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:56229000-56230000	Enhancers	Rectal Smooth Muscle	rectum
24	chr6:56229000-56230200	Enhancers	HSMM	muscle
25	chr6:56229000-56230600	Enhancers	NH-A	brain
26	chr6:56229000-56231000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:56229200-56230000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:56229200-56230200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:56229200-56230200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:56229200-56230200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:56229200-56230200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:56229200-56231200	Enhancers	NHDF-Ad	bronchial
33	chr6:56229200-56231200	Enhancers	NHEK	skin
34	chr6:56229200-56231600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:56229200-56232200	Enhancers	Colon Smooth Muscle	Colon
36	chr6:56229200-56236200	Weak transcription	Left Ventricle	heart
37	chr6:56229400-56230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:56229400-56230800	Weak transcription	HepG2	liver
39	chr6:56229400-56231000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:56229400-56231000	Weak transcription	Brain Anterior Caudate	brain
41	chr6:56229600-56230200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:56229600-56235000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:56229600-56237800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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