Variant report

Variant	rs1345030
Chromosome Location	chr6:13439285-13439286
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13430517..13435196-chr6:13435654..13440896,5	K562	blood:
2	chr6:13405420..13408218-chr6:13438666..13440547,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1345029	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17768735	0.93[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1992385	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61657352	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62385764	0.92[ASN][1000 genomes]
rs62385768	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62385769	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62385771	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349618	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9395787	0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr6:13428800-13451200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:13430000-13445000	Weak transcription	NHEK	skin
3	chr6:13432600-13445400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:13433000-13454000	Weak transcription	Hela-S3	cervix
5	chr6:13433200-13440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:13433200-13440200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:13433200-13442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:13433200-13445200	Weak transcription	Brain Angular Gyrus	brain
9	chr6:13433600-13445400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:13434200-13441000	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:13434400-13439400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:13434400-13440600	Weak transcription	Lung	lung
13	chr6:13434400-13441000	Weak transcription	Brain Anterior Caudate	brain
14	chr6:13434400-13445200	Weak transcription	Fetal Heart	heart
15	chr6:13434400-13445200	Weak transcription	Pancreas	Pancrea
16	chr6:13434400-13448000	Weak transcription	Esophagus	oesophagus
17	chr6:13435600-13440600	Weak transcription	Adipose Nuclei	Adipose
18	chr6:13435600-13445000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:13436000-13440800	Weak transcription	Right Ventricle	heart
20	chr6:13436000-13441000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:13436400-13445000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:13437200-13440800	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:13437200-13445000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:13437200-13445200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:13437400-13440200	Weak transcription	NHLF	lung
26	chr6:13437400-13441200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr6:13437600-13440400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:13437600-13440800	Weak transcription	Liver	Liver
29	chr6:13437600-13440800	Weak transcription	Left Ventricle	heart
30	chr6:13437600-13441000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:13437600-13445200	Weak transcription	Fetal Thymus	thymus
32	chr6:13437800-13440600	Weak transcription	Right Atrium	heart
33	chr6:13437800-13444200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:13438000-13445200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:13438000-13445200	Weak transcription	GM12878-XiMat	blood
36	chr6:13438200-13439600	Weak transcription	Psoas Muscle	Psoas
37	chr6:13438200-13440800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:13438200-13441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:13438200-13448400	Weak transcription	Small Intestine	intestine
40	chr6:13438600-13462200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr6:13439000-13440800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:13439200-13439600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:13439200-13440200	Weak transcription	Fetal Lung	lung

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