Variant report

Variant	rs494971
Chromosome Location	chr6:13405553-13405554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13405420..13408218-chr6:13438666..13440547,2	K562	blood:
2	chr6:13404530..13406535-chr6:13408392..13410401,3	K562	blood:
3	chr6:13395967..13397504-chr6:13405065..13407928,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34562580	0.97[AFR][1000 genomes]
rs492192	1.00[AFR][1000 genomes]
rs548259	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13396200-13407000	Weak transcription	Gastric	stomach
2	chr6:13396600-13405800	Weak transcription	HepG2	liver
3	chr6:13398000-13406000	Weak transcription	Lung	lung
4	chr6:13398200-13406800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:13398400-13407400	Weak transcription	Placenta	Placenta
6	chr6:13398600-13406000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:13399200-13406800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:13399400-13405800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:13401000-13406000	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:13401600-13407000	Weak transcription	GM12878-XiMat	blood
11	chr6:13401800-13419000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:13403600-13409600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:13404000-13406200	Enhancers	Liver	Liver
14	chr6:13404000-13407400	Enhancers	Fetal Heart	heart
15	chr6:13404000-13408800	Enhancers	Brain Angular Gyrus	brain
16	chr6:13404000-13409000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:13404200-13407200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:13404400-13405600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:13404400-13406400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr6:13404400-13407200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:13404400-13407400	Enhancers	A549	lung
22	chr6:13404400-13407800	Enhancers	NHLF	lung
23	chr6:13404400-13408200	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:13404400-13408800	Enhancers	Adipose Nuclei	Adipose
25	chr6:13404400-13408800	Enhancers	Left Ventricle	heart
26	chr6:13404400-13408800	Enhancers	Psoas Muscle	Psoas
27	chr6:13404400-13408800	Enhancers	Right Atrium	heart
28	chr6:13404400-13409000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:13404400-13411400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:13404800-13407000	Weak transcription	Fetal Lung	lung
31	chr6:13404800-13408600	Enhancers	Spleen	Spleen
32	chr6:13405000-13405600	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:13405000-13405600	Enhancers	HUVEC	blood vessel
34	chr6:13405000-13406000	Weak transcription	Right Ventricle	heart
35	chr6:13405000-13406000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:13405000-13406200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:13405000-13406600	Weak transcription	Esophagus	oesophagus
38	chr6:13405000-13406600	Weak transcription	NHDF-Ad	bronchial
39	chr6:13405000-13407200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:13405000-13407400	Enhancers	Hela-S3	cervix
41	chr6:13405000-13407600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr6:13405000-13410200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:13405000-13418400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:13405000-13421800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:13405200-13405600	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:13405200-13405600	Weak transcription	K562	blood
47	chr6:13405200-13406600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:13405200-13407600	Weak transcription	NHEK	skin
49	chr6:13405200-13408800	Enhancers	Brain Anterior Caudate	brain
50	chr6:13405400-13405800	Weak transcription	HSMMtube	muscle

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