Variant report

Variant	rs73412518
Chromosome Location	chr6:38226834-38226835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38221614..38223859-chr6:38225623..38227159,2	K562	blood:

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

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

rs_ID	r²[population]
rs11964509	1.00[AMR][1000 genomes]
rs58257452	1.00[AMR][1000 genomes]
rs59159418	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947971	1.00[AMR][1000 genomes]
rs6912633	1.00[AMR][1000 genomes]
rs73410491	1.00[AMR][1000 genomes]
rs73412520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7748763	1.00[AMR][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:38208200-38236600	Weak transcription	Gastric	stomach
8	chr6:38208200-38255000	Weak transcription	Ovary	ovary
9	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:38213400-38228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:38213400-38232400	Weak transcription	Right Ventricle	heart
13	chr6:38215200-38229400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:38215600-38229000	Weak transcription	Brain Substantia Nigra	brain
15	chr6:38216000-38229000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:38216800-38227000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:38217000-38227000	Weak transcription	NHDF-Ad	bronchial
19	chr6:38218000-38229600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:38218000-38229800	Weak transcription	Spleen	Spleen
21	chr6:38218800-38232200	Weak transcription	Small Intestine	intestine
22	chr6:38219200-38227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:38219400-38229600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:38220000-38238200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:38220200-38229400	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:38220400-38229400	Weak transcription	Brain Anterior Caudate	brain
27	chr6:38220600-38228800	Weak transcription	HSMMtube	muscle
28	chr6:38220600-38241600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:38222000-38227200	Weak transcription	HSMM	muscle
30	chr6:38222000-38229600	Weak transcription	Aorta	Aorta
31	chr6:38222000-38234600	Weak transcription	Esophagus	oesophagus
32	chr6:38222200-38227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:38222600-38227000	Weak transcription	Osteobl	bone
34	chr6:38222600-38229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:38222600-38229400	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:38222600-38232400	Weak transcription	Lung	lung
37	chr6:38223000-38227200	Weak transcription	Liver	Liver
38	chr6:38223000-38230000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:38223000-38231600	Weak transcription	Fetal Intestine Large	intestine
40	chr6:38223200-38227200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:38223400-38229400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:38223600-38227400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:38223600-38229400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:38223600-38229800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr6:38223600-38256000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:38223800-38227600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr6:38223800-38229600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:38223800-38229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:38223800-38229800	Weak transcription	Fetal Lung	lung
50	chr6:38223800-38230000	Weak transcription	Primary hematopoietic stem cells	blood

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