Variant report

Variant	rs275343
Chromosome Location	chr6:150962698-150962699
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1388912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs275344	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs275345	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs275349	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];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6557549	0.94[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7769605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7775858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9372081	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9384570	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs9384571	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv886774	chr6:150931131-150983318	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs275343	DYM	trans	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150955200-150963400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:150955600-150963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:150955800-150972400	Weak transcription	Fetal Stomach	stomach
4	chr6:150958200-150971200	Weak transcription	Left Ventricle	heart
5	chr6:150959800-150963800	Weak transcription	Gastric	stomach
6	chr6:150959800-150965200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:150959800-150987400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:150960000-150963600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:150960400-150980600	Weak transcription	Stomach Mucosa	stomach
10	chr6:150961000-150963400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:150961400-150963000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr6:150961600-150962800	Enhancers	Fetal Intestine Small	intestine
13	chr6:150961600-150975200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:150961600-150980200	Weak transcription	Lung	lung
15	chr6:150961800-150963000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr6:150961800-150963600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:150961800-150972600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:150962000-150963000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:150962000-150963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:150962000-150963000	Enhancers	Fetal Brain Male	brain
21	chr6:150962000-150963600	Weak transcription	Spleen	Spleen
22	chr6:150962000-150965000	Enhancers	Thymus	Thymus
23	chr6:150962200-150963000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:150962200-150963200	Active TSS	Liver	Liver
25	chr6:150962200-150963600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr6:150962400-150962800	Active TSS	Primary hematopoietic stem cells	blood
27	chr6:150962400-150962800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:150962400-150962800	Active TSS	Fetal Brain Female	brain
29	chr6:150962400-150962800	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr6:150962400-150962800	Active TSS	Ovary	ovary
31	chr6:150962400-150962800	Active TSS	GM12878-XiMat	blood
32	chr6:150962400-150963000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:150962400-150963000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:150962400-150963000	Active TSS	Brain Hippocampus Middle	brain
35	chr6:150962400-150963000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr6:150962400-150963000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr6:150962400-150963000	Active TSS	Right Atrium	heart
38	chr6:150962400-150963200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:150962400-150963200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:150962400-150963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:150962400-150963800	Active TSS	Aorta	Aorta
42	chr6:150962400-150963800	Weak transcription	Small Intestine	intestine
43	chr6:150962600-150962800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:150962600-150962800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:150962600-150962800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:150962600-150962800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr6:150962600-150962800	Flanking Active TSS	Fetal Lung	lung
48	chr6:150962600-150962800	Enhancers	Fetal Thymus	thymus
49	chr6:150962600-150962800	Flanking Active TSS	HMEC	breast
50	chr6:150962600-150963000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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