Variant report

Variant	rs73749938
Chromosome Location	chr6:56362329-56362330
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10484789	0.82[AFR][1000 genomes]
rs11965750	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1535609	0.89[AFR][1000 genomes]
rs16887940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34804434	1.00[AMR][1000 genomes]
rs56159731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59646136	0.82[AFR][1000 genomes]
rs60139655	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61368349	0.82[AFR][1000 genomes]
rs73749926	1.00[AMR][1000 genomes]
rs73749927	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749935	0.89[AFR][1000 genomes]
rs73749936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv830666	chr6:56243743-56419599	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv885912	chr6:56327849-56458836	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:56329200-56373800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:56330000-56372400	Weak transcription	Lung	lung
5	chr6:56337600-56364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:56337600-56376000	Weak transcription	Gastric	stomach
7	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
8	chr6:56344200-56371600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:56344800-56372200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:56346000-56372400	Weak transcription	Psoas Muscle	Psoas
12	chr6:56347600-56372200	Weak transcription	Right Ventricle	heart
13	chr6:56348200-56371000	Weak transcription	Small Intestine	intestine
14	chr6:56348200-56373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:56348600-56374600	Strong transcription	Fetal Intestine Large	intestine
16	chr6:56348800-56373400	Weak transcription	Stomach Mucosa	stomach
17	chr6:56349600-56364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:56350200-56367000	Strong transcription	Liver	Liver
19	chr6:56350400-56370800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:56352000-56372600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:56352000-56373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:56352200-56373800	Weak transcription	Fetal Thymus	thymus
24	chr6:56355400-56363200	Strong transcription	GM12878-XiMat	blood
25	chr6:56357000-56382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:56357000-56383600	Strong transcription	NH-A	brain
27	chr6:56357000-56384000	Strong transcription	HSMM	muscle
28	chr6:56357200-56384200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:56357400-56371000	Weak transcription	Fetal Heart	heart
30	chr6:56357600-56365800	Weak transcription	Aorta	Aorta
31	chr6:56357600-56372200	Weak transcription	A549	lung
32	chr6:56357600-56372400	Weak transcription	NHEK	skin
33	chr6:56357800-56372000	Weak transcription	K562	blood
34	chr6:56357800-56372400	Weak transcription	Pancreas	Pancrea
35	chr6:56358000-56365200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:56358000-56371000	Weak transcription	Ovary	ovary
37	chr6:56358000-56371800	Weak transcription	Fetal Brain Male	brain
38	chr6:56359000-56369200	Strong transcription	NHDF-Ad	bronchial
39	chr6:56360400-56363000	Strong transcription	Brain Hippocampus Middle	brain
40	chr6:56360400-56363200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:56360400-56363200	Strong transcription	Fetal Brain Female	brain
42	chr6:56360400-56363200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr6:56360400-56364200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:56360400-56366200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr6:56360400-56370400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:56360400-56382200	Strong transcription	Osteobl	bone
47	chr6:56360600-56362600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:56360600-56363000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr6:56360600-56363200	Strong transcription	Brain Anterior Caudate	brain
50	chr6:56360600-56363200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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