Variant report

Variant	rs73240973
Chromosome Location	chr5:112877620-112877621
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	chr5:112867415..112871234-chr5:112874702..112879170,5	K562	blood:
2	chr5:112851205..112853122-chr5:112875699..112878060,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57295502	1.00[AMR][1000 genomes]
rs60321322	1.00[AMR][1000 genomes]
rs6869784	1.00[AMR][1000 genomes]
rs73240957	1.00[AMR][1000 genomes]
rs73240966	1.00[AMR][1000 genomes]
rs73240968	1.00[AMR][1000 genomes]
rs73246999	1.00[AMR][1000 genomes]
rs73781706	1.00[AMR][1000 genomes]
rs7727209	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112879000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:112850400-112879200	Weak transcription	Gastric	stomach
3	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
4	chr5:112850600-112879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
6	chr5:112851400-112879000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
8	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:112852400-112878800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:112852400-112882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:112852400-112882200	Weak transcription	Fetal Heart	heart
12	chr5:112853200-112882400	Weak transcription	Brain Angular Gyrus	brain
13	chr5:112858800-112882000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:112858800-112882200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:112860400-112879000	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:112860400-112882200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:112864200-112882200	Weak transcription	Stomach Mucosa	stomach
19	chr5:112866000-112878000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:112867000-112882000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
23	chr5:112867200-112878800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:112867200-112880600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:112867200-112882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
27	chr5:112867200-112904000	Weak transcription	Lung	lung
28	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
29	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
32	chr5:112867400-112878800	Weak transcription	Thymus	Thymus
33	chr5:112867400-112879000	Weak transcription	NHLF	lung
34	chr5:112867400-112879200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:112867400-112879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:112867400-112882200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:112867400-112888000	Weak transcription	HSMMtube	muscle
38	chr5:112867400-112888800	Weak transcription	Ovary	ovary
39	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
40	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:112867600-112882600	Weak transcription	Fetal Brain Female	brain
42	chr5:112867600-112891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:112868000-112878400	Weak transcription	NHEK	skin
44	chr5:112868000-112879600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:112868000-112893400	Strong transcription	Dnd41	blood
46	chr5:112868400-112893600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:112868600-112879000	Weak transcription	HMEC	breast
48	chr5:112868600-112886400	Strong transcription	Liver	Liver
49	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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