Variant report

Variant	rs72743200
Chromosome Location	chr5:37738113-37738114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10071815	0.86[EUR][1000 genomes]
rs13188890	0.86[EUR][1000 genomes]
rs1549251	0.86[EUR][1000 genomes]
rs1549252	0.86[EUR][1000 genomes]
rs28377651	0.86[EUR][1000 genomes]
rs28874633	0.86[EUR][1000 genomes]
rs2910798	0.86[EUR][1000 genomes]
rs2972941	0.86[EUR][1000 genomes]
rs2973074	0.84[EUR][1000 genomes]
rs41270339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55633811	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55654436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003317	0.87[EUR][1000 genomes]
rs56279820	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898254	0.86[EUR][1000 genomes]
rs6451341	0.86[EUR][1000 genomes]
rs67885658	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740972	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740973	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740975	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740978	0.81[EUR][1000 genomes]
rs72740981	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740983	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740989	0.81[EUR][1000 genomes]
rs72740990	0.81[EUR][1000 genomes]
rs72740991	0.81[EUR][1000 genomes]
rs72743159	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743164	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743166	0.88[EUR][1000 genomes]
rs72743167	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743169	1.00[EUR][1000 genomes]
rs72743170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743180	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743185	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7448783	0.86[EUR][1000 genomes]
rs7705963	0.86[EUR][1000 genomes]
rs7709969	0.81[EUR][1000 genomes]
rs7722257	0.86[EUR][1000 genomes]
rs7737640	0.86[EUR][1000 genomes]
rs9283746	0.94[EUR][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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
4	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
5	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
6	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
7	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:37722400-37743200	Weak transcription	Esophagus	oesophagus
10	chr5:37723200-37738200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:37723400-37738200	Weak transcription	A549	lung
12	chr5:37725000-37738400	Weak transcription	HMEC	breast
13	chr5:37727600-37738400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:37727600-37745400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:37728000-37741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:37728000-37741800	Weak transcription	Ovary	ovary
17	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
19	chr5:37728200-37741200	Weak transcription	Fetal Intestine Large	intestine
20	chr5:37728400-37738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:37728400-37743200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:37728400-37745400	Weak transcription	Thymus	Thymus
23	chr5:37728800-37738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:37728800-37738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:37728800-37741600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:37728800-37754400	Weak transcription	Placenta	Placenta
27	chr5:37729000-37738400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:37729000-37746000	Weak transcription	Fetal Thymus	thymus
29	chr5:37729400-37753200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:37729600-37740800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:37729600-37743000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:37729600-37743200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:37729600-37745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:37729600-37755800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:37730000-37749800	Weak transcription	HepG2	liver
36	chr5:37730200-37752000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:37730200-37757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:37730400-37752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:37731400-37738200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:37731400-37742800	Weak transcription	Dnd41	blood
41	chr5:37731400-37743200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:37731400-37745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:37731600-37738200	Weak transcription	Fetal Stomach	stomach
44	chr5:37731600-37745600	Weak transcription	Fetal Lung	lung
45	chr5:37735400-37738200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:37735400-37739600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:37735400-37742200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:37735600-37738400	Enhancers	HSMMtube	muscle
49	chr5:37735600-37738600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:37735800-37744600	Strong transcription	Primary B cells from peripheral blood	blood

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