Variant report

Variant	rs72743192
Chromosome Location	chr5:37731103-37731104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

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]
rs72740968	1.00[AFR][1000 genomes]
rs72740972	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740973	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740975	1.00[AFR][1000 genomes];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	1.00[AFR][1000 genomes];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]
rs72743193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745108	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:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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:113 , 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	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
7	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
9	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
12	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
13	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
15	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
16	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
17	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
19	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:37721200-37731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:37721200-37737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:37721800-37731200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:37722000-37733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:37722200-37732200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:37722400-37743200	Weak transcription	Esophagus	oesophagus
27	chr5:37722800-37731400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:37723000-37737400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:37723200-37738200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:37723400-37736000	Weak transcription	K562	blood
31	chr5:37723400-37738200	Weak transcription	A549	lung
32	chr5:37723600-37737400	Weak transcription	HUVEC	blood vessel
33	chr5:37723800-37735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:37724000-37731200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:37724600-37738000	Weak transcription	NHEK	skin
36	chr5:37725000-37731400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr5:37725000-37738400	Weak transcription	HMEC	breast
38	chr5:37725200-37735600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:37725600-37735400	Weak transcription	NHDF-Ad	bronchial
40	chr5:37725600-37737800	Weak transcription	NHLF	lung
41	chr5:37725800-37731200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:37726000-37732000	Strong transcription	Adipose Nuclei	Adipose
43	chr5:37726200-37732800	Strong transcription	HSMM	muscle
44	chr5:37726400-37733600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:37726600-37731400	Strong transcription	Primary B cells from cord blood	blood
46	chr5:37726600-37731400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:37726800-37731400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:37726800-37731400	Strong transcription	Dnd41	blood
49	chr5:37727600-37737400	Weak transcription	Hela-S3	cervix
50	chr5:37727600-37737600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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