Variant report

Variant	rs72743164
Chromosome Location	chr5:37698374-37698375
allele	A/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	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55633811	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55654436	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003317	0.87[EUR][1000 genomes]
rs56279820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898254	0.86[EUR][1000 genomes]
rs6451341	0.86[EUR][1000 genomes]
rs67885658	1.00[EUR][1000 genomes]
rs72740972	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740973	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740974	0.84[AMR][1000 genomes]
rs72740975	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740978	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740981	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740983	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740989	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740990	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72740991	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72743159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743166	0.88[EUR][1000 genomes]
rs72743167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743169	1.00[EUR][1000 genomes]
rs72743170	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743176	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743180	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743185	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743187	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743190	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743192	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743193	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743196	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743200	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743201	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72743202	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745106	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72745108	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7448783	0.86[EUR][1000 genomes]
rs7705963	0.86[EUR][1000 genomes]
rs7709969	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7722257	0.86[EUR][1000 genomes]
rs7737640	0.86[EUR][1000 genomes]
rs9283746	0.84[AMR][1000 genomes];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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37684400-37700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:37684400-37705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:37685200-37743200	Weak transcription	Gastric	stomach
4	chr5:37685400-37717600	Weak transcription	Pancreas	Pancrea
5	chr5:37685600-37711200	Weak transcription	Fetal Stomach	stomach
6	chr5:37685600-37727000	Weak transcription	Lung	lung
7	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
11	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:37692200-37721200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:37693800-37705200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:37694600-37698400	Weak transcription	Dnd41	blood
15	chr5:37694800-37698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:37694800-37698400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:37695200-37716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:37695400-37698400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:37695400-37706000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:37695400-37715600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:37695400-37722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:37695600-37698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:37695600-37702000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:37695600-37703000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:37695600-37706400	Weak transcription	Liver	Liver
26	chr5:37695600-37721200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:37695800-37705200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:37696000-37717000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:37696200-37709800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:37696400-37698400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:37696400-37717200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:37696600-37700200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:37696600-37704600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:37696800-37703000	Weak transcription	Fetal Lung	lung
35	chr5:37696800-37710400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:37696800-37711200	Weak transcription	HSMMtube	muscle
37	chr5:37696800-37717000	Weak transcription	HSMM	muscle
38	chr5:37696800-37717400	Weak transcription	Small Intestine	intestine
39	chr5:37696800-37722800	Weak transcription	Psoas Muscle	Psoas
40	chr5:37697000-37698400	Weak transcription	Primary T cells from cord blood	blood
41	chr5:37697000-37698400	Weak transcription	Ovary	ovary
42	chr5:37697000-37705800	Weak transcription	Brain Anterior Caudate	brain
43	chr5:37697000-37706000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:37697000-37717000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr5:37697000-37721400	Weak transcription	Fetal Thymus	thymus
46	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:37697200-37702400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:37697200-37710400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:37697200-37710400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:37697200-37717000	Weak transcription	NH-A	brain

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