Variant report

Variant	rs72790207
Chromosome Location	chr5:118880421-118880422
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	chr5:118872062..118875418-chr5:118875456..118880778,4	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10051019	0.82[EUR][1000 genomes]
rs10073818	0.82[EUR][1000 genomes]
rs11539471	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746780	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748477	1.00[ASN][1000 genomes]
rs11748530	1.00[ASN][1000 genomes]
rs11952111	0.98[EUR][1000 genomes]
rs11957255	0.91[EUR][1000 genomes]
rs11959717	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388106	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17145469	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145471	0.91[EUR][1000 genomes]
rs17145473	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145475	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145476	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145477	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385942	1.00[AFR][1000 genomes]
rs2560717	0.87[EUR][1000 genomes]
rs2560718	0.89[EUR][1000 genomes]
rs28943596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338122	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850201	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3991755	1.00[ASN][1000 genomes]
rs4895194	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895195	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986996	1.00[ASN][1000 genomes]
rs56050317	1.00[ASN][1000 genomes]
rs56263494	1.00[ASN][1000 genomes]
rs56411336	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57218593	0.91[EUR][1000 genomes]
rs58354605	1.00[ASN][1000 genomes]
rs59034186	0.95[EUR][1000 genomes]
rs59119324	0.95[EUR][1000 genomes]
rs60497431	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60796985	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61093477	0.95[EUR][1000 genomes]
rs61412235	0.93[EUR][1000 genomes]
rs61457439	1.00[ASN][1000 genomes]
rs66462865	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66534333	0.93[EUR][1000 genomes]
rs66831568	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67990368	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68024523	0.93[EUR][1000 genomes]
rs68126620	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788165	1.00[AFR][1000 genomes]
rs72788177	0.82[EUR][1000 genomes]
rs72788186	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72788194	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788197	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788199	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790203	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790214	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790217	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790221	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790222	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327103	0.82[EUR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:118874800-118890200	Weak transcription	Fetal Heart	heart
4	chr5:118876400-118881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:118876600-118880600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:118877400-118881600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:118878600-118880800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:118878600-118882000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:118878800-118881000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:118878800-118881000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:118878800-118881000	Weak transcription	Brain Substantia Nigra	brain
12	chr5:118878800-118881400	Weak transcription	Gastric	stomach
13	chr5:118878800-118881600	Weak transcription	Dnd41	blood
14	chr5:118878800-118881800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:118878800-118885600	Weak transcription	Fetal Stomach	stomach
16	chr5:118878800-118886800	Weak transcription	Aorta	Aorta
17	chr5:118878800-118888600	Weak transcription	Ovary	ovary
18	chr5:118879000-118880600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:118879000-118880600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:118879000-118880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:118879000-118880600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:118879000-118880600	Weak transcription	Primary T cells from cord blood	blood
23	chr5:118879000-118880600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:118879000-118880600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:118879000-118880600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:118879000-118880600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:118879000-118880600	Weak transcription	Fetal Intestine Large	intestine
28	chr5:118879000-118880600	Weak transcription	Placenta	Placenta
29	chr5:118879000-118880600	Weak transcription	Psoas Muscle	Psoas
30	chr5:118879000-118880600	Weak transcription	Spleen	Spleen
31	chr5:118879000-118880600	Weak transcription	NH-A	brain
32	chr5:118879000-118880800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:118879000-118880800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:118879000-118880800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:118879000-118884200	Weak transcription	Lung	lung
36	chr5:118879000-118884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:118879000-118885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:118879000-118885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:118879000-118891200	Weak transcription	Pancreas	Pancrea
40	chr5:118879200-118880800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:118879200-118880800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:118879200-118880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:118879200-118880800	Weak transcription	Left Ventricle	heart
44	chr5:118879200-118881600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:118879200-118882000	Weak transcription	Liver	Liver
46	chr5:118879200-118887600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:118879200-118892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:118879400-118881000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:118879400-118883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:118880000-118881000	Enhancers	Brain Hippocampus Middle	brain

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