Variant report

Variant	rs58929719
Chromosome Location	chr18:8050313-8050314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs16952771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952773	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952776	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16952871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4306631	1.00[EUR][1000 genomes]
rs4356582	1.00[EUR][1000 genomes]
rs4633832	1.00[EUR][1000 genomes]
rs57135719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60102079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60767363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60825749	1.00[EUR][1000 genomes]
rs7230272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7230992	1.00[EUR][1000 genomes]
rs7237788	1.00[EUR][1000 genomes]
rs7245244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73379949	1.00[EUR][1000 genomes]
rs73381850	1.00[EUR][1000 genomes]
rs73381854	1.00[EUR][1000 genomes]
rs73381859	1.00[EUR][1000 genomes]
rs73381860	1.00[EUR][1000 genomes]
rs73381869	1.00[EUR][1000 genomes]
rs73381871	1.00[EUR][1000 genomes]
rs73381878	1.00[EUR][1000 genomes]
rs73381887	1.00[EUR][1000 genomes]
rs73385609	1.00[EUR][1000 genomes]
rs73385613	1.00[EUR][1000 genomes]
rs73385621	1.00[EUR][1000 genomes]
rs73385641	1.00[EUR][1000 genomes]
rs73385646	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385657	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385662	1.00[EUR][1000 genomes]
rs73385668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385701	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73387757	1.00[EUR][1000 genomes]
rs8083556	1.00[EUR][1000 genomes]
rs8097080	1.00[AMR][1000 genomes];1.00[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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv909359	chr18:8001853-8064021	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8021200-8052000	Weak transcription	Psoas Muscle	Psoas
2	chr18:8030000-8056400	Weak transcription	Pancreas	Pancrea
3	chr18:8043200-8052000	Weak transcription	Right Atrium	heart
4	chr18:8043400-8050800	Weak transcription	Right Ventricle	heart
5	chr18:8043400-8052000	Weak transcription	Ovary	ovary
6	chr18:8044600-8052200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:8045800-8050800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr18:8045800-8051200	Weak transcription	Osteobl	bone
9	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr18:8046600-8050600	Weak transcription	Primary T cells from cord blood	blood
11	chr18:8046600-8050800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:8048200-8050800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:8048200-8054200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:8048600-8051200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr18:8048800-8051000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr18:8048800-8051200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr18:8049000-8051200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:8049000-8051200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:8049200-8052200	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:8049400-8050800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr18:8049600-8050600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr18:8049600-8050600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr18:8049600-8051200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8049600-8052400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:8049600-8053000	Enhancers	A549	lung
27	chr18:8049800-8051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:8050000-8050400	Weak transcription	Left Ventricle	heart
29	chr18:8050000-8050600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr18:8050000-8052000	Weak transcription	Lung	lung
31	chr18:8050200-8051000	Enhancers	Gastric	stomach
32	chr18:8050200-8051200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:8050200-8052000	Enhancers	Fetal Lung	lung
34	chr18:8050200-8052600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:8050200-8052800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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