Variant report

Variant	rs58583792
Chromosome Location	chr6:36000702-36000703
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35998756..36001423-chr6:36089010..36091186,2	MCF-7	breast:
2	chr6:35998987..36001694-chr6:36072794..36074900,2	MCF-7	breast:
3	chr6:36000250..36001867-chr6:36022118..36025026,2	K562	blood:
4	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:

Variant related genes	Relation type
ENSG00000237719	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10456082	0.92[ASN][1000 genomes]
rs10456438	0.92[ASN][1000 genomes]
rs12204910	0.83[ASN][1000 genomes]
rs12206103	0.81[ASN][1000 genomes]
rs16883819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883860	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883989	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884628	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884660	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884694	0.89[EUR][1000 genomes]
rs16884857	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs16884906	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884919	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967966	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2237094	0.94[ASN][1000 genomes]
rs2237096	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730327	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730366	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761980	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804451	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41271263	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55878630	0.83[ASN][1000 genomes]
rs56044978	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56059109	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133220	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156688	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56327416	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56362075	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413204	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56715462	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58390233	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58690654	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60100837	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60342497	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60481532	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60909394	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61195139	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61212706	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61364424	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763101	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457878	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908622	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910685	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914570	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921999	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6930333	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932598	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934216	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936327	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73407868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407871	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407876	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409842	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73729685	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73729698	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730437	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730440	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730459	0.92[EUR][1000 genomes]
rs7745082	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745536	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748078	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752459	0.92[EUR][1000 genomes]
rs7759175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760405	0.83[EUR][1000 genomes]
rs7760578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761118	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762483	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7764494	0.92[EUR][1000 genomes]
rs7766032	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769981	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7770183	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7771484	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7772088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775290	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs58583792	SLC26A8	cis	Nerve Tibial	GTEx
rs58583792	SLC26A8	cis	Thyroid	GTEx
rs58583792	SLC26A8	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35996800-36001200	Weak transcription	Esophagus	oesophagus
2	chr6:35996800-36001200	Weak transcription	Gastric	stomach
3	chr6:35997400-36002400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:35997400-36002400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:35997400-36004000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:35997600-36001400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:35997600-36001400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:35997600-36001400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:35997600-36001400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:35997600-36001400	Weak transcription	Ovary	ovary
11	chr6:35997600-36001800	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:35997600-36002000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:35997600-36002800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:35997600-36003200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:35997600-36004200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:35997600-36005400	Weak transcription	Aorta	Aorta
17	chr6:35997600-36005400	Weak transcription	Left Ventricle	heart
18	chr6:35997600-36008800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr6:35997600-36010800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:35997800-36001400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:35997800-36001400	Weak transcription	Right Atrium	heart
23	chr6:35998000-36001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:35998000-36001600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:35998000-36001600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:35998000-36001600	Weak transcription	A549	lung
27	chr6:35998000-36001800	Weak transcription	NH-A	brain
28	chr6:35998000-36003200	Weak transcription	Right Ventricle	heart
29	chr6:35998000-36003800	Enhancers	Colon Smooth Muscle	Colon
30	chr6:35998000-36004400	Enhancers	Fetal Lung	lung
31	chr6:35998000-36007400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr6:35998000-36019200	Weak transcription	HSMM	muscle
33	chr6:35998200-36001400	Weak transcription	HMEC	breast
34	chr6:35998200-36001400	Weak transcription	NHEK	skin
35	chr6:35998200-36001400	Weak transcription	Osteobl	bone
36	chr6:35998200-36001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:35998200-36001600	Weak transcription	Brain Germinal Matrix	brain
38	chr6:35998200-36001600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:35998200-36001600	Enhancers	HepG2	liver
40	chr6:35998200-36002200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:35998200-36002600	Enhancers	Liver	Liver
42	chr6:35998200-36006000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:35998200-36006600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:35998200-36018400	Weak transcription	NHLF	lung
45	chr6:35998200-36018600	Weak transcription	NHDF-Ad	bronchial
46	chr6:35998400-36000800	Enhancers	Hela-S3	cervix
47	chr6:35998400-36001600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:35998400-36003800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr6:35998600-36002000	Enhancers	Primary T cells from cord blood	blood
50	chr6:35998600-36002600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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