Variant report

Variant	rs56133220
Chromosome Location	chr6:36032668-36032669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35992836..35995217-chr6:36030418..36034418,3	K562	blood:
2	chr6:36030323..36033293-chr6:36238320..36240861,2	K562	blood:
3	chr6:36005811..36007501-chr6:36031896..36034665,2	MCF-7	breast:
4	chr6:35995272..35997299-chr6:36031658..36035597,3	K562	blood:
5	chr6:35993717..35997299-chr6:36030418..36035597,4	K562	blood:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

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	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884628	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884660	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884694	0.89[EUR][1000 genomes]
rs16884857	0.95[EUR][1000 genomes]
rs16884906	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884919	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967966	0.92[EUR][1000 genomes]
rs2237094	0.94[ASN][1000 genomes]
rs2237096	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761980	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804451	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41271263	0.93[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156688	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56327416	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56362075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56413204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56715462	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58390233	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58583792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58690654	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60100837	1.00[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60909394	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61195139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61212706	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61364424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61763101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457878	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908622	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914570	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921999	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6930333	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932598	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936327	0.95[EUR][1000 genomes]
rs73407868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407870	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407871	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409842	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73729685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73729698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730437	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730459	0.92[EUR][1000 genomes]
rs7745082	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745536	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7748078	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752459	0.92[EUR][1000 genomes]
rs7759175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760405	0.83[EUR][1000 genomes]
rs7760578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761118	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762483	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	0.95[EUR][1000 genomes]
rs7772088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775290	1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56133220	SLC26A8	cis	Thyroid	GTEx
rs56133220	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
2	chr6:36018200-36050000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:36020000-36033800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr6:36020400-36033000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:36020400-36047400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:36021600-36033200	Weak transcription	Fetal Brain Male	brain
7	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:36023000-36047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:36024200-36033800	Strong transcription	Primary B cells from cord blood	blood
10	chr6:36026400-36032800	Strong transcription	Fetal Thymus	thymus
11	chr6:36028000-36032800	Weak transcription	Ovary	ovary
12	chr6:36028000-36032800	Weak transcription	Right Ventricle	heart
13	chr6:36028200-36032800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:36028200-36033000	Weak transcription	Gastric	stomach
15	chr6:36028200-36046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:36028200-36046600	Weak transcription	Fetal Stomach	stomach
17	chr6:36028200-36047200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:36028200-36047800	Weak transcription	Brain Germinal Matrix	brain
19	chr6:36028200-36048400	Weak transcription	Fetal Brain Female	brain
20	chr6:36028400-36047400	Weak transcription	Colonic Mucosa	Colon
21	chr6:36028400-36047800	Weak transcription	Lung	lung
22	chr6:36028600-36032800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:36028600-36032800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:36028600-36033200	Weak transcription	HSMMtube	muscle
25	chr6:36028600-36033800	Weak transcription	Brain Anterior Caudate	brain
26	chr6:36028600-36035200	Weak transcription	NHEK	skin
27	chr6:36028600-36036600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:36028600-36043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:36028600-36046600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:36028600-36050200	Weak transcription	Spleen	Spleen
31	chr6:36028800-36033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:36028800-36043200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:36029200-36048000	Weak transcription	NH-A	brain
34	chr6:36029400-36033200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:36029600-36033200	Weak transcription	NHLF	lung
36	chr6:36029600-36041600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:36029600-36041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:36029600-36043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:36029600-36047600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:36029800-36032800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:36029800-36043800	Weak transcription	HMEC	breast
42	chr6:36030000-36035200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:36030200-36034400	Weak transcription	HUVEC	blood vessel
44	chr6:36030200-36042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:36030600-36032800	Strong transcription	HSMM	muscle
46	chr6:36030600-36033000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:36030600-36034400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:36030800-36033000	Genic enhancers	Primary T cells from cord blood	blood
49	chr6:36030800-36033600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:36030800-36034000	Enhancers	Skeletal Muscle Female	skeletal muscle

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