Variant report

Variant	rs73730437
Chromosome Location	chr6:36036512-36036513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36026222..36029241-chr6:36033953..36037841,5	K562	blood:
2	chr6:35994229..35997091-chr6:36033506..36037516,3	MCF-7	breast:
3	chr6:35995476..35997517-chr6:36035292..36036905,2	MCF-7	breast:
4	chr6:36035170..36039819-chr6:36042756..36047669,7	K562	blood:
5	chr6:36034762..36037596-chr6:36039909..36042459,2	K562	blood:
6	chr6:36020440..36023292-chr6:36035204..36037797,2	K562	blood:
7	chr6:36034469..36036807-chr6:36067746..36069264,2	K562	blood:
8	chr6:36019349..36024573-chr6:36034890..36038920,5	K562	blood:
9	chr6:36033505..36035161-chr6:36036109..36038565,2	MCF-7	breast:

No data

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:78)

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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884628	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884660	0.88[AFR][1000 genomes];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	0.90[AFR][1000 genomes];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	0.96[AFR][1000 genomes];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761980	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804451	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3804454	0.88[AFR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133220	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	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56362075	0.93[AFR][1000 genomes];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	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60100837	0.98[AFR][1000 genomes];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	0.89[AFR][1000 genomes];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	0.93[AFR][1000 genomes];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[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6908622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914570	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6930333	1.00[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	0.94[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407871	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73729685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73729698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73730459	0.92[EUR][1000 genomes]
rs7745082	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745927	1.00[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760405	0.83[EUR][1000 genomes]
rs7760578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761118	0.89[AFR][1000 genomes];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	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs73730437	SLC26A8	cis	Thyroid	GTEx
rs73730437	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:119 , 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	chr6:36020400-36047400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:36023000-36047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:36028200-36046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:36028200-36046600	Weak transcription	Fetal Stomach	stomach
8	chr6:36028200-36047200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:36028200-36047800	Weak transcription	Brain Germinal Matrix	brain
10	chr6:36028200-36048400	Weak transcription	Fetal Brain Female	brain
11	chr6:36028400-36047400	Weak transcription	Colonic Mucosa	Colon
12	chr6:36028400-36047800	Weak transcription	Lung	lung
13	chr6:36028600-36036600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:36028600-36043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:36028600-36046600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:36028600-36050200	Weak transcription	Spleen	Spleen
17	chr6:36028800-36043200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:36029200-36048000	Weak transcription	NH-A	brain
19	chr6:36029600-36041600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:36029600-36041800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:36029600-36043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:36029600-36047600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:36029800-36043800	Weak transcription	HMEC	breast
24	chr6:36030200-36042400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:36030800-36043200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:36031000-36042600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:36031400-36040600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:36031600-36037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:36031600-36037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:36031600-36041200	Weak transcription	Dnd41	blood
31	chr6:36032200-36036800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:36032200-36038200	Enhancers	Colon Smooth Muscle	Colon
33	chr6:36032400-36036600	Enhancers	Fetal Heart	heart
34	chr6:36032800-36040600	Weak transcription	HSMM	muscle
35	chr6:36032800-36041200	Weak transcription	Fetal Thymus	thymus
36	chr6:36032800-36043600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:36033000-36037400	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:36033000-36037600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:36033000-36039000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:36033000-36046600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:36033200-36037600	Enhancers	Fetal Intestine Large	intestine
42	chr6:36033200-36038400	Enhancers	Fetal Intestine Small	intestine
43	chr6:36033200-36043400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:36033200-36046800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:36033400-36038400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr6:36033400-36040800	Weak transcription	Hela-S3	cervix
47	chr6:36033400-36043400	Weak transcription	Placenta	Placenta
48	chr6:36033400-36044200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:36033400-36045600	Weak transcription	Left Ventricle	heart
50	chr6:36033400-36045600	Weak transcription	Pancreas	Pancrea

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