Variant report

Variant	rs73730459
Chromosome Location	chr6:36085003-36085004
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36082897..36086209-chr6:36163337..36166461,3	MCF-7	breast:
2	chr6:35995403..35997121-chr6:36084938..36086468,2	K562	blood:
3	chr6:35995368..35997514-chr6:36082731..36086570,3	MCF-7	breast:
4	chr6:36084210..36086558-chr6:36391180..36393773,2	K562	blood:
5	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
6	chr6:36074612..36076975-chr6:36081274..36085326,4	K562	blood:
7	chr6:36077863..36080444-chr6:36082662..36085280,4	K562	blood:
8	chr6:36084320..36086467-chr6:36099428..36101090,2	MCF-7	breast:
9	chr6:36083349..36090492-chr6:36162486..36165995,10	K562	blood:
10	chr6:36065903..36068557-chr6:36084761..36087937,3	K562	blood:
11	chr6:36069399..36071827-chr6:36084896..36086577,2	K562	blood:
12	chr6:35887708..35890189-chr6:36084922..36087566,2	MCF-7	breast:
13	chr6:36068703..36074391-chr6:36083766..36088093,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000096070	Chromatin interaction
ENSG00000096063	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs16883819	0.92[EUR][1000 genomes]
rs16883860	0.92[EUR][1000 genomes]
rs16883989	0.92[EUR][1000 genomes]
rs16884628	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884660	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884694	0.90[EUR][1000 genomes]
rs16884857	0.97[EUR][1000 genomes]
rs16884906	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884919	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1967966	1.00[EUR][1000 genomes]
rs2237096	0.92[EUR][1000 genomes]
rs3730327	0.92[EUR][1000 genomes]
rs3730366	0.92[EUR][1000 genomes]
rs3761980	0.92[EUR][1000 genomes]
rs3804451	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41271263	0.92[EUR][1000 genomes]
rs56044978	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56059109	0.92[EUR][1000 genomes]
rs56133220	0.92[EUR][1000 genomes]
rs56156688	0.92[EUR][1000 genomes]
rs56327416	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56362075	0.92[EUR][1000 genomes]
rs56413204	0.92[EUR][1000 genomes]
rs56715462	0.92[EUR][1000 genomes]
rs58390233	0.92[EUR][1000 genomes]
rs58583792	0.92[EUR][1000 genomes]
rs58690654	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60100837	0.92[EUR][1000 genomes]
rs60342497	0.89[EUR][1000 genomes]
rs60481532	0.92[EUR][1000 genomes]
rs60909394	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61195139	0.92[EUR][1000 genomes]
rs61212706	0.92[EUR][1000 genomes]
rs61364424	0.92[EUR][1000 genomes]
rs61763101	0.92[EUR][1000 genomes]
rs6457878	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6908622	0.92[EUR][1000 genomes]
rs6910685	0.92[EUR][1000 genomes]
rs6914570	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6921999	0.92[EUR][1000 genomes]
rs6930333	0.90[EUR][1000 genomes]
rs6932598	0.92[EUR][1000 genomes]
rs6934216	0.92[EUR][1000 genomes]
rs6936327	0.97[EUR][1000 genomes]
rs73407868	0.90[EUR][1000 genomes]
rs73407870	0.92[EUR][1000 genomes]
rs73407871	0.92[EUR][1000 genomes]
rs73407876	0.92[EUR][1000 genomes]
rs73409842	0.92[EUR][1000 genomes]
rs73729685	0.92[EUR][1000 genomes]
rs73729698	0.92[EUR][1000 genomes]
rs73730437	0.92[EUR][1000 genomes]
rs73730440	0.92[EUR][1000 genomes]
rs7745082	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7745536	0.92[EUR][1000 genomes]
rs7745927	0.92[EUR][1000 genomes]
rs7747846	0.92[EUR][1000 genomes]
rs7748078	0.92[EUR][1000 genomes]
rs7752459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7759175	0.92[EUR][1000 genomes]
rs7760405	0.90[EUR][1000 genomes]
rs7760578	0.92[EUR][1000 genomes]
rs7761118	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7762483	0.97[EUR][1000 genomes]
rs7764494	1.00[EUR][1000 genomes]
rs7766032	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7769981	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770183	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7771484	0.97[EUR][1000 genomes]
rs7772088	0.92[EUR][1000 genomes]
rs7775290	0.92[EUR][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
rs73730459	SLC26A8	cis	Thyroid	GTEx
rs73730459	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:36074800-36085400	Strong transcription	Fetal Stomach	stomach
5	chr6:36074800-36085600	Strong transcription	Fetal Intestine Small	intestine
6	chr6:36076600-36088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:36076600-36088600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:36077000-36086200	Weak transcription	Esophagus	oesophagus
9	chr6:36077200-36085800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:36077200-36086000	Weak transcription	Small Intestine	intestine
11	chr6:36077200-36088400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:36077200-36088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:36077200-36088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:36077200-36088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:36077200-36088800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:36077200-36094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
18	chr6:36077400-36094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
20	chr6:36077600-36089000	Weak transcription	A549	lung
21	chr6:36078000-36088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:36078400-36088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:36078400-36088400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:36078400-36088400	Weak transcription	NHLF	lung
25	chr6:36078400-36092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:36078600-36088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:36078600-36091400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:36078800-36087800	Weak transcription	HUVEC	blood vessel
29	chr6:36079000-36088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:36079200-36088000	Weak transcription	Fetal Kidney	kidney
31	chr6:36079200-36088800	Weak transcription	NH-A	brain
32	chr6:36079600-36088400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:36079600-36088400	Weak transcription	NHEK	skin
34	chr6:36079600-36088600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:36079600-36088800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:36079600-36088800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:36079600-36089000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:36079600-36089000	Weak transcription	HMEC	breast
39	chr6:36079600-36091400	Weak transcription	Right Ventricle	heart
40	chr6:36079600-36092600	Weak transcription	Brain Germinal Matrix	brain
41	chr6:36079600-36094400	Weak transcription	Hela-S3	cervix
42	chr6:36079800-36085400	Weak transcription	Gastric	stomach
43	chr6:36079800-36085800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:36079800-36086200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:36079800-36086400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:36079800-36088400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:36079800-36088800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:36080000-36088200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr6:36080200-36086200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:36080200-36086200	Weak transcription	Lung	lung

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