Variant report

Variant	rs60481532
Chromosome Location	chr6:35994942-35994943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr6:35994898-35995800	K562	blood:	n/a	n/a
2	CTCF	chr6:35994860-35995010	BJ	skin:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35993372..35995474-chr6:36048544..36050662,2	K562	blood:
2	chr11:62430663..62433380-chr6:35994496..35996119,2	MCF-7	breast:
3	chr6:35886849..35889245-chr6:35993978..35995751,2	MCF-7	breast:
4	chr6:35992919..35998420-chr6:36043527..36047632,6	K562	blood:
5	chr6:35993989..35997402-chr6:36163188..36166883,8	MCF-7	breast:
6	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
7	chr6:35994574..35998335-chr6:36060182..36063184,5	MCF-7	breast:
8	chr6:35887479..35890120-chr6:35993309..35995768,2	K562	blood:
9	chr6:35992836..35995217-chr6:36030418..36034418,3	K562	blood:
10	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:
11	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
12	chr6:35994000..35997973-chr6:36041645..36047090,8	K562	blood:
13	chr6:35993804..35995388-chr6:36064121..36065946,2	MCF-7	breast:
14	chr6:35994813..35995763-chr6:36043484..36044201,2	K562	blood:
15	chr6:35994900..35995407-chr6:36091361..36092019,2	MCF-7	breast:
16	chr6:35994747..35997169-chr6:36562025..36564113,2	K562	blood:

No data

Variant related genes	Relation type
MAPK14	TF binding region
SLC26A8	TF binding region
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000096063	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000112081	Chromatin interaction
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	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10456438	0.88[ASN][1000 genomes]
rs12204910	0.85[ASN][1000 genomes]
rs12206103	0.82[ASN][1000 genomes]
rs16883819	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16883860	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16883989	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884628	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884660	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884694	0.89[EUR][1000 genomes]
rs16884857	0.95[EUR][1000 genomes]
rs16884906	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16884919	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1967966	0.92[EUR][1000 genomes]
rs2237094	0.85[ASN][1000 genomes]
rs2237096	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3730327	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3730366	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761980	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804451	0.92[EUR][1000 genomes]
rs41271263	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55878630	0.85[ASN][1000 genomes]
rs56044978	0.92[EUR][1000 genomes]
rs56059109	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56133220	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56156688	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56327416	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56362075	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56413204	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56715462	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58390233	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58583792	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58690654	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60100837	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60342497	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60909394	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61195139	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61212706	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61364424	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61763101	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6457878	0.90[EUR][1000 genomes]
rs6908622	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6910685	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6914570	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6921999	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6930333	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6932598	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6934216	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6936327	0.95[EUR][1000 genomes]
rs73407868	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73407870	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73407871	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73407876	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73409842	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73729685	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73729698	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73730437	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73730440	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73730459	0.92[EUR][1000 genomes]
rs7745082	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7745536	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7745927	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7747846	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7748078	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7752459	0.92[EUR][1000 genomes]
rs7759175	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7760405	0.83[EUR][1000 genomes]
rs7760578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7761118	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7762483	0.95[EUR][1000 genomes]
rs7764494	0.92[EUR][1000 genomes]
rs7766032	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7769981	0.92[EUR][1000 genomes]
rs7770183	0.92[EUR][1000 genomes]
rs7771484	0.95[EUR][1000 genomes]
rs7772088	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7775290	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[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
rs60481532	SLC26A8	cis	Nerve Tibial	GTEx
rs60481532	SLC26A8	cis	Adipose Subcutaneous	GTEx
rs60481532	SLC26A8	cis	Thyroid	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35992400-35995000	Weak transcription	Colonic Mucosa	Colon
2	chr6:35992400-35995400	Weak transcription	Esophagus	oesophagus
3	chr6:35992400-35995400	Weak transcription	Lung	lung
4	chr6:35992400-35995400	Weak transcription	Right Atrium	heart
5	chr6:35992600-35995000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:35992600-35995000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:35992600-35995000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:35992600-35995000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:35992600-35995000	Weak transcription	HMEC	breast
10	chr6:35992600-35995000	Enhancers	HUVEC	blood vessel
11	chr6:35992600-35995400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:35992600-35995400	Weak transcription	Brain Angular Gyrus	brain
13	chr6:35992600-35995400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:35992600-35995400	Weak transcription	Gastric	stomach
15	chr6:35992600-35995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:35992800-35995000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr6:35992800-35995000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:35992800-35995000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:35992800-35995000	Weak transcription	Brain Anterior Caudate	brain
20	chr6:35992800-35995000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:35992800-35995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:35992800-35995000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr6:35992800-35995000	Weak transcription	Thymus	Thymus
24	chr6:35992800-35995000	Weak transcription	NHEK	skin
25	chr6:35992800-35995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:35992800-35995600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:35993000-35995000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:35993000-35995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:35993000-35995000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:35993000-35995000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:35993000-35995000	Weak transcription	Fetal Thymus	thymus
32	chr6:35993000-35995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:35993000-35995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:35993000-35995400	Weak transcription	Spleen	Spleen
35	chr6:35993200-35995000	Enhancers	Osteobl	bone
36	chr6:35993400-35995000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr6:35993400-35995000	Enhancers	HepG2	liver
38	chr6:35993600-35995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:35993600-35995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:35993800-35995000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:35993800-35995000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:35993800-35995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:35994000-35995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:35994000-35995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:35994200-35995000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:35994200-35995000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:35994200-35995000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:35994200-35995000	Enhancers	K562	blood
49	chr6:35994200-35995200	Weak transcription	Ovary	ovary
50	chr6:35994200-35995400	Weak transcription	H9 Cell Line	embryonic stem cell

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