Variant report

Variant	rs16883819
Chromosome Location	chr6:35997768-35997769
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35992919..35998420-chr6:36043527..36047632,6	K562	blood:
2	chr6:35995409..35998293-chr6:36169969..36172961,2	K562	blood:
3	chr10:21562216..21562789-chr6:35997191..35997782,2	HCT-116	colon:
4	chr6:35992707..35998254-chr6:36162958..36166458,7	K562	blood:
5	chr6:35994574..35998335-chr6:36060182..36063184,5	MCF-7	breast:
6	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:
7	chr6:35993265..35998448-chr6:36161633..36166981,11	K562	blood:
8	chr2:11620746..11622950-chr6:35997193..35998902,2	MCF-7	breast:
9	chr6:35994000..35997973-chr6:36041645..36047090,8	K562	blood:
10	chr6:35996936..35998552-chr6:36020582..36023178,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237719	Chromatin interaction
ENSG00000112062	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000246982	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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10456438	0.92[ASN][1000 genomes]
rs12204910	0.83[ASN][1000 genomes]
rs12206103	0.81[ASN][1000 genomes]
rs16883860	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884660	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884694	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs16884857	0.95[EUR][1000 genomes]
rs16884906	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884919	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967966	0.92[EUR][1000 genomes]
rs2237094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2237096	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730327	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730366	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761980	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804451	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41271263	0.87[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	0.96[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]
rs58583792	0.84[AFR][1000 genomes];1.00[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	0.96[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	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];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	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936327	0.95[EUR][1000 genomes]
rs73407868	0.85[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	0.87[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	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745536	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7759175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760405	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs7760578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761118	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762483	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7764494	0.91[CEU][hapmap];0.86[CHB][hapmap];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	0.89[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7771484	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs7772088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775290	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16883819	SLC26A8	cis	Thyroid	GTEx
rs16883819	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35994800-35997800	Active TSS	Hela-S3	cervix
2	chr6:35995000-35997800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:35995000-35997800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:35995000-35997800	Active TSS	Fetal Intestine Small	intestine
5	chr6:35995000-35997800	Active TSS	HSMMtube	muscle
6	chr6:35995000-35998000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:35995000-35998000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:35995000-35998000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:35995000-35998000	Active TSS	A549	lung
10	chr6:35995000-35998000	Active TSS	HSMM	muscle
11	chr6:35995000-35998200	Active TSS	Stomach Smooth Muscle	stomach
12	chr6:35995000-35998200	Active TSS	HMEC	breast
13	chr6:35995000-35998200	Active TSS	NHLF	lung
14	chr6:35995000-35998400	Active TSS	Psoas Muscle	Psoas
15	chr6:35995000-35998400	Active TSS	Rectal Smooth Muscle	rectum
16	chr6:35995000-35998400	Active TSS	GM12878-XiMat	blood
17	chr6:35995000-35998600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:35995000-35998600	Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:35995000-35998800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:35995200-35997800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:35995200-35997800	Active TSS	Fetal Stomach	stomach
22	chr6:35995200-35998000	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr6:35995200-35998000	Active TSS	Fetal Intestine Large	intestine
24	chr6:35995200-35998200	Active TSS	NHDF-Ad	bronchial
25	chr6:35995200-35998400	Active TSS	Thymus	Thymus
26	chr6:35995200-35998600	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:35995400-35997800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:35995400-35997800	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr6:35995400-35997800	Active TSS	Colon Smooth Muscle	Colon
30	chr6:35995400-35997800	Active TSS	Fetal Thymus	thymus
31	chr6:35995400-35998000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:35995400-35998000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:35995400-35998000	Active TSS	Right Ventricle	heart
34	chr6:35995600-35997800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:35996200-35997800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:35996200-35998600	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr6:35996400-35997800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:35996400-35997800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:35996400-35997800	Active TSS	Right Atrium	heart
40	chr6:35996400-35997800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:35996800-35998000	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr6:35996800-35998200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:35996800-36001200	Weak transcription	Esophagus	oesophagus
44	chr6:35996800-36001200	Weak transcription	Gastric	stomach
45	chr6:35997000-35997800	Active TSS	HepG2	liver
46	chr6:35997000-35998200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr6:35997000-35998200	Weak transcription	Pancreas	Pancrea
48	chr6:35997000-35998400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:35997000-35998800	Weak transcription	Lung	lung
50	chr6:35997000-35999000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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