Variant report

Variant	rs73729685
Chromosome Location	chr6:36011073-36011074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10456082	0.88[ASN][1000 genomes]
rs10456438	0.88[ASN][1000 genomes]
rs16883819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16883860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16883989	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16884628	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16884660	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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];0.96[ASN][1000 genomes]
rs16884919	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1967966	0.92[EUR][1000 genomes]
rs2237094	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2237096	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3730327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3730366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761980	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804451	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41271263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56044978	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56059109	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56133220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56156688	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56327416	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56362075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56413204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56715462	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58390233	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58583792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58690654	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60100837	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60342497	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60481532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60909394	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61195139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61212706	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61364424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61763101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6457878	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6908622	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6910685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6914570	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6921999	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6930333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932598	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6934216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936327	0.95[EUR][1000 genomes]
rs73407868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73407870	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73407871	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73407876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73409842	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73729698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73730437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73730440	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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];0.96[ASN][1000 genomes]
rs7745536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7745927	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7748078	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7752459	0.92[EUR][1000 genomes]
rs7759175	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7760405	0.83[EUR][1000 genomes]
rs7760578	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7761118	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7762483	0.95[EUR][1000 genomes]
rs7764494	0.92[EUR][1000 genomes]
rs7766032	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7769981	0.92[EUR][1000 genomes]
rs7770183	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7771484	0.95[EUR][1000 genomes]
rs7772088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7775290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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
rs73729685	SLC26A8	cis	Nerve Tibial	GTEx
rs73729685	SLC26A8	cis	Thyroid	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:35998000-36019200	Weak transcription	HSMM	muscle
3	chr6:35998200-36018400	Weak transcription	NHLF	lung
4	chr6:35998200-36018600	Weak transcription	NHDF-Ad	bronchial
5	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:36003800-36014600	Weak transcription	Gastric	stomach
10	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
11	chr6:36005400-36020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:36006200-36013400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:36006200-36017800	Weak transcription	Hela-S3	cervix
14	chr6:36006200-36019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:36006400-36019200	Weak transcription	Right Ventricle	heart
16	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
17	chr6:36006600-36011400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:36006600-36016200	Weak transcription	Thymus	Thymus
19	chr6:36006600-36016400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:36006600-36016400	Weak transcription	Right Atrium	heart
21	chr6:36006600-36018200	Weak transcription	Fetal Thymus	thymus
22	chr6:36006600-36019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:36006600-36020000	Weak transcription	Dnd41	blood
24	chr6:36006800-36011800	Weak transcription	Osteobl	bone
25	chr6:36007000-36017000	Weak transcription	GM12878-XiMat	blood
26	chr6:36007200-36012200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:36007200-36014600	Weak transcription	K562	blood
28	chr6:36007200-36016800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:36007200-36017400	Weak transcription	Primary B cells from cord blood	blood
30	chr6:36007200-36018200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:36007200-36021600	Weak transcription	Brain Anterior Caudate	brain
32	chr6:36007400-36012200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:36007400-36012600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:36007400-36012600	Weak transcription	Fetal Heart	heart
35	chr6:36007400-36017400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:36007400-36019200	Weak transcription	Fetal Lung	lung
37	chr6:36007400-36019400	Weak transcription	Fetal Stomach	stomach
38	chr6:36007400-36021800	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:36007400-36027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:36007800-36012600	Weak transcription	Left Ventricle	heart
41	chr6:36008000-36012200	Weak transcription	Small Intestine	intestine
42	chr6:36008000-36021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:36008200-36014800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:36008200-36022000	Weak transcription	Ovary	ovary
45	chr6:36008400-36018200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:36008600-36011800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:36008600-36012600	Weak transcription	Fetal Intestine Large	intestine
48	chr6:36008600-36014600	Weak transcription	Psoas Muscle	Psoas
49	chr6:36008600-36016200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:36008600-36016600	Weak transcription	Primary T cells from cord blood	blood

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