Variant report

Variant	rs6921999
Chromosome Location	chr6:36019928-36019929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35995121..35997063-chr6:36017762..36020309,2	MCF-7	breast:
2	chr6:36019349..36024573-chr6:36034890..36038920,5	K562	blood:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10456082	0.87[ASN][1000 genomes]
rs10456438	0.87[ASN][1000 genomes]
rs16883819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16883860	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16883989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884628	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884660	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[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];0.95[ASN][1000 genomes]
rs16884919	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967966	0.92[EUR][1000 genomes]
rs2237094	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2237096	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3730327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3730366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3761980	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3804451	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3804454	0.88[AFR][1000 genomes]
rs41271263	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044978	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56059109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56133220	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56156688	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56327416	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56362075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56413204	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56715462	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58390233	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58583792	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58690654	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60100837	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60342497	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60481532	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60909394	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61195139	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61212706	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61364424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61763101	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6457878	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6908622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6910685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6914570	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6930333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6932598	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6934216	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6936327	0.95[EUR][1000 genomes]
rs73407868	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73409842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73729685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73729698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73730437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73730440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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];0.95[ASN][1000 genomes]
rs7745536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7745927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7747846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7748078	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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];0.95[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];0.95[ASN][1000 genomes]
rs7761118	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7762483	0.95[EUR][1000 genomes]
rs7764494	0.92[EUR][1000 genomes]
rs7766032	0.95[EUR][1000 genomes];0.95[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	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7775290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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
rs6921999	SLC26A8	cis	Thyroid	GTEx
rs6921999	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35997600-36021800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:36000600-36020400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
7	chr6:36005400-36020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
9	chr6:36006600-36020000	Weak transcription	Dnd41	blood
10	chr6:36007200-36021600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:36007400-36021800	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:36007400-36027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:36008000-36021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr6:36008200-36022000	Weak transcription	Ovary	ovary
15	chr6:36008600-36022400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:36008600-36027600	Weak transcription	Brain Substantia Nigra	brain
17	chr6:36009000-36021000	Weak transcription	Liver	Liver
18	chr6:36010200-36020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:36012400-36021800	Weak transcription	Osteobl	bone
20	chr6:36014000-36020400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:36016200-36020200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:36016400-36020200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr6:36016800-36020000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:36016800-36020000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:36016800-36020400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr6:36016800-36024200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:36017000-36021200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:36017000-36021200	Weak transcription	Placenta	Placenta
29	chr6:36017200-36020400	Weak transcription	HUVEC	blood vessel
30	chr6:36017400-36020000	Enhancers	Spleen	Spleen
31	chr6:36017600-36020200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:36017600-36020400	Enhancers	Right Atrium	heart
33	chr6:36017800-36020600	Enhancers	Adipose Nuclei	Adipose
34	chr6:36017800-36029400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:36018000-36020000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:36018200-36020000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr6:36018200-36020200	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:36018200-36020400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:36018200-36027200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:36018200-36050000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:36018400-36020000	Enhancers	Fetal Muscle Leg	muscle
42	chr6:36018400-36020000	Enhancers	Left Ventricle	heart
43	chr6:36018400-36020200	Enhancers	Lung	lung
44	chr6:36018400-36020600	Weak transcription	Hela-S3	cervix
45	chr6:36018600-36020000	Weak transcription	GM12878-XiMat	blood
46	chr6:36018600-36020000	Enhancers	HMEC	breast
47	chr6:36018600-36020400	Weak transcription	Fetal Thymus	thymus
48	chr6:36018600-36021000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:36018600-36021200	Weak transcription	K562	blood
50	chr6:36018600-36021600	Weak transcription	Primary B cells from cord blood	blood

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