Variant report

Variant	rs3730327
Chromosome Location	chr6:36027142-36027143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36027000..36029241-chr6:36033953..36035939,2	K562	blood:
2	chr6:36026222..36029241-chr6:36033953..36037841,5	K562	blood:
3	chr6:35995175..35997907-chr6:36024774..36027631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10456082	1.00[CHB][hapmap];0.95[CHD][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]
rs16883819	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]
rs16883860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884694	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16884857	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs16884906	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16884919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967966	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2237094	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][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]
rs3730366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41271263	1.00[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	0.92[AFR][1000 genomes];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	0.94[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	0.86[AFR][1000 genomes];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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];1.00[TSI][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	1.00[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	1.00[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	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73407868	0.98[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	1.00[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745536	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]
rs7745927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747846	0.81[AFR][1000 genomes];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	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7759175	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760405	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs7760578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762483	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7764494	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7771484	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7772088	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775290	1.00[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3730327	SLC26A8	cis	Adipose Subcutaneous	GTEx
rs3730327	SLC26A8	cis	Nerve Tibial	GTEx
rs3730327	SLC26A8	cis	cerebellum	SCAN
rs3730327	SLC26A8	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35999000-36027600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:36000600-36027400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:36003200-36027200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:36003800-36027600	Weak transcription	Colonic Mucosa	Colon
5	chr6:36006400-36039800	Weak transcription	Esophagus	oesophagus
6	chr6:36007400-36027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:36008600-36027600	Weak transcription	Brain Substantia Nigra	brain
8	chr6:36017800-36029400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:36018200-36027200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:36018200-36050000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:36018600-36027200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:36018800-36027400	Weak transcription	NHEK	skin
13	chr6:36019000-36027600	Weak transcription	Brain Germinal Matrix	brain
14	chr6:36019400-36027200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:36019400-36027200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:36019400-36032600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:36019600-36027400	Weak transcription	Pancreas	Pancrea
18	chr6:36019600-36027400	Weak transcription	Right Ventricle	heart
19	chr6:36019600-36027600	Weak transcription	Gastric	stomach
20	chr6:36019800-36031600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr6:36020000-36027200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr6:36020000-36027200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:36020000-36027400	Weak transcription	Spleen	Spleen
24	chr6:36020000-36027600	Weak transcription	A549	lung
25	chr6:36020000-36033800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:36020200-36027600	Weak transcription	NHLF	lung
27	chr6:36020400-36032600	Weak transcription	Right Atrium	heart
28	chr6:36020400-36033000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:36020400-36047400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:36020600-36027200	Weak transcription	Adipose Nuclei	Adipose
31	chr6:36020800-36029200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:36021200-36027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:36021600-36027200	Weak transcription	HMEC	breast
34	chr6:36021600-36033200	Weak transcription	Fetal Brain Male	brain
35	chr6:36021800-36027200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:36022000-36027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:36022000-36027200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr6:36022000-36032200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:36022200-36027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr6:36022200-36027200	Weak transcription	Brain Anterior Caudate	brain
42	chr6:36022200-36027200	Weak transcription	Fetal Brain Female	brain
43	chr6:36022200-36027400	Weak transcription	Fetal Muscle Leg	muscle
44	chr6:36022200-36027400	Weak transcription	Lung	lung
45	chr6:36022400-36027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:36022400-36029400	Weak transcription	HUVEC	blood vessel
47	chr6:36022600-36027200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:36022600-36027200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:36022600-36027800	Weak transcription	Stomach Mucosa	stomach
50	chr6:36022800-36027600	Weak transcription	NH-A	brain

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