Variant report

Variant	rs7764494
Chromosome Location	chr6:36081340-36081341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36074612..36076975-chr6:36081274..36085326,4	K562	blood:
2	chr6:36075459..36077532-chr6:36079857..36081490,2	K562	blood:
3	chr6:36072201..36074873-chr6:36079773..36082380,2	MCF-7	breast:
4	chr6:36078169..36081886-chr6:36162139..36167468,6	K562	blood:
5	chr6:35994681..35997469-chr6:36079865..36081711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10456082	0.86[CHB][hapmap]
rs16883819	0.91[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs16883860	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs16883989	0.92[EUR][1000 genomes]
rs16884628	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884660	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884857	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884906	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16884919	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes]
rs1967966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237094	0.88[CEU][hapmap];0.86[CHB][hapmap]
rs2237096	0.92[EUR][1000 genomes]
rs3730327	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs3730366	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs3761980	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[EUR][1000 genomes]
rs3804451	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41271263	0.92[EUR][1000 genomes]
rs56044978	1.00[EUR][1000 genomes]
rs56059109	0.92[EUR][1000 genomes]
rs56133220	0.92[EUR][1000 genomes]
rs56156688	0.92[EUR][1000 genomes]
rs56327416	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56362075	0.92[EUR][1000 genomes]
rs56413204	0.92[EUR][1000 genomes]
rs56715462	0.92[EUR][1000 genomes]
rs58390233	0.92[EUR][1000 genomes]
rs58583792	0.92[EUR][1000 genomes]
rs58690654	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60100837	0.92[EUR][1000 genomes]
rs60342497	0.89[EUR][1000 genomes]
rs60481532	0.92[EUR][1000 genomes]
rs60909394	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61195139	0.92[EUR][1000 genomes]
rs61212706	0.92[EUR][1000 genomes]
rs61364424	0.92[EUR][1000 genomes]
rs61763101	0.92[EUR][1000 genomes]
rs6457878	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6908622	0.92[EUR][1000 genomes]
rs6910685	0.92[EUR][1000 genomes]
rs6914570	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6921999	0.92[EUR][1000 genomes]
rs6930333	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[EUR][1000 genomes]
rs6932598	0.92[EUR][1000 genomes]
rs6934216	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[EUR][1000 genomes]
rs6936327	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407868	0.90[EUR][1000 genomes]
rs73407870	0.92[EUR][1000 genomes]
rs73407871	0.92[EUR][1000 genomes]
rs73407876	0.92[EUR][1000 genomes]
rs73409842	0.92[EUR][1000 genomes]
rs73729685	0.92[EUR][1000 genomes]
rs73729698	0.92[EUR][1000 genomes]
rs73730437	0.92[EUR][1000 genomes]
rs73730440	0.92[EUR][1000 genomes]
rs73730459	1.00[EUR][1000 genomes]
rs7745082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7745536	0.91[CEU][hapmap];0.93[CHB][hapmap];0.92[EUR][1000 genomes]
rs7745927	0.92[EUR][1000 genomes]
rs7747846	0.92[EUR][1000 genomes]
rs7748078	0.92[EUR][1000 genomes]
rs7752459	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7759175	0.92[EUR][1000 genomes]
rs7760405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7760578	0.92[EUR][1000 genomes]
rs7761118	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7762483	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7766032	0.97[EUR][1000 genomes]
rs7769981	1.00[EUR][1000 genomes]
rs7770183	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs7771484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7772088	0.92[EUR][1000 genomes]
rs7775290	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7764494	SLC26A8	cis	Thyroid	GTEx
rs7764494	SLC26A8	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36065400-36082600	Weak transcription	Stomach Mucosa	stomach
4	chr6:36067000-36082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:36068000-36091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:36069000-36081400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:36069200-36081800	Strong transcription	Fetal Intestine Large	intestine
8	chr6:36069400-36083000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:36070000-36082000	Strong transcription	Liver	Liver
10	chr6:36072200-36082800	Weak transcription	Colonic Mucosa	Colon
11	chr6:36073200-36082600	Weak transcription	Fetal Heart	heart
12	chr6:36074800-36085400	Strong transcription	Fetal Stomach	stomach
13	chr6:36074800-36085600	Strong transcription	Fetal Intestine Small	intestine
14	chr6:36075400-36082000	Strong transcription	Fetal Lung	lung
15	chr6:36076600-36082600	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:36076600-36088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:36076600-36088600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:36077000-36086200	Weak transcription	Esophagus	oesophagus
19	chr6:36077200-36082600	Weak transcription	Pancreas	Pancrea
20	chr6:36077200-36085800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:36077200-36086000	Weak transcription	Small Intestine	intestine
22	chr6:36077200-36088400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:36077200-36088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:36077200-36088800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:36077200-36088800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:36077200-36088800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:36077200-36094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:36077200-36096600	Weak transcription	Fetal Brain Female	brain
29	chr6:36077400-36094800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:36077400-36096400	Weak transcription	Fetal Brain Male	brain
31	chr6:36077600-36089000	Weak transcription	A549	lung
32	chr6:36078000-36088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:36078400-36081600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:36078400-36088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:36078400-36088400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:36078400-36088400	Weak transcription	NHLF	lung
37	chr6:36078400-36092000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:36078600-36081600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:36078600-36088800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:36078600-36091400	Weak transcription	Brain Anterior Caudate	brain
41	chr6:36078800-36081600	Weak transcription	K562	blood
42	chr6:36078800-36087800	Weak transcription	HUVEC	blood vessel
43	chr6:36079000-36081600	Weak transcription	Psoas Muscle	Psoas
44	chr6:36079000-36084000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:36079000-36084200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:36079000-36088600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr6:36079200-36088000	Weak transcription	Fetal Kidney	kidney
48	chr6:36079200-36088800	Weak transcription	NH-A	brain
49	chr6:36079400-36081600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:36079600-36081600	Enhancers	Primary B cells from cord blood	blood

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