Variant report

Variant	rs6974991
Chromosome Location	chr7:27749574-27749575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27747436..27749954-chr7:27752214..27754351,3	K562	blood:
2	chr7:27748144..27751771-chr7:27755375..27758191,3	K562	blood:
3	chr7:27747506..27749954-chr7:27752851..27754917,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11763499	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766320	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973028	0.82[CHB][hapmap]
rs17155666	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611937	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17685046	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2108309	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs2237337	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2285930	0.84[CEU][hapmap]
rs2391486	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55714615	0.94[EUR][1000 genomes]
rs55738305	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137979	0.93[EUR][1000 genomes]
rs61538692	0.93[EUR][1000 genomes]
rs62449631	0.92[EUR][1000 genomes]
rs62454807	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62454947	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462043	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950949	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957836	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958125	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974060	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7808062	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs960293	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs960294	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9638846	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638847	0.93[EUR][1000 genomes]
rs9639563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639564	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6974991	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27748600-27750000	Enhancers	Hela-S3	cervix
2	chr7:27748600-27750000	Enhancers	Osteobl	bone
3	chr7:27748600-27750200	Enhancers	NHDF-Ad	bronchial
4	chr7:27748800-27749600	Enhancers	HMEC	breast
5	chr7:27748800-27749800	Enhancers	Ovary	ovary
6	chr7:27748800-27749800	Enhancers	NHLF	lung
7	chr7:27748800-27750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:27748800-27750000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:27748800-27750000	Enhancers	Colon Smooth Muscle	Colon
10	chr7:27748800-27750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:27748800-27750000	Enhancers	NH-A	brain
12	chr7:27749000-27749800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:27749000-27749800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:27749000-27749800	Enhancers	Stomach Smooth Muscle	stomach
15	chr7:27749000-27749800	Enhancers	HSMMtube	muscle
16	chr7:27749000-27750000	Enhancers	HSMM	muscle
17	chr7:27749000-27750000	Enhancers	HUVEC	blood vessel
18	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:27749000-27750200	Enhancers	K562	blood
21	chr7:27749400-27749600	Enhancers	HepG2	liver
22	chr7:27749400-27749800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:27749400-27749800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:27749400-27750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:27749400-27750000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr7:27749400-27750200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:27749400-27755000	Weak transcription	Small Intestine	intestine

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