Variant report

Variant	rs6978847
Chromosome Location	chr7:27776465-27776466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:27776362-27776633	SH-SY5Y	brain:	n/a	chr7:27776404-27776425 chr7:27776407-27776423 chr7:27776407-27776423 chr7:27776513-27776523 chr7:27776412-27776429

No.	Distal block	Cell Line	Cell type
1	chr7:27750530..27752720-chr7:27775976..27778781,2	K562	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
3	chr7:27773133..27776591-chr7:27778404..27780614,3	MCF-7	breast:

Variant related genes	Relation type
TAX1BP1	TF binding region
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000229893	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11973028	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs17155928	0.84[CEU][hapmap];0.84[CHB][hapmap]
rs17611937	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17685046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2051829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2285930	0.84[CHB][hapmap]
rs2391486	0.84[ASN][1000 genomes]
rs34369550	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4722732	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722733	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4722739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4722742	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4722744	0.84[CEU][hapmap]
rs55714615	0.98[ASN][1000 genomes]
rs56137979	1.00[ASN][1000 genomes]
rs61538692	1.00[ASN][1000 genomes]
rs62449631	1.00[ASN][1000 genomes]
rs6462056	0.81[EUR][1000 genomes]
rs6974060	0.97[ASN][1000 genomes]
rs757964	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785305	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7790213	0.87[CEU][hapmap]
rs7796790	0.94[ASN][1000 genomes]
rs7804317	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808062	0.94[ASN][1000 genomes]
rs960293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs960294	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9638847	1.00[ASN][1000 genomes]
rs9639564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];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	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
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6978847	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27770000-27778600	Weak transcription	Right Atrium	heart
3	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
4	chr7:27773600-27778600	Enhancers	Fetal Intestine Large	intestine
5	chr7:27774600-27776600	Weak transcription	K562	blood
6	chr7:27774600-27776800	Weak transcription	Stomach Mucosa	stomach
7	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
8	chr7:27774800-27778400	Weak transcription	HUVEC	blood vessel
9	chr7:27775200-27778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:27775200-27778400	Weak transcription	Hela-S3	cervix
11	chr7:27775600-27778600	Weak transcription	A549	lung
12	chr7:27775800-27776800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr7:27775800-27777000	Weak transcription	Pancreas	Pancrea
14	chr7:27775800-27777600	Weak transcription	Liver	Liver
15	chr7:27775800-27777600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:27775800-27778000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:27775800-27778200	Weak transcription	Fetal Lung	lung
18	chr7:27775800-27778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:27775800-27779200	Weak transcription	Gastric	stomach
20	chr7:27775800-27779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:27776400-27778200	Enhancers	HepG2	liver

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