Variant report

Variant	rs7785305
Chromosome Location	chr7:27778666-27778667
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	FOXA2	chr7:27778132-27779219	HepG2	liver:	n/a	n/a
2	MYC	chr7:27778646-27780714	K562	blood:	n/a	chr7:27780133-27780142 chr7:27780137-27780144
3	FOXA1	chr7:27778314-27779080	HepG2	liver:	n/a	chr7:27778585-27778600
4	CUX1	chr7:27778548-27781013	K562	blood:	n/a	n/a
5	POLR2A	chr7:27778622-27781031	K562	blood:	n/a	n/a
6	MXI1	chr7:27778634-27780856	IMR90	lung:	n/a	n/a
7	FOXA2	chr7:27778468-27778901	HepG2	liver:	n/a	n/a
8	FOXA1	chr7:27778265-27778983	HepG2	liver:	n/a	chr7:27778585-27778600
9	EP300	chr7:27778460-27779923	K562	blood:	n/a	chr7:27778590-27778600
10	ARID3A	chr7:27778471-27779883	HepG2	liver:	n/a	n/a
11	HCFC1	chr7:27778348-27781120	Hela-S3	cervix:	n/a	n/a
12	ATF1	chr7:27778630-27779960	K562	blood:	n/a	n/a
13	JUND	chr7:27778552-27780847	K562	blood:	n/a	chr7:27778869-27778881 chr7:27779485-27779493
14	IRF1	chr7:27778568-27780945	K562	blood:	n/a	chr7:27780904-27780918 chr7:27780905-27780919 chr7:27779143-27779160 chr7:27780410-27780424 chr7:27780503-27780517 chr7:27780901-27780915

No.	Distal block	Cell Line	Cell type
1	chr7:27778585..27781573-chr7:27808183..27810027,3	MCF-7	breast:
2	chr7:27750530..27752720-chr7:27775976..27778781,2	K562	blood:
3	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
4	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:

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

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11973028	0.85[EUR][1000 genomes]
rs17611937	0.94[ASN][1000 genomes]
rs17685046	0.96[ASN][1000 genomes]
rs2051829	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237337	0.95[ASN][1000 genomes]
rs2391486	0.80[ASN][1000 genomes]
rs34369550	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4722732	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4722733	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722739	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4722742	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55714615	0.95[ASN][1000 genomes]
rs56137979	0.96[ASN][1000 genomes]
rs61538692	0.96[ASN][1000 genomes]
rs62449631	0.96[ASN][1000 genomes]
rs6462056	0.82[EUR][1000 genomes]
rs6974060	0.93[ASN][1000 genomes]
rs6978847	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs757964	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790213	0.81[EUR][1000 genomes]
rs7796790	0.90[ASN][1000 genomes]
rs7804317	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7808062	0.90[ASN][1000 genomes]
rs960293	0.95[ASN][1000 genomes]
rs960294	0.96[ASN][1000 genomes]
rs9638847	0.96[ASN][1000 genomes]
rs9639564	0.96[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
rs7785305	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
3	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
4	chr7:27775800-27778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:27775800-27779200	Weak transcription	Gastric	stomach
6	chr7:27775800-27779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:27777400-27779200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:27777600-27778800	Enhancers	Duodenum Mucosa	Duodenum
9	chr7:27777800-27781200	Active TSS	K562	blood
10	chr7:27778000-27778800	Weak transcription	Stomach Mucosa	stomach
11	chr7:27778000-27779000	Weak transcription	Placenta	Placenta
12	chr7:27778200-27778800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:27778200-27778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27778200-27778800	Enhancers	Colonic Mucosa	Colon
15	chr7:27778200-27778800	Enhancers	Fetal Stomach	stomach
16	chr7:27778200-27779000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:27778200-27779000	Active TSS	HepG2	liver
18	chr7:27778200-27780600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:27778400-27778800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:27778400-27779000	Weak transcription	Ovary	ovary
21	chr7:27778400-27779000	Weak transcription	Pancreas	Pancrea
22	chr7:27778400-27779000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:27778400-27779600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:27778400-27780800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:27778400-27781200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:27778600-27778800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr7:27778600-27778800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:27778600-27778800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:27778600-27778800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:27778600-27778800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
31	chr7:27778600-27778800	Enhancers	Primary T cells from cord blood	blood
32	chr7:27778600-27778800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:27778600-27778800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr7:27778600-27778800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:27778600-27778800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:27778600-27778800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:27778600-27778800	Enhancers	Adipose Nuclei	Adipose
38	chr7:27778600-27778800	Enhancers	Brain Angular Gyrus	brain
39	chr7:27778600-27778800	Active TSS	Brain Anterior Caudate	brain
40	chr7:27778600-27778800	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:27778600-27778800	Enhancers	Brain Hippocampus Middle	brain
42	chr7:27778600-27778800	Enhancers	Brain Substantia Nigra	brain
43	chr7:27778600-27778800	Enhancers	Colon Smooth Muscle	Colon
44	chr7:27778600-27778800	Flanking Active TSS	Fetal Lung	lung
45	chr7:27778600-27778800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr7:27778600-27778800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:27778600-27778800	Enhancers	HSMM	muscle
48	chr7:27778600-27778800	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:27778600-27778800	Enhancers	NH-A	brain
50	chr7:27778600-27779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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