Variant report

Variant	rs17685046
Chromosome Location	chr7:27782891-27782892
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	MAFF	chr7:27782864-27782909	HepG2	liver:	n/a	n/a
2	MAFK	chr7:27782851-27782947	HepG2	liver:	n/a	chr7:27782877-27782892 chr7:27782877-27782888 chr7:27782877-27782893 chr7:27782876-27782890 chr7:27782877-27782888 chr7:27782878-27782889 chr7:27782878-27782889
3	MAFK	chr7:27782829-27782919	HepG2	liver:	n/a	chr7:27782877-27782892 chr7:27782877-27782888 chr7:27782877-27782893 chr7:27782876-27782890 chr7:27782877-27782888 chr7:27782878-27782889 chr7:27782878-27782889
4	EP300	chr7:27782758-27783203	K562	blood:	n/a	chr7:27783099-27783107 chr7:27783189-27783203
5	MYC	chr7:27782774-27783114	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
2	chr7:27777249..27781364-chr7:27781538..27788730,11	MCF-7	breast:
3	chr7:27782398..27784453-chr7:27793755..27796214,2	K562	blood:
4	chr7:27780417..27784283-chr7:27794073..27796581,3	MCF-7	breast:

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

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11763499	0.92[EUR][1000 genomes]
rs11766320	0.93[EUR][1000 genomes]
rs17155666	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17155928	0.85[CHB][hapmap]
rs17611937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2237337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2285930	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs2391486	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34369550	0.97[ASN][1000 genomes]
rs4722732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4722733	0.98[ASN][1000 genomes]
rs4722739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4722742	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs55714615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55738305	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56137979	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61538692	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62449631	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62454807	0.93[EUR][1000 genomes]
rs62454947	0.93[EUR][1000 genomes]
rs6462043	0.93[EUR][1000 genomes]
rs6950949	0.93[EUR][1000 genomes]
rs6957836	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6958125	0.93[EUR][1000 genomes]
rs6974060	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6974991	0.93[EUR][1000 genomes]
rs6978847	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs757964	0.97[ASN][1000 genomes]
rs7785305	0.96[ASN][1000 genomes]
rs7796790	0.94[ASN][1000 genomes]
rs7799957	0.80[CHB][hapmap]
rs7804317	0.96[ASN][1000 genomes]
rs7808062	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs960293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638846	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9638847	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639563	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9639564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3504587	chr7:27782321-27784475	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17685046	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780600-27784600	Weak transcription	Spleen	Spleen
2	chr7:27780800-27784600	Weak transcription	Left Ventricle	heart
3	chr7:27780800-27788800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:27780800-27789400	Weak transcription	Lung	lung
5	chr7:27780800-27796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:27780800-27815200	Weak transcription	Gastric	stomach
9	chr7:27781000-27783200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:27781000-27784000	Weak transcription	HUVEC	blood vessel
11	chr7:27781000-27784200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:27781000-27784200	Weak transcription	NH-A	brain
13	chr7:27781000-27784400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:27781000-27784600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:27781000-27784600	Weak transcription	Brain Substantia Nigra	brain
16	chr7:27781000-27784600	Weak transcription	Colonic Mucosa	Colon
17	chr7:27781000-27784600	Weak transcription	Ovary	ovary
18	chr7:27781000-27789000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:27781000-27800200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
21	chr7:27781200-27783000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr7:27781200-27783000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:27781200-27783200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr7:27781200-27784200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:27781200-27784200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:27781200-27784200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:27781200-27784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:27781200-27784200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:27781200-27784200	Weak transcription	Fetal Intestine Large	intestine
30	chr7:27781200-27784200	Weak transcription	Stomach Mucosa	stomach
31	chr7:27781200-27784200	Weak transcription	Dnd41	blood
32	chr7:27781200-27784200	Weak transcription	GM12878-XiMat	blood
33	chr7:27781200-27784200	Weak transcription	Hela-S3	cervix
34	chr7:27781200-27784200	Weak transcription	Osteobl	bone
35	chr7:27781200-27784400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:27781200-27784400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:27781200-27784400	Weak transcription	Primary T cells from cord blood	blood
38	chr7:27781200-27784400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:27781200-27784400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:27781200-27784400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:27781200-27784400	Weak transcription	HSMMtube	muscle
42	chr7:27781200-27784400	Weak transcription	NHLF	lung
43	chr7:27781200-27784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:27781200-27784600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:27781200-27784600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:27781200-27784600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:27781200-27784600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:27781200-27784600	Weak transcription	Fetal Heart	heart
49	chr7:27781200-27784600	Weak transcription	Fetal Kidney	kidney
50	chr7:27781200-27784600	Weak transcription	Fetal Lung	lung

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