Variant report

Variant	rs7807738
Chromosome Location	chr7:27807450-27807451
allele	C/G
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	chr7:27806788-27807650	A549	lung:	n/a	chr7:27807120-27807127 chr7:27807120-27807127 chr7:27807120-27807127 chr7:27807113-27807134
2	EP300	chr7:27806776-27807565	A549	lung:	n/a	n/a
3	EP300	chr7:27806817-27807463	A549	lung:	n/a	n/a
4	TCF12	chr7:27806925-27807469	A549	lung:	n/a	n/a
5	BCL3	chr7:27806907-27807451	A549	lung:	n/a	n/a
6	SP1	chr7:27806826-27807469	A549	lung:	n/a	n/a
7	CEBPB	chr7:27806919-27807479	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27778512..27782149-chr7:27804180..27808104,3	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10214930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10230973	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10241783	0.93[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10250333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10268051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17155876	0.97[ASN][1000 genomes]
rs2057998	0.96[ASN][1000 genomes]
rs2074580	0.97[ASN][1000 genomes]
rs2237338	0.89[JPT][hapmap]
rs2391485	0.96[ASN][1000 genomes]
rs28521509	0.96[ASN][1000 genomes]
rs4481475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4719906	0.96[ASN][1000 genomes]
rs4722740	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs55837822	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6462050	0.98[ASN][1000 genomes]
rs6462051	0.98[ASN][1000 genomes]
rs6948467	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970578	0.98[ASN][1000 genomes]
rs7800116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7807738	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:27780800-27815200	Weak transcription	Gastric	stomach
3	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
4	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
11	chr7:27789600-27811000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:27790200-27815200	Weak transcription	Psoas Muscle	Psoas
13	chr7:27790600-27825000	Weak transcription	NHLF	lung
14	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
16	chr7:27791600-27810000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:27792200-27810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:27792200-27810200	Weak transcription	HMEC	breast
19	chr7:27792200-27825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:27792200-27825000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:27792400-27810200	Weak transcription	Hela-S3	cervix
22	chr7:27792400-27822600	Weak transcription	HSMMtube	muscle
23	chr7:27792800-27825200	Weak transcription	Lung	lung
24	chr7:27796600-27819400	Weak transcription	Fetal Heart	heart
25	chr7:27798400-27809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:27798400-27810000	Weak transcription	NHEK	skin
27	chr7:27798400-27817000	Weak transcription	Brain Anterior Caudate	brain
28	chr7:27798400-27817000	Weak transcription	Brain Substantia Nigra	brain
29	chr7:27798600-27809400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:27798600-27809400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:27798600-27810800	Weak transcription	HUVEC	blood vessel
32	chr7:27798600-27822200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
35	chr7:27799600-27809400	Weak transcription	NHDF-Ad	bronchial
36	chr7:27799600-27809800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:27801200-27809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:27801200-27825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
40	chr7:27801400-27831400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
42	chr7:27801600-27809400	Weak transcription	Liver	Liver
43	chr7:27801600-27810400	Weak transcription	Fetal Lung	lung
44	chr7:27801600-27815200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:27801800-27809200	Weak transcription	GM12878-XiMat	blood
47	chr7:27801800-27809400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr7:27801800-27825200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:27802200-27807600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:27802200-27810000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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