Variant report

Variant	rs13076111
Chromosome Location	chr3:141593466-141593467
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:141593397-141593608	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr3:141593430-141593612	GM12878	blood:	n/a	n/a
3	BRCA1	chr3:141593461-141593526	Hela-S3	cervix:	n/a	n/a
4	MYC	chr3:141593314-141593498	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141455674..141460093-chr3:141592801..141597430,19	MCF-7	breast:
2	chr3:141577279..141579253-chr3:141592734..141594463,2	K562	blood:
3	chr3:141455466..141460652-chr3:141593125..141598625,15	K562	blood:
4	chr3:141581516..141585437-chr3:141593335..141595315,3	K562	blood:
5	chr3:141592835..141597303-chr3:141629979..141635181,8	MCF-7	breast:
6	chr3:141582963..141586740-chr3:141593075..141596909,5	MCF-7	breast:
7	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:

No data

Variant related genes	Relation type
ATP1B3	TF binding region
ENSG00000069849	Chromatin interaction
ENSG00000114125	Chromatin interaction
ENSG00000228398	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1072982	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560412	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560413	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2068230	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2115937	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441632	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683645	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440043	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440044	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6440047	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440049	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6440050	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6767095	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6767302	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6773700	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790923	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7613107	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7622417	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7639052	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829502	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9859932	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3333253	chr3:141585303-141602936	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13076111	ATP1B3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141588600-141593800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:141589600-141593800	Weak transcription	HSMMtube	muscle
3	chr3:141593400-141593600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr3:141593400-141593800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:141593400-141593800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:141593400-141593800	Enhancers	Fetal Brain Male	brain
7	chr3:141593400-141593800	Enhancers	Dnd41	blood
8	chr3:141593400-141594000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:141593400-141594000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr3:141593400-141594000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:141593400-141594000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr3:141593400-141594000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:141593400-141594000	Active TSS	Duodenum Mucosa	Duodenum
14	chr3:141593400-141594000	Active TSS	A549	lung
15	chr3:141593400-141594000	Active TSS	NHEK	skin
16	chr3:141593400-141594200	Enhancers	HUVEC	blood vessel
17	chr3:141593400-141594400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:141593400-141594400	Enhancers	Fetal Intestine Small	intestine
19	chr3:141593400-141594800	Active TSS	HepG2	liver
20	chr3:141593400-141595000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:141593400-141596600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:141593400-141597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:141593400-141597600	Active TSS	Fetal Kidney	kidney
24	chr3:141593400-141597600	Active TSS	HMEC	breast
25	chr3:141593400-141597600	Active TSS	NHLF	lung
26	chr3:141593400-141598000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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