Variant report

Variant	rs2034622
Chromosome Location	chr11:86142522-86142523
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr11:86142480-86142680	K562	blood:	n/a	n/a
2	POLR2A	chr11:86142302-86142640	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:86142300-86142614	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:86142277-86142538	MCF-7	breast:	n/a	n/a
5	MYC	chr11:86142421-86142542	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86142478-86142528	BE2_C	brain:	n/a
2	chr11:86142478-86142528	Caco-2	colon:	n/a
3	chr11:86142478-86142528	SKMC	muscle:	n/a
4	chr11:86142478-86142528	MCF-7	breast:	n/a
5	chr11:86142478-86142528	HL-60	blood:	n/a
6	chr11:86142478-86142528	HAEpiC	amniotic membrane:	n/a
7	chr11:86142478-86142528	AG04449	skin:	fetal
8	chr11:86142478-86142528	HIPEpiC	eye:	n/a
9	chr11:86142478-86142528	PFSK-1	brain:	n/a
10	chr11:86142478-86142528	PANC-1	pancreas:	n/a
11	chr11:86142478-86142528	GM12878	blood:	n/a
12	chr11:86142478-86142528	HCM	heart:	n/a
13	chr11:86142478-86142528	ovcar-3	ovarian:	n/a
14	chr11:86142478-86142528	PrEC	prostate:	n/a
15	chr11:86142478-86142528	LNCaP	prostate:	n/a
16	chr11:86142478-86142528	Hela-S3	cervix:	n/a
17	chr11:86142478-86142528	AG09309	skin:	n/a
18	chr11:86142478-86142528	AG09319	gingival:	n/a
19	chr11:86142478-86142528	SK-N-MC	brain:	n/a
20	chr11:86142478-86142528	HUVEC	blood vessel:	n/a
21	chr11:86142478-86142528	H1-hESC	embryonic stem cell:	embryo
22	chr11:86142478-86142528	HCPEpiC	choroid plexus:	n/a
23	chr11:86142478-86142528	HCF	heart:	n/a
24	chr11:86142478-86142528	SK-N-SH_RA	brain:	n/a
25	chr11:86142478-86142528	HRPEpiC	eye:	n/a
26	chr11:86142478-86142528	HEK293	kidney:	embryo
27	chr11:86142478-86142528	T-47D	breast:	n/a
28	chr11:86142478-86142528	AoSMC	blood vessel:	n/a
29	chr11:86142478-86142528	NHDF-neo	bronchial:	n/a
30	chr11:86142478-86142528	GM12891	blood:	n/a
31	chr11:86142478-86142528	ECC-1	luminal epithelium:	n/a
32	chr11:86142478-86142528	U87	brain:	n/a
33	chr11:86142478-86142528	HEEpiC	esophagus:	n/a
34	chr11:86142478-86142528	HRE	kidney:	n/a
35	chr11:86142478-86142528	NH-A	brain:	n/a
36	chr11:86142478-86142528	ProgFib	skin:	n/a
37	chr11:86142478-86142528	HMEC	breast:	n/a
38	chr11:86142478-86142528	IMR90	lung:	fetal
39	chr11:86142478-86142528	HRCEpiC	kidney:	n/a
40	chr11:86142478-86142528	GM06990	blood:	n/a
41	chr11:86142478-86142528	SAEC	small airway:	n/a
42	chr11:86142478-86142528	RPTEC	kidney:	n/a
43	chr11:86142478-86142528	AG04450	lung:	fetal
44	chr11:86142478-86142528	NT2-D1	testis:	n/a
45	chr11:86142478-86142528	AG10803	skin:	n/a
46	chr11:86142478-86142528	HCT-116	colon:	n/a
47	chr11:86142478-86142528	GM19239	blood:	n/a
48	chr11:86142478-86142528	BJ	skin:	n/a
49	chr11:86142478-86142528	HNPCEpiC	eye:	n/a
50	chr11:86142478-86142528	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
PTP4A1P6	TF binding region
ENSG00000254733	TF binding region
PTP4A1P6	CpG island
ENSG00000254733	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1042780	0.93[ASN][1000 genomes]
rs10501617	0.93[ASN][1000 genomes]
rs10501618	0.93[ASN][1000 genomes]
rs11234640	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11234642	0.93[ASN][1000 genomes]
rs11234649	0.94[ASN][1000 genomes]
rs11234656	0.94[ASN][1000 genomes]
rs11607319	0.94[ASN][1000 genomes]
rs12271571	0.93[ASN][1000 genomes]
rs12272337	0.94[ASN][1000 genomes]
rs12272824	0.94[ASN][1000 genomes]
rs12274297	0.94[ASN][1000 genomes]
rs12289721	0.94[ASN][1000 genomes]
rs1452133	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452135	0.94[ASN][1000 genomes]
rs1452138	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1597792	0.94[ASN][1000 genomes]
rs1839940	0.94[ASN][1000 genomes]
rs28436284	0.93[ASN][1000 genomes]
rs3741006	0.94[ASN][1000 genomes]
rs3741007	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3819227	0.92[ASN][1000 genomes]
rs3824954	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586193	0.94[ASN][1000 genomes]
rs4943940	0.93[ASN][1000 genomes]
rs4944572	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4944573	0.94[ASN][1000 genomes]
rs4944574	0.94[ASN][1000 genomes]
rs4944578	0.92[ASN][1000 genomes]
rs59419027	0.94[ASN][1000 genomes]
rs6592293	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7120275	0.92[ASN][1000 genomes]
rs7926796	0.94[ASN][1000 genomes]
rs7930223	0.94[ASN][1000 genomes]
rs7932498	0.93[ASN][1000 genomes]
rs7932514	0.91[ASN][1000 genomes]
rs7937668	0.93[ASN][1000 genomes]
rs7947323	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947537	0.94[ASN][1000 genomes]
rs7949910	0.94[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86118200-86151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:86118400-86142800	Weak transcription	Left Ventricle	heart
3	chr11:86136200-86143600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:86136200-86145000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:86136800-86170200	Weak transcription	Fetal Heart	heart
6	chr11:86138600-86167400	Weak transcription	Fetal Lung	lung
7	chr11:86140800-86153400	Weak transcription	Right Ventricle	heart
8	chr11:86140800-86155800	Weak transcription	Psoas Muscle	Psoas
9	chr11:86141000-86153400	Weak transcription	Brain Anterior Caudate	brain
10	chr11:86141200-86149800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:86141400-86149600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr11:86142000-86142600	Active TSS	Placenta	Placenta
13	chr11:86142000-86143600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr11:86142000-86144200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:86142000-86151400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:86142000-86153600	Weak transcription	Brain Angular Gyrus	brain
17	chr11:86142000-86167400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:86142200-86142600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:86142200-86142600	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr11:86142200-86142600	ZNF genes & repeats	Fetal Stomach	stomach
21	chr11:86142200-86142600	ZNF genes & repeats	Spleen	Spleen
22	chr11:86142200-86142800	ZNF genes & repeats	Aorta	Aorta
23	chr11:86142200-86142800	ZNF genes & repeats	Gastric	stomach
24	chr11:86142200-86142800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr11:86142200-86143000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:86142200-86143000	Active TSS	Thymus	Thymus
27	chr11:86142200-86143600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:86142400-86142600	ZNF genes & repeats	Ovary	ovary
29	chr11:86142400-86142800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:86142400-86144000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:86142400-86144400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:86142400-86151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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