Variant report

Variant	rs67219312
Chromosome Location	chr3:179755324-179755325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr3:179754069-179755404	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:179753319-179755341	H1-neurons	neurons:	n/a	n/a
3	REST	chr3:179754146-179755517	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr3:179753907-179755353	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr3:179754410-179755328	H1-hESC	embryonic stem cell:	n/a	chr3:179754861-179754871
6	SIN3A	chr3:179753777-179755452	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr3:179753756-179755754	HL-60	blood:	n/a	n/a
8	MAX	chr3:179754038-179755559	H1-hESC	embryonic stem cell:	n/a	chr3:179754861-179754871
9	ZNF143	chr3:179754166-179755394	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr3:179754413-179755367	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr3:179754358-179755419	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr3:179754404-179755340	H1-hESC	embryonic stem cell:	n/a	chr3:179754861-179754871

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:179755285-179755335	SKMC	muscle:	n/a
2	chr3:179755285-179755335	MCF10A-Er-Src	breast:	n/a
3	chr3:179755285-179755335	AG04450	lung:	fetal
4	chr3:179755285-179755335	HIPEpiC	eye:	n/a
5	chr3:179755285-179755335	HRE	kidney:	n/a
6	chr3:179755285-179755335	Hela-S3	cervix:	n/a
7	chr3:179755285-179755335	SAEC	small airway:	n/a
8	chr3:179755285-179755335	HCF	heart:	n/a
9	chr3:179755285-179755335	HUVEC	blood vessel:	n/a
10	chr3:179755285-179755335	Jurkat	blood:	n/a
11	chr3:179755285-179755335	HNPCEpiC	eye:	n/a
12	chr3:179755285-179755335	NHDF-neo	bronchial:	n/a
13	chr3:179755285-179755335	T-47D	breast:	n/a
14	chr3:179755285-179755335	BJ	skin:	n/a
15	chr3:179755285-179755335	PFSK-1	brain:	n/a
16	chr3:179755285-179755335	HRPEpiC	eye:	n/a
17	chr3:179755285-179755335	HL-60	blood:	n/a
18	chr3:179755285-179755335	HEK293	kidney:	embryo
19	chr3:179755285-179755335	HCM	heart:	n/a
20	chr3:179755285-179755335	K562	blood:	n/a
21	chr3:179755285-179755335	HCT-116	colon:	n/a
22	chr3:179755285-179755335	GM12891	blood:	n/a
23	chr3:179755285-179755335	AG09309	skin:	n/a
24	chr3:179755285-179755335	CMK	blood:	n/a
25	chr3:179755285-179755335	SK-N-SH	brain:	n/a
26	chr3:179755285-179755335	IMR90	lung:	fetal
27	chr3:179755285-179755335	HEEpiC	esophagus:	n/a
28	chr3:179755285-179755335	GM12878	blood:	n/a
29	chr3:179755285-179755335	HRCEpiC	kidney:	n/a
30	chr3:179755285-179755335	ovcar-3	ovarian:	n/a
31	chr3:179755285-179755335	Hepatocyte	liver:	n/a
32	chr3:179755285-179755335	PrEC	prostate:	n/a
33	chr3:179755285-179755335	HCPEpiC	choroid plexus:	n/a
34	chr3:179755285-179755335	NB4	blood:	n/a
35	chr3:179755285-179755335	AG04449	skin:	fetal
36	chr3:179755285-179755335	Caco-2	colon:	n/a
37	chr3:179755285-179755335	HepG2	liver:	n/a
38	chr3:179755285-179755335	NT2-D1	testis:	n/a
39	chr3:179755285-179755335	RPTEC	kidney:	n/a
40	chr3:179755285-179755335	PANC-1	pancreas:	n/a
41	chr3:179755285-179755335	AoSMC	blood vessel:	n/a
42	chr3:179755285-179755335	ProgFib	skin:	n/a
43	chr3:179755285-179755335	SK-N-SH_RA	brain:	n/a
44	chr3:179755285-179755335	HMEC	breast:	n/a
45	chr3:179755285-179755335	MCF-7	breast:	n/a
46	chr3:179755285-179755335	LNCaP	prostate:	n/a
47	chr3:179755285-179755335	HAEpiC	amniotic membrane:	n/a
48	chr3:179755285-179755335	SK-N-MC	brain:	n/a
49	chr3:179755285-179755335	ECC-1	luminal epithelium:	n/a
50	chr3:179755285-179755335	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
PEX5L	TF binding region
PEX5L	CpG island

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10513766	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054131	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2031045	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41463648	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41513245	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55647727	0.84[ASN][1000 genomes]
rs55829880	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55856121	0.84[ASN][1000 genomes]
rs55895012	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55903935	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55952695	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55996513	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56006824	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56100025	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56116940	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56145741	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56273619	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56335806	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56362569	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56378746	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57313970	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57943546	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6443686	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66486754	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66810269	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66906982	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66924709	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6771088	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67767464	0.90[EUR][1000 genomes]
rs6789142	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68011865	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6804267	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6809015	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68185071	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68188167	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73178101	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180003	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180017	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180024	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180036	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180045	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180054	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73180061	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180077	0.84[ASN][1000 genomes]
rs73180081	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73180087	0.84[ASN][1000 genomes]
rs73180091	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73180095	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7645574	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9290689	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9816489	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9828328	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9844416	0.90[EUR][1000 genomes]
rs9849079	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9855659	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179750600-179755600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:179751400-179755400	Active TSS	Brain Hippocampus Middle	brain
3	chr3:179751400-179755600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:179752200-179755600	Active TSS	Brain Angular Gyrus	brain
5	chr3:179753200-179755800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:179753400-179755400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:179753400-179755400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr3:179753400-179755400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:179753400-179755600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:179753400-179755600	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr3:179753600-179755400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:179753600-179755400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:179753600-179755400	Active TSS	Pancreas	Pancrea
14	chr3:179753600-179755600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:179753600-179755600	Active TSS	Brain Cingulate Gyrus	brain
16	chr3:179754000-179755400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr3:179754000-179755400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:179754000-179755400	Bivalent Enhancer	Liver	Liver
19	chr3:179754000-179755400	Bivalent/Poised TSS	NHDF-Ad	bronchial
20	chr3:179754000-179755400	Bivalent/Poised TSS	NHLF	lung
21	chr3:179754200-179755400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:179754200-179755400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr3:179754200-179755400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:179754200-179755400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr3:179754200-179755400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:179754200-179755400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr3:179754200-179755600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr3:179754400-179755400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:179754400-179755400	Active TSS	Fetal Brain Male	brain
30	chr3:179754400-179755400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr3:179754400-179755400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr3:179754400-179755400	Active TSS	Ovary	ovary
33	chr3:179754400-179755600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr3:179754400-179755600	Active TSS	Brain Substantia Nigra	brain
35	chr3:179754600-179755400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:179754600-179755400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:179754600-179755400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:179754600-179755400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr3:179755000-179755400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:179755000-179755400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr3:179755000-179755400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:179755000-179755400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr3:179755000-179755400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr3:179755000-179755400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr3:179755000-179755400	Flanking Active TSS	HMEC	breast
46	chr3:179755000-179755600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr3:179755000-179755600	Flanking Active TSS	Dnd41	blood
48	chr3:179755200-179755400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:179755200-179755400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:179755200-179755400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain

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