Variant report

Variant	rs579082
Chromosome Location	chr3:111676660-111676661
allele	C/T
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	POLR2A	chr3:111676078-111677754	HUVEC	blood vessel:	n/a	n/a
2	JUN	chr3:111676167-111676670	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr3:111675232-111676786	Hela-S3	cervix:	n/a	n/a
4	NANOG	chr3:111676258-111676669	H1-hESC	embryonic stem cell:	n/a	chr3:111676315-111676329
5	CHD2	chr3:111676208-111676671	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:111676660-111676710	HRCEpiC	kidney:	n/a
2	chr3:111676660-111676710	ovcar-3	ovarian:	n/a
3	chr3:111676660-111676710	NHDF-neo	bronchial:	n/a
4	chr3:111676660-111676710	PrEC	prostate:	n/a
5	chr3:111676660-111676710	HRPEpiC	eye:	n/a
6	chr3:111676660-111676710	NB4	blood:	n/a
7	chr3:111676660-111676710	GM19239	blood:	n/a
8	chr3:111676660-111676710	K562	blood:	n/a
9	chr3:111676660-111676710	Hela-S3	cervix:	n/a
10	chr3:111676660-111676710	RPTEC	kidney:	n/a
11	chr3:111676660-111676710	BE2_C	brain:	n/a
12	chr3:111676660-111676710	PFSK-1	brain:	n/a
13	chr3:111676660-111676710	HNPCEpiC	eye:	n/a
14	chr3:111676660-111676710	LNCaP	prostate:	n/a
15	chr3:111676660-111676710	HCT-116	colon:	n/a
16	chr3:111676660-111676710	U87	brain:	n/a
17	chr3:111676660-111676710	PANC-1	pancreas:	n/a
18	chr3:111676660-111676710	AoSMC	blood vessel:	n/a
19	chr3:111676660-111676710	GM12878	blood:	n/a
20	chr3:111676660-111676710	SKMC	muscle:	n/a
21	chr3:111676660-111676710	HUVEC	blood vessel:	n/a
22	chr3:111676660-111676710	ECC-1	luminal epithelium:	n/a
23	chr3:111676660-111676710	AG04449	skin:	fetal
24	chr3:111676660-111676710	NH-A	brain:	n/a
25	chr3:111676660-111676710	AG10803	skin:	n/a
26	chr3:111676660-111676710	AG04450	lung:	fetal
27	chr3:111676660-111676710	HCF	heart:	n/a
28	chr3:111676660-111676710	HMEC	breast:	n/a
29	chr3:111676660-111676710	HAEpiC	amniotic membrane:	n/a
30	chr3:111676660-111676710	IMR90	lung:	fetal
31	chr3:111676660-111676710	HCM	heart:	n/a
32	chr3:111676660-111676710	SK-N-SH_RA	brain:	n/a
33	chr3:111676660-111676710	HIPEpiC	eye:	n/a
34	chr3:111676660-111676710	SK-N-SH	brain:	n/a
35	chr3:111676660-111676710	NT2-D1	testis:	n/a
36	chr3:111676660-111676710	CMK	blood:	n/a
37	chr3:111676660-111676710	HEEpiC	esophagus:	n/a
38	chr3:111676660-111676710	GM06990	blood:	n/a
39	chr3:111676660-111676710	AG09319	gingival:	n/a
40	chr3:111676660-111676710	HL-60	blood:	n/a
41	chr3:111676660-111676710	HepG2	liver:	n/a
42	chr3:111676660-111676710	AG09309	skin:	n/a
43	chr3:111676660-111676710	HRE	kidney:	n/a
44	chr3:111676660-111676710	NHBE	bronchial:	n/a
45	chr3:111676660-111676710	A549	lung:	n/a
46	chr3:111676660-111676710	HPAEpiC	pulmonary alveolar:	n/a
47	chr3:111676660-111676710	SAEC	small airway:	n/a
48	chr3:111676660-111676710	Jurkat	blood:	n/a
49	chr3:111676660-111676710	GM12892	blood:	n/a
50	chr3:111676660-111676710	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
PHLDB2	TF binding region
PHLDB2	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11713044	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1282939	0.89[EUR][1000 genomes]
rs1282945	0.96[EUR][1000 genomes]
rs13061421	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16858936	0.89[ASN][1000 genomes]
rs4682066	0.87[ASN][1000 genomes]
rs493456	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438024	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6796683	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6804475	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712514	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs712518	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712519	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs766745	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs774744	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9816238	0.87[ASN][1000 genomes]
rs9834695	0.80[ASN][1000 genomes]
rs9839401	0.80[ASN][1000 genomes]

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111637200-111690600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:111642200-111690400	Weak transcription	Spleen	Spleen
3	chr3:111645400-111689600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:111652400-111685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:111653000-111686200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:111654400-111695000	Strong transcription	Placenta	Placenta
7	chr3:111656600-111679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:111657200-111682000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:111658600-111697400	Weak transcription	Gastric	stomach
10	chr3:111658800-111685800	Weak transcription	HepG2	liver
11	chr3:111661600-111689800	Weak transcription	Ovary	ovary
12	chr3:111663000-111681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:111663800-111681200	Strong transcription	NHEK	skin
14	chr3:111666600-111697400	Weak transcription	Esophagus	oesophagus
15	chr3:111670800-111685000	Strong transcription	Liver	Liver
16	chr3:111671000-111681800	Strong transcription	NH-A	brain
17	chr3:111671200-111680800	Weak transcription	A549	lung
18	chr3:111672800-111677800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:111672800-111677800	Strong transcription	Left Ventricle	heart
20	chr3:111672800-111677800	Weak transcription	Right Ventricle	heart
21	chr3:111672800-111686000	Weak transcription	Fetal Intestine Small	intestine
22	chr3:111673000-111677800	Weak transcription	Aorta	Aorta
23	chr3:111673000-111677800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:111673000-111680000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:111673000-111680600	Weak transcription	Fetal Intestine Large	intestine
26	chr3:111673000-111681800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:111673000-111682000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:111673000-111688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:111673000-111688400	Weak transcription	Fetal Stomach	stomach
30	chr3:111673000-111697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:111673000-111697400	Weak transcription	Pancreas	Pancrea
32	chr3:111673400-111677200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:111673400-111677800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:111673400-111679400	Weak transcription	Fetal Heart	heart
35	chr3:111673400-111681200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:111673400-111681800	Strong transcription	Osteobl	bone
37	chr3:111673600-111686000	Weak transcription	Fetal Kidney	kidney
38	chr3:111673800-111680400	Weak transcription	Hela-S3	cervix
39	chr3:111673800-111680800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:111673800-111682000	Weak transcription	NHLF	lung
41	chr3:111675000-111677800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:111675000-111677800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:111675000-111680600	Weak transcription	Fetal Muscle Leg	muscle
44	chr3:111675000-111682600	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:111675000-111697400	Weak transcription	Lung	lung
46	chr3:111675200-111677000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr3:111675200-111677000	Enhancers	Brain Substantia Nigra	brain
48	chr3:111675200-111677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:111675200-111677600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:111675200-111678000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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