Variant report

Variant	rs6796830
Chromosome Location	chr3:56502113-56502114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56501729-56502877	H1-neurons	neurons:	n/a	n/a
2	CTBP2	chr3:56501443-56502849	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr3:56500966-56502991	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:56501809-56502879	H1-neurons	neurons:	n/a	n/a
5	REST	chr3:56501014-56503103	H1-neurons	neurons:	n/a	chr3:56502285-56502298
6	ZNF263	chr3:56502088-56502586	HEK293-T-REx	kidney:	n/a	chr3:56502398-56502419
7	MAX	chr3:56502097-56502600	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr3:56501945-56502236	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	chr3:56502091-56502141	SKMC	muscle:	n/a
2	chr3:56502091-56502141	K562	blood:	n/a
3	chr3:56502091-56502141	Jurkat	blood:	n/a
4	chr3:56502091-56502141	HRCEpiC	kidney:	n/a
5	chr3:56502091-56502141	SAEC	small airway:	n/a
6	chr3:56502091-56502141	GM19239	blood:	n/a
7	chr3:56502091-56502141	GM06990	blood:	n/a
8	chr3:56502091-56502141	NH-A	brain:	n/a
9	chr3:56502091-56502141	GM12892	blood:	n/a
10	chr3:56502091-56502141	LNCaP	prostate:	n/a
11	chr3:56502091-56502141	CMK	blood:	n/a
12	chr3:56502091-56502141	PrEC	prostate:	n/a
13	chr3:56502091-56502141	MCF10A-Er-Src	breast:	n/a
14	chr3:56502091-56502141	AoSMC	blood vessel:	n/a
15	chr3:56502091-56502141	IMR90	lung:	fetal
16	chr3:56502091-56502141	NHBE	bronchial:	n/a
17	chr3:56502091-56502141	HMEC	breast:	n/a
18	chr3:56502091-56502141	SK-N-MC	brain:	n/a
19	chr3:56502091-56502141	HPAEpiC	pulmonary alveolar:	n/a
20	chr3:56502091-56502141	HAEpiC	amniotic membrane:	n/a
21	chr3:56502091-56502141	MCF-7	breast:	n/a
22	chr3:56502091-56502141	T-47D	breast:	n/a
23	chr3:56502091-56502141	PFSK-1	brain:	n/a
24	chr3:56502091-56502141	Caco-2	colon:	n/a
25	chr3:56502091-56502141	PANC-1	pancreas:	n/a
26	chr3:56502091-56502141	SK-N-SH_RA	brain:	n/a
27	chr3:56502091-56502141	ECC-1	luminal epithelium:	n/a
28	chr3:56502091-56502141	HEK293	kidney:	embryo
29	chr3:56502091-56502141	AG09319	gingival:	n/a
30	chr3:56502091-56502141	HCF	heart:	n/a
31	chr3:56502091-56502141	HepG2	liver:	n/a
32	chr3:56502091-56502141	RPTEC	kidney:	n/a
33	chr3:56502091-56502141	SK-N-SH	brain:	n/a
34	chr3:56502091-56502141	HRE	kidney:	n/a
35	chr3:56502091-56502141	NHDF-neo	bronchial:	n/a
36	chr3:56502091-56502141	HIPEpiC	eye:	n/a
37	chr3:56502091-56502141	ProgFib	skin:	n/a
38	chr3:56502091-56502141	H1-hESC	embryonic stem cell:	embryo
39	chr3:56502091-56502141	A549	lung:	n/a
40	chr3:56502091-56502141	Hela-S3	cervix:	n/a
41	chr3:56502091-56502141	ovcar-3	ovarian:	n/a
42	chr3:56502091-56502141	BE2_C	brain:	n/a
43	chr3:56502091-56502141	Hepatocyte	liver:	n/a
44	chr3:56502091-56502141	HCPEpiC	choroid plexus:	n/a
45	chr3:56502091-56502141	HCT-116	colon:	n/a
46	chr3:56502091-56502141	HEEpiC	esophagus:	n/a
47	chr3:56502091-56502141	HNPCEpiC	eye:	n/a
48	chr3:56502091-56502141	AG09309	skin:	n/a
49	chr3:56502091-56502141	NB4	blood:	n/a
50	chr3:56502091-56502141	HCM	heart:	n/a

No data

Variant related genes	Relation type
ERC2	TF binding region
ERC2	CpG island

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1388255	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1491163	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1552668	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1552669	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1878269	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35139577	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4527348	0.96[EUR][1000 genomes]
rs4974214	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58145335	0.97[EUR][1000 genomes]
rs6445790	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6445792	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6762660	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6783666	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6784781	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6785094	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6807444	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs725089	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628279	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7637479	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7644198	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7646515	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs975582	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9812701	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9829542	0.92[EUR][1000 genomes]
rs9856358	0.92[EUR][1000 genomes]
rs9871408	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56500200-56503000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:56500400-56503000	Active TSS	Right Atrium	heart
3	chr3:56500600-56502800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr3:56500600-56503000	Active TSS	Brain Angular Gyrus	brain
5	chr3:56500600-56503000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:56500600-56503200	Active TSS	Brain Cingulate Gyrus	brain
7	chr3:56500600-56503200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr3:56500600-56503200	Active TSS	Fetal Brain Female	brain
9	chr3:56500800-56502400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr3:56500800-56502600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:56500800-56502800	Active TSS	Pancreas	Pancrea
12	chr3:56500800-56502800	Active TSS	Psoas Muscle	Psoas
13	chr3:56500800-56503000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:56500800-56503000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:56500800-56503000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:56500800-56503200	Active TSS	Brain Anterior Caudate	brain
17	chr3:56501000-56502200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr3:56501000-56502200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr3:56501000-56502200	Bivalent/Poised TSS	Fetal Lung	lung
20	chr3:56501000-56502200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr3:56501000-56502400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:56501000-56502600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:56501000-56502600	Active TSS	Aorta	Aorta
24	chr3:56501000-56502600	Active TSS	Gastric	stomach
25	chr3:56501000-56502800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:56501000-56502800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
27	chr3:56501000-56502800	Active TSS	Ovary	ovary
28	chr3:56501000-56503000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr3:56501000-56503000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:56501000-56503000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:56501000-56503000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr3:56501000-56503000	Active TSS	Brain Hippocampus Middle	brain
33	chr3:56501000-56503000	Active TSS	Right Ventricle	heart
34	chr3:56501000-56503000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr3:56501200-56502200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr3:56501200-56502200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr3:56501200-56502400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:56501200-56502400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:56501200-56502400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr3:56501200-56502600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:56501200-56502600	Bivalent/Poised TSS	HSMMtube	muscle
42	chr3:56501200-56502600	Bivalent/Poised TSS	Osteobl	bone
43	chr3:56501200-56502800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:56501200-56502800	Bivalent/Poised TSS	A549	lung
45	chr3:56501200-56502800	Active TSS	HUVEC	blood vessel
46	chr3:56501200-56503000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr3:56501200-56503000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:56501200-56503000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr3:56501400-56502200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr3:56501400-56502400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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