Variant report

Variant	rs12697702
Chromosome Location	chr5:80690213-80690214
allele	A/C
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	CHD2	chr5:80690054-80690411	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:80689462-80690514	H1-neurons	neurons:	n/a	n/a
3	SIN3AK20	chr5:80689981-80690222	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:80689215-80690523	H1-neurons	neurons:	n/a	n/a
5	BACH1	chr5:80690036-80690220	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr5:80689989-80690433	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr5:80690051-80690238	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr5:80689945-80690413	H1-hESC	embryonic stem cell:	n/a	chr5:80690015-80690025 chr5:80690058-80690072 chr5:80690056-80690075
9	SP1	chr5:80690195-80690591	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:80690114-80690521	GM12878	blood:	n/a	n/a
11	SIN3A	chr5:80689946-80690563	H1-hESC	embryonic stem cell:	n/a	chr5:80690003-80690016 chr5:80690005-80690016
12	CHD1	chr5:80690192-80690603	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	chr5:80690205-80690255	IMR90	lung:	fetal
2	chr5:80690205-80690255	HL-60	blood:	n/a
3	chr5:80690205-80690255	Caco-2	colon:	n/a
4	chr5:80690205-80690255	ProgFib	skin:	n/a
5	chr5:80690205-80690255	Hela-S3	cervix:	n/a
6	chr5:80690205-80690255	AG10803	skin:	n/a
7	chr5:80690205-80690255	BE2_C	brain:	n/a
8	chr5:80690205-80690255	HNPCEpiC	eye:	n/a
9	chr5:80690205-80690255	HMEC	breast:	n/a
10	chr5:80690205-80690255	HEK293	kidney:	embryo
11	chr5:80690205-80690255	MCF10A-Er-Src	breast:	n/a
12	chr5:80690205-80690255	AG09319	gingival:	n/a
13	chr5:80690205-80690255	PFSK-1	brain:	n/a
14	chr5:80690205-80690255	HPAEpiC	pulmonary alveolar:	n/a
15	chr5:80690205-80690255	GM06990	blood:	n/a
16	chr5:80690205-80690255	A549	lung:	n/a
17	chr5:80690205-80690255	HRE	kidney:	n/a
18	chr5:80690205-80690255	NHDF-neo	bronchial:	n/a
19	chr5:80690205-80690255	ECC-1	luminal epithelium:	n/a
20	chr5:80690205-80690255	AG04450	lung:	fetal
21	chr5:80690205-80690255	GM12892	blood:	n/a
22	chr5:80690205-80690255	SKMC	muscle:	n/a
23	chr5:80690205-80690255	RPTEC	kidney:	n/a
24	chr5:80690205-80690255	BJ	skin:	n/a
25	chr5:80690205-80690255	HRPEpiC	eye:	n/a
26	chr5:80690205-80690255	HCM	heart:	n/a
27	chr5:80690205-80690255	GM12878	blood:	n/a
28	chr5:80690205-80690255	SK-N-SH_RA	brain:	n/a
29	chr5:80690205-80690255	HCF	heart:	n/a
30	chr5:80690205-80690255	HCPEpiC	choroid plexus:	n/a
31	chr5:80690205-80690255	HEEpiC	esophagus:	n/a
32	chr5:80690205-80690255	LNCaP	prostate:	n/a
33	chr5:80690205-80690255	AG04449	skin:	fetal
34	chr5:80690205-80690255	NT2-D1	testis:	n/a
35	chr5:80690205-80690255	K562	blood:	n/a
36	chr5:80690205-80690255	SK-N-SH	brain:	n/a
37	chr5:80690205-80690255	H1-hESC	embryonic stem cell:	embryo
38	chr5:80690205-80690255	CMK	blood:	n/a
39	chr5:80690205-80690255	T-47D	breast:	n/a
40	chr5:80690205-80690255	PANC-1	pancreas:	n/a
41	chr5:80690205-80690255	AoSMC	blood vessel:	n/a
42	chr5:80690205-80690255	SK-N-MC	brain:	n/a
43	chr5:80690205-80690255	HIPEpiC	eye:	n/a
44	chr5:80690205-80690255	NHBE	bronchial:	n/a
45	chr5:80690205-80690255	HUVEC	blood vessel:	n/a
46	chr5:80690205-80690255	HRCEpiC	kidney:	n/a
47	chr5:80690205-80690255	NB4	blood:	n/a
48	chr5:80690205-80690255	HCT-116	colon:	n/a
49	chr5:80690205-80690255	HepG2	liver:	n/a
50	chr5:80690205-80690255	GM19239	blood:	n/a

No data

Variant related genes	Relation type
ACOT12	TF binding region
ACOT12	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10044997	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1013008	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1013009	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11954685	0.92[EUR][1000 genomes]
rs12519060	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13154060	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2042980	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35627535	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35856763	0.85[EUR][1000 genomes]
rs60995704	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366200	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62366205	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366206	0.84[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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80689200-80690400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:80689200-80690400	Bivalent Enhancer	Fetal Thymus	thymus
3	chr5:80689200-80690400	Enhancers	Spleen	Spleen
4	chr5:80689200-80690400	Active TSS	A549	lung
5	chr5:80689200-80690400	Active TSS	NHLF	lung
6	chr5:80689200-80690600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:80689200-80690600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr5:80689200-80690600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:80689200-80690600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:80689200-80690600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:80689200-80690600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:80689200-80690600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:80689200-80690600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:80689200-80690600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:80689200-80690600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:80689200-80690600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr5:80689200-80690600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr5:80689200-80690600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:80689200-80690600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:80689200-80690600	Active TSS	Osteobl	bone
23	chr5:80689400-80690400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr5:80689400-80690400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:80689400-80690400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
26	chr5:80689400-80690400	Enhancers	Gastric	stomach
27	chr5:80689400-80690600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:80689400-80690600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:80689400-80690600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr5:80689400-80690600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr5:80689400-80690600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr5:80689400-80690600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:80689400-80690600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:80689400-80690600	Active TSS	Aorta	Aorta
35	chr5:80689400-80690600	Active TSS	Brain Angular Gyrus	brain
36	chr5:80689400-80690600	Active TSS	Brain Anterior Caudate	brain
37	chr5:80689400-80690600	Bivalent/Poised TSS	Colonic Mucosa	Colon
38	chr5:80689400-80690600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
39	chr5:80689400-80690600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr5:80689400-80690600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr5:80689400-80690600	Active TSS	Right Atrium	heart
42	chr5:80689400-80690600	Active TSS	HSMM	muscle
43	chr5:80689400-80690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:80689600-80690400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:80689600-80690400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
46	chr5:80689600-80690400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:80689600-80690400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr5:80689600-80690400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr5:80689600-80690400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
50	chr5:80689600-80690400	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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