Variant report

Variant	rs790825
Chromosome Location	chr5:114962333-114962334
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:114961258-114962410	ProgFib	skin:	n/a	n/a
2	POLR2A	chr5:114961387-114962419	U87	brain:	n/a	n/a
3	POLR2A	chr5:114961333-114962455	U87	brain:	n/a	n/a
4	CTCF	chr5:114962220-114962370	HPAF	blood vessel:	n/a	n/a
5	PML	chr5:114961270-114962414	GM12878	blood:	n/a	n/a
6	EGR1	chr5:114961499-114962401	HCT-116	colon:	n/a	chr5:114961887-114961900
7	SIN3AK20	chr5:114961980-114962336	A549	lung:	n/a	n/a
8	TBP	chr5:114961299-114962367	K562	blood:	n/a	n/a
9	IRF1	chr5:114961498-114962432	K562	blood:	n/a	chr5:114961919-114961933 chr5:114961873-114961887 chr5:114961750-114961764
10	POLR2A	chr5:114961415-114962350	PANC-1	pancreas:	n/a	n/a
11	HEY1	chr5:114961382-114962370	HepG2	liver:	n/a	n/a
12	MXI1	chr5:114961589-114962453	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:114961249-114962350	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:114961966-114962334	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:114959884-114962471	GM12891	blood:	n/a	n/a
16	MAFK	chr5:114961187-114962406	Hela-S3	cervix:	n/a	n/a
17	KAP1	chr5:114961552-114962470	U2OS	brain:	n/a	n/a
18	POLR2A	chr5:114961336-114962357	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr5:114960986-114962579	IMR90	lung:	n/a	n/a
20	JUND	chr5:114960968-114962426	K562	blood:	n/a	n/a
21	JUND	chr5:114961595-114962409	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr5:114960892-114962437	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:114961478-114962406	GM12878	blood:	n/a	n/a
24	GATA1	chr5:114961258-114962396	PBDE	blood:	n/a	n/a
25	POLR2A	chr5:114961146-114962379	K562	blood:	n/a	n/a
26	ZKSCAN1	chr5:114961279-114962486	Hela-S3	cervix:	n/a	n/a
27	ZNF384	chr5:114961613-114962437	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:114961161-114962673	HepG2	liver:	n/a	n/a
29	MXI1	chr5:114961127-114962346	GM12878	blood:	n/a	n/a
30	MXI1	chr5:114961672-114962386	K562	blood:	n/a	n/a
31	POLR2A	chr5:114961111-114962413	SK-N-MC	brain:	n/a	n/a
32	POLR2A	chr5:114961185-114962598	Raji	blood:	n/a	n/a
33	POLR2A	chr5:114961178-114962358	K562	blood:	n/a	n/a
34	REST	chr5:114960950-114962674	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr5:114961181-114962397	GM19193	blood:	n/a	n/a
36	MYC	chr5:114961367-114962411	Hela-S3	cervix:	n/a	n/a
37	MAX	chr5:114961149-114962407	A549	lung:	n/a	n/a
38	ZNF384	chr5:114961223-114962493	K562	blood:	n/a	n/a
39	POLR2A	chr5:114961177-114962396	GM12892	blood:	n/a	n/a
40	MAX	chr5:114961116-114962499	HepG2	liver:	n/a	n/a
41	MYC	chr5:114961213-114962472	NB4	blood:	n/a	n/a
42	MAX	chr5:114961200-114962564	NB4	blood:	n/a	n/a
43	POLR2A	chr5:114961409-114962373	U87	brain:	n/a	n/a
44	POLR2A	chr5:114961345-114962369	A549	lung:	n/a	n/a
45	SMC3	chr5:114961561-114962544	Hela-S3	cervix:	n/a	n/a
46	SIN3A	chr5:114961102-114962486	GM12878	blood:	n/a	n/a
47	RFX5	chr5:114962199-114962621	K562	blood:	n/a	n/a
48	ZNF263	chr5:114960102-114962419	HEK293-T-REx	kidney:	n/a	n/a
49	RCOR1	chr5:114961264-114962426	Hela-S3	cervix:	n/a	n/a
50	MYC	chr5:114961475-114962498	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:114962299-114962349	AoSMC	blood vessel:	n/a
2	chr5:114962299-114962349	MCF-7	breast:	n/a
3	chr5:114962299-114962349	K562	blood:	n/a
4	chr5:114962299-114962349	Hepatocyte	liver:	n/a
5	chr5:114962299-114962349	AG09319	gingival:	n/a
6	chr5:114962299-114962349	ECC-1	luminal epithelium:	n/a
7	chr5:114962299-114962349	HRCEpiC	kidney:	n/a
8	chr5:114962299-114962349	SK-N-MC	brain:	n/a
9	chr5:114962299-114962349	HAEpiC	amniotic membrane:	n/a
10	chr5:114962299-114962349	AG04449	skin:	fetal
11	chr5:114962299-114962349	LNCaP	prostate:	n/a
12	chr5:114962299-114962349	GM19239	blood:	n/a
13	chr5:114962299-114962349	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:114962299-114962349	HCF	heart:	n/a
15	chr5:114962299-114962349	GM12892	blood:	n/a
16	chr5:114962299-114962349	ovcar-3	ovarian:	n/a
17	chr5:114962299-114962349	MCF10A-Er-Src	breast:	n/a
18	chr5:114962299-114962349	SAEC	small airway:	n/a
19	chr5:114962299-114962349	HEEpiC	esophagus:	n/a
20	chr5:114962299-114962349	HCM	heart:	n/a
21	chr5:114962299-114962349	NB4	blood:	n/a
22	chr5:114962299-114962349	HIPEpiC	eye:	n/a
23	chr5:114962299-114962349	HNPCEpiC	eye:	n/a
24	chr5:114962299-114962349	HUVEC	blood vessel:	n/a
25	chr5:114962299-114962349	HEK293	kidney:	embryo
26	chr5:114962299-114962349	GM12878	blood:	n/a
27	chr5:114962299-114962349	A549	lung:	n/a
28	chr5:114962299-114962349	NHBE	bronchial:	n/a
29	chr5:114962299-114962349	CMK	blood:	n/a
30	chr5:114962299-114962349	HL-60	blood:	n/a
31	chr5:114962299-114962349	GM12891	blood:	n/a
32	chr5:114962299-114962349	NH-A	brain:	n/a
33	chr5:114962299-114962349	AG04450	lung:	fetal
34	chr5:114962299-114962349	T-47D	breast:	n/a
35	chr5:114962299-114962349	IMR90	lung:	fetal
36	chr5:114962299-114962349	HRE	kidney:	n/a
37	chr5:114962299-114962349	SK-N-SH	brain:	n/a
38	chr5:114962299-114962349	ProgFib	skin:	n/a
39	chr5:114962299-114962349	Caco-2	colon:	n/a
40	chr5:114962299-114962349	HCT-116	colon:	n/a
41	chr5:114962299-114962349	BJ	skin:	n/a
42	chr5:114962299-114962349	HCPEpiC	choroid plexus:	n/a
43	chr5:114962299-114962349	AG09309	skin:	n/a
44	chr5:114962299-114962349	HRPEpiC	eye:	n/a
45	chr5:114962299-114962349	SK-N-SH_RA	brain:	n/a
46	chr5:114962299-114962349	GM06990	blood:	n/a
47	chr5:114962299-114962349	PANC-1	pancreas:	n/a
48	chr5:114962299-114962349	H1-hESC	embryonic stem cell:	embryo
49	chr5:114962299-114962349	SKMC	muscle:	n/a
50	chr5:114962299-114962349	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:
2	chr5:114960865..114962954-chr5:115170753..115172835,2	MCF-7	breast:
3	chr5:114960793..114963745-chr5:114966203..114968929,3	MCF-7	breast:
4	chr5:114961758..114963636-chr5:115175834..115179975,3	K562	blood:
5	chr5:114630838..114633826-chr5:114960976..114962823,3	MCF-7	breast:
6	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:
7	chr5:114878501..114880649-chr5:114962329..114964863,2	K562	blood:
8	chr5:114630095..114632050-chr5:114960167..114962829,2	MCF-7	breast:
9	chr5:114960090..114964183-chr5:115419193..115421485,4	MCF-7	breast:
10	chr5:114959625..114963439-chr5:115175786..115178902,4	MCF-7	breast:
11	chr5:114961103..114964725-chr5:115175944..115179319,4	K562	blood:
12	chr5:114961228..114962989-chr5:115170828..115173503,2	MCF-7	breast:

No data

Variant related genes	Relation type
TICAM2	TF binding region
TMED7-TICAM2	TF binding region
TMED7	TF binding region
TMED7-TICAM2	CpG island
TMED7	CpG island
TICAM2	CpG island
ENSG00000134970	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000249249	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000145780	Chromatin interaction
ENSG00000271918	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10055677	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13164545	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13186296	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs171774	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2303747	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256941	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256942	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256944	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256945	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256947	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256948	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256949	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256950	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256951	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256952	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256953	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256954	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256962	0.97[ASN][1000 genomes]
rs256964	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs256967	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256969	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256988	0.95[EUR][1000 genomes]
rs256991	0.95[EUR][1000 genomes]
rs256993	0.95[EUR][1000 genomes]
rs256997	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256998	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs377290	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822579	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs400570	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs413059	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs415577	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs416234	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs424434	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs428191	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4920967	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62371215	0.83[ASN][1000 genomes]
rs698366	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698367	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712550	0.97[ASN][1000 genomes]
rs712551	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7702283	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702869	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702881	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790824	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9326969	0.90[AMR][1000 genomes];0.99[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114958800-114962400	Active TSS	Aorta	Aorta
2	chr5:114959200-114962400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114959400-114962400	Active TSS	Fetal Intestine Large	intestine
4	chr5:114959400-114962400	Active TSS	Left Ventricle	heart
5	chr5:114959600-114962600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:114959600-114962800	Active TSS	GM12878-XiMat	blood
7	chr5:114959800-114962400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:114960000-114962400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:114960000-114962400	Active TSS	Lung	lung
10	chr5:114960000-114962400	Active TSS	Pancreas	Pancrea
11	chr5:114960000-114962400	Active TSS	NHDF-Ad	bronchial
12	chr5:114960000-114962600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:114960000-114962600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr5:114960000-114962600	Active TSS	Stomach Mucosa	stomach
15	chr5:114960200-114962400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:114960200-114962400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:114960200-114962400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:114960200-114962400	Active TSS	Gastric	stomach
19	chr5:114960200-114962400	Active TSS	NHLF	lung
20	chr5:114960200-114962600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr5:114960200-114962600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:114960200-114962600	Active TSS	Fetal Muscle Trunk	muscle
23	chr5:114960200-114962600	Active TSS	HSMMtube	muscle
24	chr5:114960400-114962400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:114960400-114962400	Active TSS	Ovary	ovary
26	chr5:114960400-114962400	Active TSS	HMEC	breast
27	chr5:114960400-114962600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:114960400-114962600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:114960400-114962600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr5:114960400-114962600	Active TSS	Placenta	Placenta
31	chr5:114960400-114962600	Active TSS	HSMM	muscle
32	chr5:114960400-114962600	Active TSS	K562	blood
33	chr5:114960600-114962400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:114960600-114962400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr5:114960600-114962400	Active TSS	Fetal Intestine Small	intestine
36	chr5:114960600-114962400	Active TSS	Psoas Muscle	Psoas
37	chr5:114960600-114962400	Active TSS	Small Intestine	intestine
38	chr5:114960600-114962400	Active TSS	A549	lung
39	chr5:114960600-114962600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:114960600-114962600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:114960600-114962600	Active TSS	Fetal Muscle Leg	muscle
42	chr5:114960600-114962600	Active TSS	Right Ventricle	heart
43	chr5:114960600-114962600	Active TSS	Stomach Smooth Muscle	stomach
44	chr5:114960600-114962600	Bivalent/Poised TSS	HepG2	liver
45	chr5:114960600-114962600	Active TSS	Osteobl	bone
46	chr5:114960800-114962400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:114960800-114962400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:114960800-114962400	Active TSS	Brain Angular Gyrus	brain
49	chr5:114960800-114962400	Active TSS	Fetal Kidney	kidney
50	chr5:114960800-114962400	Active TSS	Sigmoid Colon	Sigmoid Colon

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