Variant report

Variant	rs7246583
Chromosome Location	chr19:38806902-38806903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:38806505-38807125	A549	lung:	n/a	n/a
2	BHLHE40	chr19:38806202-38807157	GM12878	blood:	n/a	n/a
3	JUND	chr19:38806698-38806979	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAZ	chr19:38806264-38806902	HepG2	liver:	n/a	n/a
5	NFYB	chr19:38806500-38807029	GM12878	blood:	n/a	n/a
6	TBP	chr19:38806744-38807159	GM12878	blood:	n/a	n/a
7	GTF2B	chr19:38806383-38806974	K562	blood:	n/a	n/a
8	MYC	chr19:38806462-38806907	MCF-7	breast:	n/a	n/a
9	NR2F2	chr19:38805776-38807445	K562	blood:	n/a	chr19:38806412-38806427 chr19:38806409-38806424
10	POLR2A	chr19:38806237-38807061	GM18526	blood:	n/a	n/a
11	YY1	chr19:38806293-38807043	HepG2	liver:	n/a	chr19:38806562-38806571
12	POLR2A	chr19:38806341-38806990	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:38806677-38806962	A549	lung:	n/a	n/a
14	POLR2A	chr19:38806688-38807120	HCT-116	colon:	n/a	n/a
15	UBTF	chr19:38806417-38807137	K562	blood:	n/a	n/a
16	STAT5A	chr19:38806701-38807288	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:38806284-38807173	GM12878	blood:	n/a	n/a
18	EBF1	chr19:38806585-38806979	GM12878	blood:	n/a	chr19:38806820-38806831
19	MAX	chr19:38806395-38806958	Hela-S3	cervix:	n/a	n/a
20	HEY1	chr19:38806681-38807288	K562	blood:	n/a	n/a
21	SIN3AK20	chr19:38806703-38807356	A549	lung:	n/a	n/a
22	GTF3C2	chr19:38806271-38807387	K562	blood:	n/a	n/a
23	STAT1	chr19:38806576-38806942	GM12878	blood:	n/a	n/a
24	POU2F2	chr19:38806698-38807284	GM12891	blood:	n/a	n/a
25	SIN3A	chr19:38806101-38806961	GM12878	blood:	n/a	n/a
26	RFX5	chr19:38806735-38807083	HepG2	liver:	n/a	n/a
27	BCL3	chr19:38805728-38807472	A549	lung:	n/a	n/a
28	USF1	chr19:38806164-38807127	A549	lung:	n/a	n/a
29	POLR2A	chr19:38806728-38806984	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:38806713-38807033	K562	blood:	n/a	n/a
31	CEBPB	chr19:38806361-38806974	HepG2	liver:	n/a	n/a
32	GTF2F1	chr19:38806468-38807003	K562	blood:	n/a	n/a
33	GTF2F1	chr19:38806800-38806944	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr19:38806490-38807141	A549	lung:	n/a	n/a
35	ZMIZ1	chr19:38805988-38807224	K562	blood:	n/a	n/a
36	SP1	chr19:38806537-38806982	GM12878	blood:	n/a	chr19:38806671-38806681 chr19:38806670-38806682 chr19:38806665-38806679 chr19:38806672-38806681 chr19:38806635-38806656 chr19:38806670-38806682 chr19:38806613-38806623
37	POLR2A	chr19:38806264-38807173	U87	brain:	n/a	n/a
38	TBP	chr19:38806763-38807119	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:38806700-38806975	A549	lung:	n/a	n/a
40	FOS	chr19:38806749-38806940	MCF10A-Er-Src	breast:	n/a	n/a
41	CTCF	chr19:38806760-38806910	HEK293	kidney:	n/a	chr19:38806823-38806836
42	YY1	chr19:38806119-38806980	K562	blood:	n/a	chr19:38806562-38806571
43	POLR2A	chr19:38806685-38807132	K562	blood:	n/a	n/a
44	CHD2	chr19:38806268-38807152	Hela-S3	cervix:	n/a	chr19:38806664-38806674
45	POLR2A	chr19:38806674-38806975	A549	lung:	n/a	n/a
46	FOSL2	chr19:38806430-38807007	HepG2	liver:	n/a	n/a
47	MXI1	chr19:38806288-38806959	HepG2	liver:	n/a	n/a
48	REST	chr19:38806574-38807305	A549	lung:	n/a	n/a
49	POLR2A	chr19:38806286-38807080	GM15510	blood:	n/a	n/a
50	CBX3	chr19:38806405-38807275	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38806874-38806924	HCM	heart:	n/a
2	chr19:38806874-38806924	SK-N-MC	brain:	n/a
3	chr19:38806874-38806924	BJ	skin:	n/a
4	chr19:38806874-38806924	LNCaP	prostate:	n/a
5	chr19:38806874-38806924	NB4	blood:	n/a
6	chr19:38806874-38806924	Hela-S3	cervix:	n/a
7	chr19:38806874-38806924	GM06990	blood:	n/a
8	chr19:38806874-38806924	AG09319	gingival:	n/a
9	chr19:38806874-38806924	T-47D	breast:	n/a
10	chr19:38806874-38806924	HEK293	kidney:	embryo
11	chr19:38806874-38806924	RPTEC	kidney:	n/a
12	chr19:38806874-38806924	HIPEpiC	eye:	n/a
13	chr19:38806874-38806924	ovcar-3	ovarian:	n/a
14	chr19:38806874-38806924	NHDF-neo	bronchial:	n/a
15	chr19:38806874-38806924	AoSMC	blood vessel:	n/a
16	chr19:38806874-38806924	A549	lung:	n/a
17	chr19:38806874-38806924	GM12878	blood:	n/a
18	chr19:38806874-38806924	GM12891	blood:	n/a
19	chr19:38806874-38806924	NH-A	brain:	n/a
20	chr19:38806874-38806924	HepG2	liver:	n/a
21	chr19:38806874-38806924	AG09309	skin:	n/a
22	chr19:38806874-38806924	K562	blood:	n/a
23	chr19:38806874-38806924	GM19239	blood:	n/a
24	chr19:38806874-38806924	Hepatocyte	liver:	n/a
25	chr19:38806874-38806924	ECC-1	luminal epithelium:	n/a
26	chr19:38806874-38806924	HL-60	blood:	n/a
27	chr19:38806874-38806924	ProgFib	skin:	n/a
28	chr19:38806874-38806924	NHBE	bronchial:	n/a
29	chr19:38806874-38806924	HRCEpiC	kidney:	n/a
30	chr19:38806874-38806924	PANC-1	pancreas:	n/a
31	chr19:38806874-38806924	GM12892	blood:	n/a
32	chr19:38806874-38806924	U87	brain:	n/a
33	chr19:38806874-38806924	HRPEpiC	eye:	n/a
34	chr19:38806874-38806924	HRE	kidney:	n/a
35	chr19:38806874-38806924	HCT-116	colon:	n/a
36	chr19:38806874-38806924	Jurkat	blood:	n/a
37	chr19:38806874-38806924	Caco-2	colon:	n/a
38	chr19:38806874-38806924	MCF10A-Er-Src	breast:	n/a
39	chr19:38806874-38806924	PrEC	prostate:	n/a
40	chr19:38806874-38806924	HCF	heart:	n/a
41	chr19:38806874-38806924	AG04449	skin:	fetal
42	chr19:38806874-38806924	AG10803	skin:	n/a
43	chr19:38806874-38806924	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:38806874-38806924	PFSK-1	brain:	n/a
45	chr19:38806874-38806924	SK-N-SH_RA	brain:	n/a
46	chr19:38806874-38806924	SKMC	muscle:	n/a
47	chr19:38806874-38806924	SK-N-SH	brain:	n/a
48	chr19:38806874-38806924	IMR90	lung:	fetal
49	chr19:38806874-38806924	HAEpiC	amniotic membrane:	n/a
50	chr19:38806874-38806924	SAEC	small airway:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38806188..38807107-chr7:6414078..6414612,2	Hela-S3	cervix:
2	chr19:38804679..38808674-chr19:38824887..38827856,7	K562	blood:
3	chr19:38805296..38807779-chr19:38877097..38880049,2	K562	blood:
4	chr19:38806332..38809400-chr19:38825014..38828541,5	K562	blood:
5	chr19:38800007..38802686-chr19:38805252..38808238,5	K562	blood:
6	chr19:38755234..38758154-chr19:38804246..38806924,3	K562	blood:
7	chr19:38746183..38748575-chr19:38806704..38809483,2	K562	blood:
8	chr19:38804471..38807313-chr19:38874109..38876554,2	MCF-7	breast:
9	chr19:38805271..38808237-chr19:39322535..39325453,2	K562	blood:
10	chr19:38755242..38758154-chr19:38804246..38806924,2	K562	blood:
11	chr19:38753883..38755727-chr19:38805197..38807267,2	MCF-7	breast:
12	chr19:38795298..38801659-chr19:38801673..38807893,10	K562	blood:
13	chr19:38806279..38807928-chr19:38863720..38866328,2	K562	blood:
14	chr19:38745470..38748025-chr19:38806544..38809528,4	K562	blood:

No data

Variant related genes	Relation type
YIF1B	TF binding region
KCNK6	TF binding region
YIF1B	CpG island
KCNK6	CpG island
ENSG00000179168	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000136238	Chromatin interaction
ENSG00000267090	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3786881	1.00[AMR][1000 genomes]
rs7247591	1.00[AMR][1000 genomes]
rs7249939	1.00[AMR][1000 genomes]
rs8104432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv960928	chr19:38790012-38822380	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38804800-38807000	Active TSS	K562	blood
2	chr19:38805400-38807200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:38805400-38807400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr19:38805400-38807400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:38805400-38807400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:38805600-38807000	Active TSS	HSMMtube	muscle
7	chr19:38805600-38807200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:38805600-38807400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:38805600-38807400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:38805800-38807000	Active TSS	Colon Smooth Muscle	Colon
11	chr19:38805800-38807000	Active TSS	Fetal Lung	lung
12	chr19:38805800-38807200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:38805800-38807200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:38805800-38807200	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:38805800-38807200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:38805800-38807200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:38805800-38807200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:38805800-38807200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:38805800-38807200	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:38805800-38807200	Active TSS	Psoas Muscle	Psoas
21	chr19:38805800-38807200	Active TSS	Right Ventricle	heart
22	chr19:38805800-38807200	Active TSS	NHLF	lung
23	chr19:38805800-38807400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:38805800-38807400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr19:38805800-38807400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr19:38805800-38807400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:38805800-38807400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:38805800-38807400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:38805800-38807400	Active TSS	Brain Angular Gyrus	brain
30	chr19:38805800-38807400	Active TSS	Brain Germinal Matrix	brain
31	chr19:38806000-38807000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:38806000-38807000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:38806000-38807000	Active TSS	NH-A	brain
34	chr19:38806000-38807000	Active TSS	NHDF-Ad	bronchial
35	chr19:38806000-38807200	Active TSS	Fetal Kidney	kidney
36	chr19:38806000-38807400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:38806000-38807400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr19:38806200-38807000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:38806200-38807000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:38806200-38807000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:38806200-38807000	Active TSS	Esophagus	oesophagus
42	chr19:38806200-38807000	Active TSS	Fetal Brain Female	brain
43	chr19:38806200-38807000	Active TSS	Gastric	stomach
44	chr19:38806200-38807000	Active TSS	Lung	lung
45	chr19:38806200-38807000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr19:38806200-38807000	Active TSS	Small Intestine	intestine
47	chr19:38806200-38807000	Active TSS	Spleen	Spleen
48	chr19:38806200-38807000	Active TSS	HUVEC	blood vessel
49	chr19:38806200-38807000	Active TSS	Osteobl	bone
50	chr19:38806200-38807200	Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links