Variant report

Variant	rs4147148
Chromosome Location	chr1:165567555-165567556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:287)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:287 , 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	POLR2A	chr1:165567267-165567753	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr1:165567134-165567870	H1-hESC	embryonic stem cell:	n/a	chr1:165567154-165567162 chr1:165567152-165567163 chr1:165567153-165567163
3	ZNF143	chr1:165567300-165567630	Hela-S3	cervix:	n/a	n/a
4	MAX	chr1:165567102-165568043	A549	lung:	n/a	n/a
5	SPI1	chr1:165567391-165567669	K562	blood:	n/a	n/a
6	CHD2	chr1:165567294-165567651	H1-hESC	embryonic stem cell:	n/a	n/a
7	EGR1	chr1:165567196-165567839	MCF-7	breast:	n/a	chr1:165567590-165567600
8	ZNF384	chr1:165567289-165567798	K562	blood:	n/a	n/a
9	POLR2A	chr1:165567267-165568058	HUVEC	blood vessel:	n/a	n/a
10	SPI1	chr1:165567408-165567609	GM12878	blood:	n/a	n/a
11	IRF3	chr1:165567378-165567690	Hela-S3	cervix:	n/a	chr1:165567590-165567604
12	POLR2A	chr1:165567258-165567769	K562	blood:	n/a	n/a
13	POLR2A	chr1:165567467-165567804	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:165567264-165567755	Hela-S3	cervix:	n/a	n/a
15	SMC3	chr1:165567350-165567619	K562	blood:	n/a	n/a
16	SPI1	chr1:165567207-165567772	GM12891	blood:	n/a	n/a
17	POLR2A	chr1:165567386-165567826	MCF-7	breast:	n/a	n/a
18	RCOR1	chr1:165567342-165567725	HepG2	liver:	n/a	n/a
19	SP2	chr1:165567310-165567752	HepG2	liver:	n/a	chr1:165567510-165567525
20	POLR2A	chr1:165567273-165567696	HUVEC	blood vessel:	n/a	n/a
21	IRF3	chr1:165567400-165567817	GM12878	blood:	n/a	chr1:165567590-165567604
22	SREBP1	chr1:165567267-165567829	HepG2	liver:	n/a	chr1:165567421-165567435 chr1:165567422-165567436
23	E2F6	chr1:165567237-165567913	K562	blood:	n/a	n/a
24	CHD2	chr1:165567225-165567864	K562	blood:	n/a	n/a
25	POLR2A	chr1:165567261-165567758	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr1:165567101-165568025	K562	blood:	n/a	n/a
27	TAF1	chr1:165567238-165567774	SK-N-SH	brain:	n/a	n/a
28	EGR1	chr1:165567195-165567715	H1-hESC	embryonic stem cell:	n/a	chr1:165567590-165567600
29	BACH1	chr1:165567360-165567882	K562	blood:	n/a	n/a
30	THAP1	chr1:165567244-165567682	K562	blood:	n/a	n/a
31	POLR2A	chr1:165567491-165567887	ProgFib	skin:	n/a	n/a
32	POLR2A	chr1:165567299-165567661	A549	lung:	n/a	n/a
33	MYC	chr1:165567037-165567707	MCF10A-Er-Src	breast:	n/a	n/a
34	EGR1	chr1:165567190-165567764	ECC-1	luminal epithelium:	n/a	chr1:165567590-165567600
35	SIN3A	chr1:165567166-165568046	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOS	chr1:165567290-165567812	K562	blood:	n/a	n/a
37	RFX5	chr1:165566947-165567925	Hela-S3	cervix:	n/a	chr1:165567421-165567436 chr1:165567420-165567437 chr1:165567429-165567437 chr1:165567421-165567436 chr1:165567385-165567399 chr1:165567421-165567436
38	TBP	chr1:165567255-165567913	K562	blood:	n/a	n/a
39	MYC	chr1:165567215-165567602	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:165567208-165567907	IMR90	lung:	n/a	n/a
41	EGR1	chr1:165567128-165567807	MCF-7	breast:	n/a	chr1:165567590-165567600
42	WRNIP1	chr1:165567358-165567975	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr1:165566991-165567785	K562	blood:	n/a	n/a
44	POLR2A	chr1:165567535-165567665	HepG2	liver:	n/a	n/a
45	IRF1	chr1:165567268-165567896	K562	blood:	n/a	chr1:165567590-165567604
46	POLR2A	chr1:165567338-165567816	HepG2	liver:	n/a	n/a
47	USF2	chr1:165567502-165567856	GM12878	blood:	n/a	n/a
48	HCFC1	chr1:165567273-165568301	K562	blood:	n/a	n/a
49	POLR2A	chr1:165567518-165567808	GM12891	blood:	n/a	n/a
50	POLR2A	chr1:165567159-165568212	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	chr1:165567529-165567579	HPAEpiC	pulmonary alveolar:	n/a
2	chr1:165567529-165567579	SAEC	small airway:	n/a
3	chr1:165567529-165567579	HepG2	liver:	n/a
4	chr1:165567529-165567579	HCM	heart:	n/a
5	chr1:165567529-165567579	NB4	blood:	n/a
6	chr1:165567529-165567579	ECC-1	luminal epithelium:	n/a
7	chr1:165567529-165567579	HCF	heart:	n/a
8	chr1:165567529-165567579	IMR90	lung:	fetal
9	chr1:165567529-165567579	PANC-1	pancreas:	n/a
10	chr1:165567529-165567579	SKMC	muscle:	n/a
11	chr1:165567529-165567579	PrEC	prostate:	n/a
12	chr1:165567529-165567579	AG09319	gingival:	n/a
13	chr1:165567529-165567579	HCPEpiC	choroid plexus:	n/a
14	chr1:165567529-165567579	NHBE	bronchial:	n/a
15	chr1:165567529-165567579	H1-hESC	embryonic stem cell:	embryo
16	chr1:165567529-165567579	HMEC	breast:	n/a
17	chr1:165567529-165567579	NHDF-neo	bronchial:	n/a
18	chr1:165567529-165567579	ProgFib	skin:	n/a
19	chr1:165567529-165567579	HAEpiC	amniotic membrane:	n/a
20	chr1:165567529-165567579	GM19239	blood:	n/a
21	chr1:165567529-165567579	CMK	blood:	n/a
22	chr1:165567529-165567579	HUVEC	blood vessel:	n/a
23	chr1:165567529-165567579	K562	blood:	n/a
24	chr1:165567529-165567579	AoSMC	blood vessel:	n/a
25	chr1:165567529-165567579	Hela-S3	cervix:	n/a
26	chr1:165567529-165567579	SK-N-SH	brain:	n/a
27	chr1:165567529-165567579	GM12878	blood:	n/a
28	chr1:165567529-165567579	BJ	skin:	n/a
29	chr1:165567529-165567579	LNCaP	prostate:	n/a
30	chr1:165567529-165567579	A549	lung:	n/a
31	chr1:165567529-165567579	PFSK-1	brain:	n/a
32	chr1:165567529-165567579	SK-N-MC	brain:	n/a
33	chr1:165567529-165567579	BE2_C	brain:	n/a
34	chr1:165567529-165567579	GM12891	blood:	n/a
35	chr1:165567529-165567579	NH-A	brain:	n/a
36	chr1:165567529-165567579	HEEpiC	esophagus:	n/a
37	chr1:165567529-165567579	HEK293	kidney:	embryo
38	chr1:165567529-165567579	GM12892	blood:	n/a
39	chr1:165567529-165567579	HCT-116	colon:	n/a
40	chr1:165567529-165567579	HIPEpiC	eye:	n/a
41	chr1:165567529-165567579	HRPEpiC	eye:	n/a
42	chr1:165567529-165567579	MCF10A-Er-Src	breast:	n/a
43	chr1:165567529-165567579	RPTEC	kidney:	n/a
44	chr1:165567529-165567579	Caco-2	colon:	n/a
45	chr1:165567529-165567579	HL-60	blood:	n/a
46	chr1:165567529-165567579	MCF-7	breast:	n/a
47	chr1:165567529-165567579	U87	brain:	n/a
48	chr1:165567529-165567579	Jurkat	blood:	n/a
49	chr1:165567529-165567579	SK-N-SH_RA	brain:	n/a
50	chr1:165567529-165567579	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165564921..165568209-chr1:165795710..165798284,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGST3-1	chr1:165567006-165569013	NONHSAT007321

No data

Variant related genes	Relation type
ENSG00000236206	TF binding region
ENSG00000236206	CpG island
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10918220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918226	1.00[CHB][hapmap]
rs1538114	1.00[CHB][hapmap]
rs1913839	1.00[ASN][1000 genomes]
rs206235	1.00[ASN][1000 genomes]
rs2459239	1.00[ASN][1000 genomes]
rs2478265	1.00[ASN][1000 genomes]
rs2485402	1.00[ASN][1000 genomes]
rs3856210	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs407380	1.00[ASN][1000 genomes]
rs4147147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417973	1.00[ASN][1000 genomes]
rs425833	1.00[ASN][1000 genomes]
rs6657788	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes]
rs6658200	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6672933	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6677016	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692264	1.00[CHB][hapmap]
rs7537290	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9333476	1.00[CHB][hapmap]
rs952375	0.90[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	nsv429902	chr1:165531342-165574342	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:165566600-165567800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:165566600-165568000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:165566600-165568000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:165566800-165567800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:165566800-165568000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:165566800-165568000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr1:165566800-165568000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:165566800-165568000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:165566800-165568000	Active TSS	Colonic Mucosa	Colon
10	chr1:165566800-165568000	Active TSS	Fetal Brain Male	brain
11	chr1:165566800-165568200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:165566800-165568200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:165566800-165568200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:165566800-165568200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:165566800-165568200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:165566800-165568200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:165566800-165568200	Flanking Active TSS	Dnd41	blood
18	chr1:165566800-165568200	Flanking Active TSS	K562	blood
19	chr1:165566800-165568600	Active TSS	Brain Germinal Matrix	brain
20	chr1:165567000-165567600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:165567000-165567600	Active TSS	GM12878-XiMat	blood
22	chr1:165567000-165567600	Active TSS	HUVEC	blood vessel
23	chr1:165567000-165567600	Active TSS	NH-A	brain
24	chr1:165567000-165567600	Active TSS	NHEK	skin
25	chr1:165567000-165567800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:165567000-165567800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:165567000-165567800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:165567000-165567800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:165567000-165567800	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr1:165567000-165567800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:165567000-165567800	Active TSS	Adipose Nuclei	Adipose
32	chr1:165567000-165567800	Active TSS	Brain Anterior Caudate	brain
33	chr1:165567000-165567800	Active TSS	Brain Substantia Nigra	brain
34	chr1:165567000-165567800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:165567000-165567800	Active TSS	Fetal Stomach	stomach
36	chr1:165567000-165567800	Active TSS	Ovary	ovary
37	chr1:165567000-165567800	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:165567000-165567800	Active TSS	HSMM	muscle
39	chr1:165567000-165567800	Active TSS	NHDF-Ad	bronchial
40	chr1:165567000-165567800	Active TSS	NHLF	lung
41	chr1:165567000-165567800	Active TSS	Osteobl	bone
42	chr1:165567000-165568000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr1:165567000-165568000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:165567000-165568000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:165567000-165568000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr1:165567000-165568000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:165567000-165568000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:165567000-165568000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:165567000-165568000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:165567000-165568000	Active TSS	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links