Variant report

Variant	rs17033351
Chromosome Location	chr4:103749654-103749655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:103747681-103749825	HUVEC	blood vessel:	n/a	n/a
2	HEY1	chr4:103747721-103749756	HepG2	liver:	n/a	chr4:103748332-103748347
3	CTCF	chr4:103749540-103749690	GM12871	blood:	n/a	n/a
4	POLR2A	chr4:103747377-103749984	HL-60	blood:	n/a	n/a
5	TCF12	chr4:103749172-103749704	GM12878	blood:	n/a	n/a
6	FOXA1	chr4:103748938-103749749	HepG2	liver:	n/a	n/a
7	CTCF	chr4:103749505-103749697	MCF-7	breast:	n/a	n/a
8	BCLAF1	chr4:103747444-103750011	GM12878	blood:	n/a	chr4:103748724-103748733 chr4:103749806-103749815
9	POLR2A	chr4:103747602-103749671	GM10847	blood:	n/a	n/a
10	SIN3AK20	chr4:103747794-103749706	MCF-7	breast:	n/a	n/a
11	USF2	chr4:103749143-103749782	HepG2	liver:	n/a	n/a
12	CTCF	chr4:103749580-103749730	MCF-7	breast:	n/a	n/a
13	E2F6	chr4:103749117-103749670	K562	blood:	n/a	chr4:103749343-103749357
14	E2F4	chr4:103748017-103749685	MCF10A-Er-Src	breast:	n/a	chr4:103749343-103749357
15	POLR2A	chr4:103747795-103749750	A549	lung:	n/a	n/a
16	SIN3AK20	chr4:103747756-103749962	HCT-116	colon:	n/a	n/a
17	TCF12	chr4:103747781-103749846	ECC-1	luminal epithelium:	n/a	chr4:103748203-103748210 chr4:103748186-103748193
18	CHD2	chr4:103747865-103749755	K562	blood:	n/a	chr4:103748391-103748401 chr4:103748142-103748152
19	CTCF	chr4:103749552-103749705	MCF-7	breast:	n/a	n/a
20	EBF1	chr4:103749159-103749755	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:103747794-103749794	MCF-7	breast:	n/a	n/a
22	POLR2A	chr4:103747555-103749909	K562	blood:	n/a	n/a
23	MYC	chr4:103749345-103749673	HepG2	liver:	n/a	chr4:103749588-103749599 chr4:103749588-103749599 chr4:103749590-103749597 chr4:103749589-103749598
24	SIN3A	chr4:103747781-103749757	GM12878	blood:	n/a	chr4:103748885-103748893 chr4:103748507-103748518
25	BHLHE40	chr4:103747970-103749844	HepG2	liver:	n/a	n/a
26	CTCF	chr4:103749580-103749730	NHDF-neo	bronchial:	n/a	n/a
27	ZBTB33	chr4:103747805-103749729	SK-N-SH	brain:	n/a	chr4:103749692-103749701 chr4:103748325-103748335
28	FOS	chr4:103749029-103749754	MCF10A-Er-Src	breast:	n/a	chr4:103749654-103749666
29	CHD2	chr4:103747731-103749947	GM12878	blood:	n/a	chr4:103748391-103748401 chr4:103748142-103748152
30	CTCF	chr4:103749620-103749770	HMF	breast:	n/a	n/a
31	CTCF	chr4:103749478-103749712	GM19240	blood:	n/a	n/a
32	FOXM1	chr4:103747599-103749846	GM12878	blood:	n/a	n/a
33	CEBPB	chr4:103748170-103749687	HepG2	liver:	n/a	n/a
34	ZBTB33	chr4:103748493-103749796	HepG2	liver:	n/a	chr4:103749692-103749701
35	POLR2A	chr4:103746212-103750739	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr4:103748208-103749728	HepG2	liver:	n/a	n/a
37	USF1	chr4:103749267-103749689	K562	blood:	n/a	n/a
38	NFATC1	chr4:103747587-103749951	GM12878	blood:	n/a	n/a
39	MYBL2	chr4:103747828-103750090	HepG2	liver:	n/a	n/a
40	STAT1	chr4:103747901-103749750	GM12878	blood:	n/a	chr4:103748184-103748195 chr4:103748548-103748560 chr4:103748931-103748943 chr4:103748725-103748737 chr4:103748024-103748036 chr4:103748926-103748938
41	TBP	chr4:103747894-103749898	GM12878	blood:	n/a	n/a
42	ARID3A	chr4:103748083-103749793	HepG2	liver:	n/a	n/a
43	ATF1	chr4:103748611-103749747	K562	blood:	n/a	n/a
44	POLR2A	chr4:103747624-103749965	HUVEC	blood vessel:	n/a	n/a
45	CEBPB	chr4:103748632-103749732	A549	lung:	n/a	n/a
46	CEBPB	chr4:103749030-103749769	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF3	chr4:103749276-103749746	GM12878	blood:	n/a	n/a
48	GATA1	chr4:103748123-103749886	PBDE	blood:	n/a	chr4:103748221-103748231
49	IRF1	chr4:103747922-103749664	K562	blood:	n/a	chr4:103748183-103748203 chr4:103748184-103748197 chr4:103748185-103748199 chr4:103748184-103748195 chr4:103748184-103748198 chr4:103748184-103748197 chr4:103748184-103748197 chr4:103748184-103748197
50	MTA3	chr4:103748342-103750097	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:103419348..103423957-chr4:103746554..103750456,7	MCF-7	breast:
2	chr4:103730843..103736706-chr4:103746374..103749972,8	MCF-7	breast:
3	chr4:103264289..103266526-chr4:103747342..103750313,2	K562	blood:
4	chr4:103747527..103750862-chr4:103937830..103941231,4	MCF-7	breast:
5	chr4:103702526..103704936-chr4:103749468..103751698,3	K562	blood:
6	chr4:103749258..103750005-chr4:103790000..103790583,2	Hela-S3	cervix:
7	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
8	chr4:103670492..103673168-chr4:103747982..103750362,2	K562	blood:
9	chr4:103680041..103683633-chr4:103747125..103750295,6	MCF-7	breast:
10	chr4:103723421..103727498-chr4:103747024..103749804,3	MCF-7	breast:
11	chr4:103745482..103752084-chr4:103788371..103792114,20	MCF-7	breast:
12	chr4:103681040..103682916-chr4:103749377..103751215,2	K562	blood:
13	chr4:103649437..103652154-chr4:103748194..103749901,2	K562	blood:
14	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
15	chr4:103749281..103749855-chr5:90676339..90677065,2	Hela-S3	cervix:
16	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
17	chr2:70316209..70318717-chr4:103747882..103750776,2	MCF-7	breast:
18	chr4:103748747..103750946-chr4:103939260..103942064,3	MCF-7	breast:
19	chr4:103422470..103425654-chr4:103747796..103750322,3	MCF-7	breast:
20	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:

Variant related genes	Relation type
UBE2D3	TF binding region
ENSG00000245322	Chromatin interaction
ENSG00000230069	Chromatin interaction
ENSG00000260651	Chromatin interaction
ENSG00000138821	Chromatin interaction
ENSG00000248971	Chromatin interaction
ENSG00000109323	Chromatin interaction
ENSG00000233060	Chromatin interaction
ENSG00000164037	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000238948	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000109320	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000251288	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17033093	0.82[ASW][hapmap]
rs17033248	1.00[CEU][hapmap]
rs3974625	1.00[CEU][hapmap]
rs6811212	1.00[CEU][hapmap]
rs6827148	1.00[CEU][hapmap]
rs6847207	1.00[CEU][hapmap]
rs7668564	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap]
rs7670621	1.00[CEU][hapmap]
rs7670680	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs7677366	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs7677599	1.00[CEU][hapmap]
rs7690706	1.00[CEU][hapmap]
rs7698383	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap]
rs7699703	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap]
rs9307278	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap]

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	nsv594957	chr4:103728010-103870091	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103742000-103750200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:103743200-103750000	Active TSS	Aorta	Aorta
3	chr4:103743600-103750200	Active TSS	NHLF	lung
4	chr4:103744000-103750400	Active TSS	Right Ventricle	heart
5	chr4:103744400-103750000	Active TSS	Ovary	ovary
6	chr4:103744400-103750200	Active TSS	Left Ventricle	heart
7	chr4:103744400-103750200	Active TSS	HSMMtube	muscle
8	chr4:103744400-103750400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:103744800-103750400	Active TSS	Colonic Mucosa	Colon
10	chr4:103744800-103750600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:103745000-103749800	Active TSS	Lung	lung
12	chr4:103745000-103750000	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr4:103745000-103750200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:103745200-103750200	Active TSS	HMEC	breast
15	chr4:103745200-103750200	Active TSS	NHDF-Ad	bronchial
16	chr4:103745200-103750400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:103745400-103749800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:103745400-103749800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:103745400-103749800	Active TSS	Stomach Smooth Muscle	stomach
20	chr4:103745400-103750200	Active TSS	A549	lung
21	chr4:103745400-103750200	Active TSS	Hela-S3	cervix
22	chr4:103745400-103750400	Active TSS	GM12878-XiMat	blood
23	chr4:103745400-103750800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:103745600-103749800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr4:103745600-103750000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr4:103745800-103749800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:103745800-103750000	Active TSS	Fetal Muscle Trunk	muscle
28	chr4:103745800-103750200	Active TSS	Fetal Intestine Large	intestine
29	chr4:103745800-103750200	Active TSS	Psoas Muscle	Psoas
30	chr4:103745800-103750400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr4:103745800-103750400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:103746000-103749800	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr4:103746000-103749800	Active TSS	Brain Substantia Nigra	brain
34	chr4:103746000-103749800	Active TSS	Colon Smooth Muscle	Colon
35	chr4:103746000-103749800	Active TSS	Fetal Heart	heart
36	chr4:103746000-103749800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr4:103746000-103749800	Active TSS	Thymus	Thymus
38	chr4:103746000-103750000	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:103746000-103750200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:103746000-103750200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:103746000-103750200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr4:103746000-103750400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:103746000-103750400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:103746000-103750400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:103746000-103750600	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:103746000-103750600	Active TSS	Rectal Smooth Muscle	rectum
47	chr4:103746200-103750000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:103746400-103749800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:103746400-103749800	Active TSS	Small Intestine	intestine
50	chr4:103746400-103749800	Active TSS	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links