Variant report

Variant	rs6702833
Chromosome Location	chr1:114521883-114521884
allele	C/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	CTCF	chr1:114521139-114522552	A549	lung:	n/a	chr1:114521558-114521576 chr1:114521559-114521575 chr1:114521560-114521581 chr1:114521561-114521574
2	REST	chr1:114521684-114522074	SK-N-SH	brain:	n/a	chr1:114522041-114522054
3	ESR1	chr1:114521845-114522119	T-47D	breast:	n/a	n/a
4	NFIC	chr1:114521635-114522259	SK-N-SH	brain:	n/a	n/a
5	TAF1	chr1:114521708-114522227	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:114521735-114522434	U87	brain:	n/a	n/a
7	CTCF	chr1:114521181-114523331	MCF-7	breast:	n/a	chr1:114521558-114521576 chr1:114521559-114521575 chr1:114521560-114521581 chr1:114521561-114521574
8	POLR2A	chr1:114518336-114522222	K562	blood:	n/a	n/a
9	CTCF	chr1:114521107-114522563	SK-N-SH	brain:	n/a	chr1:114521558-114521576 chr1:114521559-114521575 chr1:114521560-114521581 chr1:114521561-114521574
10	YY1	chr1:114521479-114522479	H1-hESC	embryonic stem cell:	n/a	n/a
11	GATA3	chr1:114521621-114522360	SK-N-SH	brain:	n/a	chr1:114521798-114521809
12	MAZ	chr1:114521605-114522216	HepG2	liver:	n/a	n/a
13	EGR1	chr1:114521860-114522146	K562	blood:	n/a	chr1:114522043-114522056 chr1:114521963-114521978
14	RAD21	chr1:114521258-114522427	HCT-116	colon:	n/a	chr1:114521559-114521578
15	SP1	chr1:114521735-114522331	H1-hESC	embryonic stem cell:	n/a	chr1:114521969-114521978 chr1:114522051-114522063 chr1:114522040-114522052 chr1:114521969-114521979 chr1:114521968-114521980 chr1:114522041-114522055 chr1:114522052-114522061 chr1:114522040-114522051 chr1:114522040-114522052 chr1:114522052-114522066 chr1:114522051-114522062 chr1:114521965-114521979 chr1:114522053-114522062 chr1:114522052-114522062
16	RAD21	chr1:114521326-114522344	SK-N-SH_RA	brain:	n/a	chr1:114521559-114521578
17	MAX	chr1:114521400-114522209	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr1:114521736-114522162	T-47D	breast:	n/a	chr1:114521798-114521809
19	ATF2	chr1:114521409-114522221	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr1:114521419-114522364	H1-hESC	embryonic stem cell:	n/a	chr1:114521573-114521582
21	SMC3	chr1:114521387-114522387	K562	blood:	n/a	chr1:114521560-114521574
22	CTCF	chr1:114521800-114521950	HMF	breast:	n/a	n/a
23	ARID3A	chr1:114521409-114522071	HepG2	liver:	n/a	n/a
24	FOXA2	chr1:114521775-114522140	HepG2	liver:	n/a	n/a
25	MAZ	chr1:114521316-114523213	IMR90	lung:	n/a	n/a
26	GATA3	chr1:114521708-114522237	MCF-7	breast:	n/a	chr1:114521798-114521809
27	JUN	chr1:114521826-114522457	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr1:114521693-114522230	SK-N-SH_RA	brain:	n/a	chr1:114521983-114521997
29	POLR2A	chr1:114521473-114522181	HUVEC	blood vessel:	n/a	n/a
30	RXRA	chr1:114521595-114522351	SK-N-SH	brain:	n/a	chr1:114522265-114522274 chr1:114521988-114521997
31	GATA3	chr1:114521523-114522306	SK-N-SH	brain:	n/a	chr1:114521798-114521809
32	POLR2A	chr1:114521178-114522238	GM12878	blood:	n/a	n/a
33	SIN3A	chr1:114521412-114522324	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr1:114521806-114522358	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:114521740-114521890	Caco-2	colon:	n/a	n/a
36	EP300	chr1:114521428-114522439	SK-N-SH	brain:	n/a	chr1:114521983-114521997
37	EP300	chr1:114521575-114522323	SK-N-SH	brain:	n/a	chr1:114521983-114521997
38	RAD21	chr1:114521286-114522425	HepG2	liver:	n/a	chr1:114521559-114521578
39	POLR2A	chr1:114521748-114522359	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:114521773-114522295	HepG2	liver:	n/a	n/a
41	MAX	chr1:114521724-114522264	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr1:114521219-114522445	MCF-7	breast:	n/a	chr1:114521558-114521576 chr1:114521559-114521575 chr1:114521560-114521581 chr1:114521561-114521574
43	POLR2A	chr1:114521386-114521966	K562	blood:	n/a	n/a
44	FOXP2	chr1:114521725-114522237	SK-N-MC	brain:	n/a	n/a
45	TCF12	chr1:114521317-114523119	SK-N-SH	brain:	n/a	chr1:114522291-114522299
46	POLR2A	chr1:114521388-114522355	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr1:114521259-114526743	SK-N-MC	brain:	n/a	n/a
48	EP300	chr1:114521744-114522195	SK-N-SH_RA	brain:	n/a	chr1:114521983-114521997
49	SIN3AK20	chr1:114521470-114522222	SK-N-SH	brain:	n/a	n/a
50	JUND	chr1:114521840-114522247	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:114521853-114521903	GM12891	blood:	n/a
2	chr1:114521853-114521903	Hepatocyte	liver:	n/a
3	chr1:114521853-114521903	HCF	heart:	n/a
4	chr1:114521853-114521903	HCT-116	colon:	n/a
5	chr1:114521853-114521903	AG04450	lung:	fetal
6	chr1:114521853-114521903	HCPEpiC	choroid plexus:	n/a
7	chr1:114521853-114521903	ovcar-3	ovarian:	n/a
8	chr1:114521853-114521903	NHDF-neo	bronchial:	n/a
9	chr1:114521853-114521903	HIPEpiC	eye:	n/a
10	chr1:114521853-114521903	HRPEpiC	eye:	n/a
11	chr1:114521853-114521903	BJ	skin:	n/a
12	chr1:114521853-114521903	SK-N-MC	brain:	n/a
13	chr1:114521853-114521903	PFSK-1	brain:	n/a
14	chr1:114521853-114521903	BE2_C	brain:	n/a
15	chr1:114521853-114521903	Hela-S3	cervix:	n/a
16	chr1:114521853-114521903	Jurkat	blood:	n/a
17	chr1:114521853-114521903	IMR90	lung:	fetal
18	chr1:114521853-114521903	SAEC	small airway:	n/a
19	chr1:114521853-114521903	MCF10A-Er-Src	breast:	n/a
20	chr1:114521853-114521903	MCF-7	breast:	n/a
21	chr1:114521853-114521903	K562	blood:	n/a
22	chr1:114521853-114521903	HMEC	breast:	n/a
23	chr1:114521853-114521903	T-47D	breast:	n/a
24	chr1:114521853-114521903	SK-N-SH_RA	brain:	n/a
25	chr1:114521853-114521903	GM12892	blood:	n/a
26	chr1:114521853-114521903	HRE	kidney:	n/a
27	chr1:114521853-114521903	HRCEpiC	kidney:	n/a
28	chr1:114521853-114521903	GM12878	blood:	n/a
29	chr1:114521853-114521903	HepG2	liver:	n/a
30	chr1:114521853-114521903	Caco-2	colon:	n/a
31	chr1:114521853-114521903	GM19239	blood:	n/a
32	chr1:114521853-114521903	ProgFib	skin:	n/a
33	chr1:114521853-114521903	PrEC	prostate:	n/a
34	chr1:114521853-114521903	RPTEC	kidney:	n/a
35	chr1:114521853-114521903	NT2-D1	testis:	n/a
36	chr1:114521853-114521903	HEK293	kidney:	embryo
37	chr1:114521853-114521903	AoSMC	blood vessel:	n/a
38	chr1:114521853-114521903	PANC-1	pancreas:	n/a
39	chr1:114521853-114521903	AG09319	gingival:	n/a
40	chr1:114521853-114521903	SK-N-SH	brain:	n/a
41	chr1:114521853-114521903	NB4	blood:	n/a
42	chr1:114521853-114521903	U87	brain:	n/a
43	chr1:114521853-114521903	HUVEC	blood vessel:	n/a
44	chr1:114521853-114521903	HCM	heart:	n/a
45	chr1:114521853-114521903	GM06990	blood:	n/a
46	chr1:114521853-114521903	SKMC	muscle:	n/a
47	chr1:114521853-114521903	HL-60	blood:	n/a
48	chr1:114521853-114521903	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:114521853-114521903	ECC-1	luminal epithelium:	n/a
50	chr1:114521853-114521903	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:114447582..114448152-chr1:114521127..114521969,2	K562	blood:
2	chr1:114519974..114522024-chr16:67185216..67187500,2	MCF-7	breast:
3	chr1:114520900..114522044-chr1:115213836..115214876,3	MCF-7	breast:
4	chr1:114519675..114522268-chr16:67207435..67209406,2	MCF-7	breast:
5	chr1:114520876..114522533-chr16:67188885..67190007,9	MCF-7	breast:
6	chr1:114520300..114522001-chr1:115209558..115212394,2	MCF-7	breast:
7	chr1:114521141..114522012-chr1:114575822..114576619,5	MCF-7	breast:
8	chr1:114521206..114522050-chr1:114877664..114878714,3	MCF-7	breast:
9	chr1:114520287..114523233-chr1:115052633..115055496,3	MCF-7	breast:
10	chr1:114521424..114521998-chr1:114825146..114826036,3	K562	blood:

Variant related genes	Relation type
OLFML3	TF binding region
OLFML3	CpG island
ENSG00000197323	Chromatin interaction
ENSG00000140939	Chromatin interaction
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction
ENSG00000102871	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1000528	0.87[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2147079	0.80[EUR][1000 genomes]
rs2476598	0.87[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs3811018	0.87[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4381184	0.82[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6658209	0.86[EUR][1000 genomes]
rs7522987	1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7545038	0.83[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7551215	0.82[EUR][1000 genomes]
rs7554371	0.86[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6702833	OLFML3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114516200-114522000	Weak transcription	Right Ventricle	heart
2	chr1:114516200-114524600	Weak transcription	Small Intestine	intestine
3	chr1:114517400-114522400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:114517400-114522400	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:114517600-114523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:114518000-114524800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:114518200-114522600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:114518400-114523000	Weak transcription	Thymus	Thymus
9	chr1:114518400-114525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:114518600-114525200	Weak transcription	Dnd41	blood
11	chr1:114518800-114525200	Weak transcription	GM12878-XiMat	blood
12	chr1:114518800-114525800	Weak transcription	Esophagus	oesophagus
13	chr1:114519000-114525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:114519800-114522000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:114519800-114522200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:114519800-114527000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:114520000-114522400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:114521000-114522200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:114521000-114522400	Enhancers	Fetal Heart	heart
20	chr1:114521000-114523200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:114521200-114522000	Enhancers	Stomach Mucosa	stomach
22	chr1:114521200-114522200	Enhancers	Fetal Thymus	thymus
23	chr1:114521200-114522600	Weak transcription	Primary T cells from cord blood	blood
24	chr1:114521400-114522000	Enhancers	Liver	Liver
25	chr1:114521400-114522200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:114521400-114523200	Flanking Active TSS	Osteobl	bone
27	chr1:114521600-114522000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:114521600-114522000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:114521600-114522000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:114521600-114522000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:114521600-114522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:114521600-114522000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:114521600-114522000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:114521600-114522000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:114521600-114522000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:114521600-114522000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:114521600-114522000	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:114521600-114522000	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr1:114521600-114522000	Enhancers	Placenta	Placenta
40	chr1:114521600-114522000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:114521600-114522000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr1:114521600-114522000	Flanking Active TSS	A549	lung
43	chr1:114521600-114522000	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr1:114521600-114522000	Flanking Active TSS	HSMM	muscle
45	chr1:114521600-114522000	Flanking Active TSS	HUVEC	blood vessel
46	chr1:114521600-114522000	Enhancers	K562	blood
47	chr1:114521600-114522200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:114521600-114522200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:114521600-114522200	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:114521600-114522200	Enhancers	Cortex derived primary cultured neurospheres	brain

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