Variant report

Variant	rs532002859
Chromosome Location	chr1:94311397-94311398
allele	C/T
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	chr1:94311225-94313897	PFSK-1	brain:	n/a	n/a
2	FOS	chr1:94311258-94312046	HUVEC	blood vessel:	n/a	chr1:94311558-94311569
3	RCOR1	chr1:94311279-94312347	Hela-S3	cervix:	n/a	n/a
4	KAP1	chr1:94311179-94312266	U2OS	brain:	n/a	n/a
5	BHLHE40	chr1:94311048-94311612	A549	lung:	n/a	n/a
6	JUN	chr1:94311096-94311662	HUVEC	blood vessel:	n/a	chr1:94311249-94311262
7	REST	chr1:94310836-94314061	H1-neurons	neurons:	n/a	chr1:94313411-94313429 chr1:94313382-94313392 chr1:94313624-94313638 chr1:94312132-94312145
8	FOSL2	chr1:94311069-94312191	SK-N-SH	brain:	n/a	n/a
9	TCF7L2	chr1:94311274-94313955	Hela-S3	cervix:	n/a	chr1:94312026-94312033 chr1:94311760-94311769
10	NFIC	chr1:94311007-94311481	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr1:94311075-94313288	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:94311090-94312025	A549	lung:	n/a	n/a
13	MAFF	chr1:94311206-94311651	HepG2	liver:	n/a	chr1:94311498-94311516
14	MYC	chr1:94311201-94312229	MCF10A-Er-Src	breast:	n/a	chr1:94312213-94312223
15	MAX	chr1:94311060-94313919	ECC-1	luminal epithelium:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
16	POLR2A	chr1:94311175-94312528	HL-60	blood:	n/a	n/a
17	JUND	chr1:94311110-94312455	K562	blood:	n/a	n/a
18	MAFK	chr1:94311132-94311682	IMR90	lung:	n/a	n/a
19	POLR2A	chr1:94311257-94313920	K562	blood:	n/a	n/a
20	FOS	chr1:94311347-94311727	MCF10A-Er-Src	breast:	n/a	chr1:94311558-94311569
21	EGR1	chr1:94311264-94312524	HCT-116	colon:	n/a	chr1:94312278-94312287 chr1:94312203-94312213 chr1:94312277-94312290 chr1:94312274-94312288 chr1:94311962-94311972 chr1:94312278-94312288 chr1:94312277-94312290 chr1:94312278-94312288 chr1:94312278-94312289 chr1:94312276-94312290 chr1:94312277-94312290 chr1:94312279-94312288 chr1:94312278-94312289
22	POLR2A	chr1:94311092-94313903	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:94311363-94313868	Hela-S3	cervix:	n/a	n/a
24	SETDB1	chr1:94311146-94311744	U2OS	brain:	n/a	n/a
25	POLR2A	chr1:94311042-94313877	ECC-1	luminal epithelium:	n/a	n/a
26	TEAD4	chr1:94311050-94311509	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr1:94311062-94311628	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr1:94311329-94312494	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:94311173-94311445	HepG2	liver:	n/a	n/a
30	MAX	chr1:94311211-94313920	NB4	blood:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
31	TEAD4	chr1:94311105-94311550	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr1:94311058-94311403	A549	lung:	n/a	n/a
33	RCOR1	chr1:94311012-94314184	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:94311069-94311771	A549	lung:	n/a	n/a
35	POLR2A	chr1:94311218-94313823	IMR90	lung:	n/a	n/a
36	HEY1	chr1:94311353-94312500	HepG2	liver:	n/a	chr1:94312190-94312205 chr1:94312315-94312330 chr1:94312135-94312150 chr1:94311900-94311915
37	POLR2A	chr1:94311089-94312421	HepG2	liver:	n/a	n/a
38	TBP	chr1:94311236-94312217	HepG2	liver:	n/a	n/a
39	MAZ	chr1:94311334-94313965	K562	blood:	n/a	chr1:94313560-94313569
40	MBD4	chr1:94311322-94312269	HepG2	liver:	n/a	n/a
41	TCF12	chr1:94311061-94314095	ECC-1	luminal epithelium:	n/a	chr1:94312315-94312325
42	POLR2A	chr1:94311139-94314016	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF143	chr1:94311145-94312040	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr1:94311200-94313871	HepG2	liver:	n/a	n/a
45	BHLHE40	chr1:94311132-94312396	HepG2	liver:	n/a	chr1:94311976-94311992
46	TCF12	chr1:94311018-94312482	A549	lung:	n/a	chr1:94312315-94312325
47	YY1	chr1:94311114-94311767	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr1:94310992-94314012	HUVEC	blood vessel:	n/a	n/a
49	MYC	chr1:94311161-94313889	Hela-S3	cervix:	n/a	chr1:94312213-94312223 chr1:94313560-94313569
50	MAX	chr1:94311153-94312518	HepG2	liver:	n/a	chr1:94312213-94312223

No.	Distal block	Cell Line	Cell type
1	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
2	chr1:93544000..93546020-chr1:94311349..94313397,2	MCF-7	breast:
3	chr1:94310847..94313357-chr1:94374431..94376609,2	K562	blood:
4	chr1:94311158..94313376-chr1:94883814..94886511,2	K562	blood:
5	chr1:93643262..93645748-chr1:94311384..94313517,2	K562	blood:
6	chr1:94311345..94312464-chr5:43483381..43484059,3	Hela-S3	cervix:
7	chr1:93643769..93645748-chr1:94311324..94312884,2	K562	blood:
8	chr1:94310839..94314732-chr1:94343365..94346802,6	MCF-7	breast:
9	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
10	chr1:94311309..94313221-chr1:94336029..94338174,3	K562	blood:
11	chr1:94310035..94314107-chr1:94336308..94338315,4	K562	blood:
12	chr1:93808883..93811348-chr1:94310727..94314254,3	K562	blood:
13	chr1:94310214..94315053-chr1:94342432..94346579,12	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-1	chr1:94311123-94311461	NONHSAT004544

Variant related genes	Relation type
MIR760	TF binding region
ENSG00000260464	TF binding region
BCAR3	TF binding region
ENSG00000143033	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000117528	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000122483	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
3	esv3438948	chr1:94311389-94313937	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 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	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
2	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:94303800-94311600	Weak transcription	Gastric	stomach
4	chr1:94307600-94311800	Weak transcription	Spleen	Spleen
5	chr1:94308400-94311600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:94309600-94311400	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:94309600-94311400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:94309600-94311400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:94309600-94311400	Enhancers	Placenta	Placenta
10	chr1:94309800-94311800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:94310000-94311400	Enhancers	Fetal Intestine Small	intestine
12	chr1:94310000-94311600	Enhancers	Fetal Heart	heart
13	chr1:94310200-94311400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:94310400-94311400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr1:94310400-94311600	Flanking Active TSS	Hela-S3	cervix
16	chr1:94310800-94311400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:94311000-94311400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:94311000-94311400	Enhancers	Liver	Liver
19	chr1:94311000-94311400	Enhancers	Left Ventricle	heart
20	chr1:94311000-94311400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:94311000-94311800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:94311000-94311800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:94311000-94311800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:94311000-94311800	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr1:94311000-94311800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr1:94311000-94311800	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr1:94311000-94311800	Flanking Active TSS	Dnd41	blood
29	chr1:94311000-94311800	Flanking Active TSS	NHLF	lung
30	chr1:94311000-94312400	Flanking Active TSS	HMEC	breast
31	chr1:94311200-94311400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:94311200-94311400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:94311200-94311400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94311200-94311400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:94311200-94311400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:94311200-94311400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr1:94311200-94311400	Enhancers	Primary T cells from cord blood	blood
38	chr1:94311200-94311400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:94311200-94311400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:94311200-94311400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:94311200-94311400	Flanking Active TSS	Colonic Mucosa	Colon
42	chr1:94311200-94311400	Flanking Active TSS	Fetal Brain Male	brain
43	chr1:94311200-94311400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr1:94311200-94311400	Enhancers	Fetal Thymus	thymus
45	chr1:94311200-94311400	Enhancers	Psoas Muscle	Psoas
46	chr1:94311200-94311400	Enhancers	Right Atrium	heart
47	chr1:94311200-94311400	Flanking Active TSS	Right Ventricle	heart
48	chr1:94311200-94311400	Flanking Active TSS	Thymus	Thymus
49	chr1:94311200-94311400	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr1:94311200-94311400	Flanking Active TSS	HSMM	muscle

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