Variant report

Variant	rs17095385
Chromosome Location	chr1:74933592-74933593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:74933483-74933825	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:74933587-74933713	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:74933543-74933820	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr1:74933532-74933751	MCF10A-Er-Src	breast:	n/a	chr1:74933692-74933701
5	FOS	chr1:74933499-74933805	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:74933550-74933783	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr1:74933478-74933842	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr1:74933521-74933814	MCF10A-Er-Src	breast:	n/a	chr1:74933692-74933701
9	STAT3	chr1:74933549-74933792	MCF10A-Er-Src	breast:	n/a	chr1:74933653-74933661
10	CEBPB	chr1:74933511-74933815	IMR90	lung:	n/a	n/a
11	STAT3	chr1:74933525-74933758	MCF10A-Er-Src	breast:	n/a	chr1:74933653-74933661
12	FOS	chr1:74933385-74933870	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr1:74933490-74933834	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr1:74933510-74933831	HepG2	liver:	n/a	n/a
15	STAT3	chr1:74933558-74933784	MCF10A-Er-Src	breast:	n/a	chr1:74933653-74933661
16	FOS	chr1:74933442-74933825	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:74933557-74933607	SK-N-SH	brain:	n/a
2	chr1:74933557-74933607	GM19239	blood:	n/a
3	chr1:74933557-74933607	NHBE	bronchial:	n/a
4	chr1:74933557-74933607	NT2-D1	testis:	n/a
5	chr1:74933557-74933607	AG09309	skin:	n/a
6	chr1:74933557-74933607	HMEC	breast:	n/a
7	chr1:74933557-74933607	GM12892	blood:	n/a
8	chr1:74933557-74933607	U87	brain:	n/a
9	chr1:74933557-74933607	HCM	heart:	n/a
10	chr1:74933557-74933607	HCPEpiC	choroid plexus:	n/a
11	chr1:74933557-74933607	HIPEpiC	eye:	n/a
12	chr1:74933557-74933607	MCF10A-Er-Src	breast:	n/a
13	chr1:74933557-74933607	HepG2	liver:	n/a
14	chr1:74933557-74933607	MCF-7	breast:	n/a
15	chr1:74933557-74933607	HPAEpiC	pulmonary alveolar:	n/a
16	chr1:74933557-74933607	IMR90	lung:	fetal
17	chr1:74933557-74933607	Hepatocyte	liver:	n/a
18	chr1:74933557-74933607	HL-60	blood:	n/a
19	chr1:74933557-74933607	HCT-116	colon:	n/a
20	chr1:74933557-74933607	ovcar-3	ovarian:	n/a
21	chr1:74933557-74933607	HUVEC	blood vessel:	n/a
22	chr1:74933557-74933607	H1-hESC	embryonic stem cell:	embryo
23	chr1:74933557-74933607	GM12878	blood:	n/a
24	chr1:74933557-74933607	AoSMC	blood vessel:	n/a
25	chr1:74933557-74933607	HAEpiC	amniotic membrane:	n/a
26	chr1:74933557-74933607	PrEC	prostate:	n/a
27	chr1:74933557-74933607	RPTEC	kidney:	n/a
28	chr1:74933557-74933607	A549	lung:	n/a
29	chr1:74933557-74933607	HRE	kidney:	n/a
30	chr1:74933557-74933607	AG04449	skin:	fetal
31	chr1:74933557-74933607	HNPCEpiC	eye:	n/a
32	chr1:74933557-74933607	NH-A	brain:	n/a
33	chr1:74933557-74933607	SAEC	small airway:	n/a
34	chr1:74933557-74933607	Caco-2	colon:	n/a
35	chr1:74933557-74933607	LNCaP	prostate:	n/a
36	chr1:74933557-74933607	PFSK-1	brain:	n/a
37	chr1:74933557-74933607	AG04450	lung:	fetal
38	chr1:74933557-74933607	HEEpiC	esophagus:	n/a
39	chr1:74933557-74933607	NB4	blood:	n/a
40	chr1:74933557-74933607	HRCEpiC	kidney:	n/a
41	chr1:74933557-74933607	T-47D	breast:	n/a
42	chr1:74933557-74933607	SK-N-MC	brain:	n/a
43	chr1:74933557-74933607	K562	blood:	n/a
44	chr1:74933557-74933607	HCF	heart:	n/a
45	chr1:74933557-74933607	PANC-1	pancreas:	n/a
46	chr1:74933557-74933607	AG10803	skin:	n/a
47	chr1:74933557-74933607	AG09319	gingival:	n/a
48	chr1:74933557-74933607	Hela-S3	cervix:	n/a
49	chr1:74933557-74933607	Jurkat	blood:	n/a
50	chr1:74933557-74933607	GM06990	blood:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-1	chr1:74933443-74934233	NONHSAT003960
2	lnc-FPGT-1	chr1:74933443-74934233	NONHSAT003961
3	lnc-FPGT-1	chr1:74933443-74934233	NONHSAT003962
4	lnc-FPGT-1	chr1:74933443-74934233	NONHSAT003963

No data

Variant related genes	Relation type
ENSG00000233894	TF binding region
ENSG00000233894	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10493542	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10493543	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17095376	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17095380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17095449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095463	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17095465	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095473	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095482	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17095483	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1998770	0.90[ASN][1000 genomes]
rs1998771	0.90[ASN][1000 genomes]
rs34871290	0.90[ASN][1000 genomes]
rs3737564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3737566	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3819944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4372202	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs45519034	1.00[ASN][1000 genomes]
rs45545234	0.90[ASN][1000 genomes]
rs45587936	0.85[ASN][1000 genomes]
rs45609532	0.85[ASN][1000 genomes]
rs61140856	1.00[ASN][1000 genomes]
rs6701139	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6704493	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs72969868	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72971710	1.00[ASN][1000 genomes]
rs72977490	0.90[ASN][1000 genomes]
rs7416565	0.85[ASN][1000 genomes]
rs9326113	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9326114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9727476	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9729683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74929200-74936400	Weak transcription	Left Ventricle	heart
2	chr1:74930400-74935400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:74930400-74936600	Weak transcription	Right Atrium	heart
4	chr1:74931400-74933800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:74931400-74936400	Weak transcription	Right Ventricle	heart
6	chr1:74932400-74934800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:74932400-74936600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:74932400-74953600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:74932600-74933600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:74932800-74934200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:74932800-74936000	Enhancers	Fetal Heart	heart
12	chr1:74933000-74934000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:74933200-74934000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:74933400-74934800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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