Variant report

Variant	rs1760796
Chromosome Location	chr1:154307664-154307665
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	CTCF	chr1:154307640-154307790	AoAF	blood vessel:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
2	CTCF	chr1:154307583-154307875	A549	lung:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
3	SMC3	chr1:154307490-154307909	Hela-S3	cervix:	n/a	chr1:154307719-154307733 chr1:154307726-154307733
4	CTCF	chr1:154307574-154307826	MCF-7	breast:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
5	RAD21	chr1:154307342-154307909	HepG2	liver:	n/a	chr1:154307719-154307733 chr1:154307715-154307734
6	ZNF143	chr1:154307554-154307891	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr1:154307471-154307841	K562	blood:	n/a	n/a
8	CTCF	chr1:154307640-154307790	SK-N-SH_RA	brain:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
9	MAX	chr1:154307468-154307907	A549	lung:	n/a	n/a
10	CTCF	chr1:154307640-154307790	HCT-116	colon:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
11	CTCF	chr1:154307595-154307857	Pancreas_OC	pancreas:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
12	RAD21	chr1:154307519-154307865	GM12878	blood:	n/a	chr1:154307719-154307733 chr1:154307715-154307734
13	CTCF	chr1:154307660-154307810	AoAF	blood vessel:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
14	CTCF	chr1:154307660-154307810	GM12874	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
15	CTCF	chr1:154307554-154307875	GM10266	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
16	CTCF	chr1:154307594-154307833	Fibrobl	skin:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
17	TBP	chr1:154306850-154307777	HepG2	liver:	n/a	n/a
18	CTCF	chr1:154307660-154307810	HBMEC	blood vessel:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
19	CTCF	chr1:154307660-154307810	BE2_C	brain:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
20	CTCF	chr1:154307660-154307810	GM12865	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
21	TBL1XR1	chr1:154307554-154307707	K562	blood:	n/a	n/a
22	CTCF	chr1:154307660-154307810	HMF	breast:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
23	FOS	chr1:154307661-154307793	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr1:154307660-154307810	HRE	kidney:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
25	CTCF	chr1:154307583-154307886	Medullo	brain:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
26	CTCF	chr1:154307584-154307853	Hela-S3	cervix:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
27	NFIC	chr1:154307440-154307834	HepG2	liver:	n/a	n/a
28	CTCF	chr1:154307572-154307840	GM12891	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
29	CHD2	chr1:154307550-154307735	K562	blood:	n/a	n/a
30	CTCF	chr1:154307427-154307844	T-47D	breast:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
31	EGR1	chr1:154307546-154307811	K562	blood:	n/a	n/a
32	MAX	chr1:154307505-154307744	GM12878	blood:	n/a	n/a
33	SMC3	chr1:154307514-154307927	GM12878	blood:	n/a	chr1:154307719-154307733 chr1:154307726-154307733
34	BRCA1	chr1:154307263-154307706	HepG2	liver:	n/a	n/a
35	CTCF	chr1:154307481-154307933	IMR90	lung:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
36	RUNX3	chr1:154307480-154307890	GM12878	blood:	n/a	n/a
37	CTCF	chr1:154307646-154307834	GM20000	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
38	HCFC1	chr1:154307604-154307768	K562	blood:	n/a	n/a
39	CTCF	chr1:154307490-154307922	K562	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
40	MAZ	chr1:154307548-154307836	K562	blood:	n/a	n/a
41	SRF	chr1:154307459-154307802	GM12878	blood:	n/a	n/a
42	MAX	chr1:154307485-154307701	HepG2	liver:	n/a	n/a
43	CTCF	chr1:154307620-154307770	HAc	cerebellar:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
44	RFX5	chr1:154307646-154307783	HepG2	liver:	n/a	n/a
45	HDAC2	chr1:154307488-154307972	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:154307660-154307810	NHLF	lung:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
47	MYC	chr1:154307442-154307803	NB4	blood:	n/a	n/a
48	CTCF	chr1:154307574-154307855	GM19240	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
49	CTCF	chr1:154307660-154307810	GM12873	blood:	n/a	chr1:154307723-154307732 chr1:154307718-154307734 chr1:154307720-154307730 chr1:154307717-154307735 chr1:154307712-154307733
50	SMC3	chr1:154307335-154308059	SK-N-SH	brain:	n/a	chr1:154307719-154307733 chr1:154307726-154307733

No.	Distal block	Cell Line	Cell type
1	chr1:154158329..154159389-chr1:154307310..154308142,3	MCF-7	breast:
2	chr1:154306397..154309276-chr1:154322045..154324098,3	MCF-7	breast:
3	chr1:154264672..154266840-chr1:154306843..154308967,2	MCF-7	breast:
4	chr1:154158245..154159342-chr1:154307445..154308150,3	K562	blood:
5	chr1:154296733..154298208-chr1:154306834..154309045,12	MCF-7	breast:
6	chr1:154307201..154309234-chr1:154310188..154312854,2	MCF-7	breast:
7	chr1:154293480..154294347-chr1:154307245..154307746,2	K562	blood:
8	chr1:154296862..154297663-chr1:154307293..154308165,3	MCF-7	breast:
9	chr1:154298706..154299255-chr1:154307489..154308085,2	MCF-7	breast:
10	chr1:154192531..154195371-chr1:154305230..154308167,3	MCF-7	breast:
11	chr1:154244424..154245328-chr1:154307214..154308215,5	K562	blood:
12	chr1:154298398..154299500-chr1:154306705..154308264,16	MCF-7	breast:
13	chr1:154298450..154299342-chr1:154307196..154308082,5	K562	blood:
14	chr1:154299231..154301355-chr1:154306527..154308310,2	K562	blood:
15	chr1:154153078..154156691-chr1:154305231..154310554,8	MCF-7	breast:
16	chr1:154307075..154308806-chr2:174828188..174830288,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-57P	TF binding region
ENSG00000172845	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000238365	Chromatin interaction
ENSG00000143595	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143575	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11809740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352333	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626035	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931299	0.90[EUR][1000 genomes]
rs2274988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297606	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2297607	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2481064	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483710	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483711	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2633438	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2988721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34640592	0.88[EUR][1000 genomes]
rs35362987	0.92[EUR][1000 genomes]
rs35387092	0.88[CEU][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs35463210	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35800693	0.92[EUR][1000 genomes]
rs3916566	0.95[CEU][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs56367957	0.90[EUR][1000 genomes]
rs61578738	0.91[EUR][1000 genomes]
rs6427560	0.95[CEU][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs6427561	0.90[EUR][1000 genomes]
rs749966	0.86[JPT][hapmap]
rs7547298	0.92[EUR][1000 genomes]
rs9787014	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154301000-154308400	Weak transcription	Fetal Kidney	kidney
2	chr1:154301400-154318400	Weak transcription	Small Intestine	intestine
3	chr1:154302200-154312200	Weak transcription	Gastric	stomach
4	chr1:154302200-154312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:154302400-154322400	Strong transcription	Dnd41	blood
7	chr1:154302400-154323200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:154302600-154309800	Weak transcription	Fetal Brain Male	brain
9	chr1:154302600-154314400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:154302600-154318200	Weak transcription	Fetal Heart	heart
11	chr1:154302600-154320800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:154302600-154322600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:154302600-154323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:154302800-154307800	Strong transcription	Brain Germinal Matrix	brain
15	chr1:154302800-154323000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:154303000-154313000	Weak transcription	Colonic Mucosa	Colon
17	chr1:154303000-154322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:154303000-154322600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:154303200-154312800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:154303200-154322200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:154303200-154322400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:154303200-154323400	Strong transcription	Fetal Brain Female	brain
23	chr1:154303200-154324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:154303400-154307800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:154303600-154308800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:154303800-154308800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:154304000-154322000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:154304200-154312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:154304400-154312800	Weak transcription	Esophagus	oesophagus
30	chr1:154304600-154309800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:154304800-154309800	Weak transcription	Right Ventricle	heart
32	chr1:154304800-154312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:154304800-154317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:154305400-154309600	Weak transcription	GM12878-XiMat	blood
35	chr1:154305400-154311600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:154305800-154309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:154305800-154322200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:154306000-154307800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:154306000-154309600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr1:154306000-154309800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:154306200-154308200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:154306200-154314200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:154306400-154307800	Enhancers	Liver	Liver
44	chr1:154306400-154307800	Genic enhancers	Colon Smooth Muscle	Colon
45	chr1:154306400-154307800	Strong transcription	Left Ventricle	heart
46	chr1:154306400-154307800	Genic enhancers	NHLF	lung
47	chr1:154306400-154308000	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr1:154306400-154308000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:154306400-154308200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:154306400-154308800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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