Variant report

Variant	esv3408096
Chromosome Location	chr1:45260315-45263088
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:45262326-45262686	K562	blood:	n/a	n/a
2	CBX3	chr1:45262401-45262799	K562	blood:	n/a	n/a
3	CTCF	chr1:45260472-45260550	GM20000	blood:	n/a	n/a
4	FOS	chr1:45262357-45262756	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:45262346-45262766	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:45262356-45262752	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:45262390-45262754	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL1	chr1:45262406-45262644	K562	blood:	n/a	chr1:45262520-45262531
9	FOSL1	chr1:45262387-45262703	K562	blood:	n/a	chr1:45262520-45262531
10	FOSL2	chr1:45262381-45262754	HepG2	liver:	n/a	chr1:45262521-45262532
11	FOSL2	chr1:45262341-45262706	HepG2	liver:	n/a	chr1:45262521-45262532
12	FOSL2	chr1:45262393-45262804	A549	lung:	n/a	chr1:45262521-45262532
13	JUN	chr1:45262251-45262913	K562	blood:	n/a	n/a
14	JUN	chr1:45262475-45262518	K562	blood:	n/a	n/a
15	JUN	chr1:45262384-45262752	K562	blood:	n/a	n/a
16	JUND	chr1:45262455-45262617	HepG2	liver:	n/a	chr1:45262520-45262531
17	JUND	chr1:45262390-45262672	HepG2	liver:	n/a	chr1:45262520-45262531
18	JUND	chr1:45262265-45262719	HCT-116	colon:	n/a	chr1:45262520-45262531
19	JUND	chr1:45262355-45262743	K562	blood:	n/a	chr1:45262520-45262531
20	JUND	chr1:45262391-45262627	HepG2	liver:	n/a	chr1:45262520-45262531
21	KAP1	chr1:45262482-45262789	U2OS	brain:	n/a	n/a
22	KAP1	chr1:45262690-45262766	HEK293	kidney:	n/a	n/a
23	MAX	chr1:45262443-45262704	K562	blood:	n/a	n/a
24	MAX	chr1:45262542-45262614	Hela-S3	cervix:	n/a	n/a
25	MYC	chr1:45262514-45262753	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr1:45262554-45262754	MCF10A-Er-Src	breast:	n/a	n/a
27	SETDB1	chr1:45262339-45262917	U2OS	brain:	n/a	n/a
28	YY1	chr1:45260310-45260529	K562	blood:	n/a	n/a
29	ZBTB7A	chr1:45260326-45260489	K562	blood:	n/a	n/a
30	ZNF384	chr1:45260429-45260442	GM12878	blood:	n/a	n/a
31	ZNF384	chr1:45260267-45260574	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45258952..45260849-chr1:45465146..45466652,2	MCF-7	breast:
2	chr1:45257422..45260349-chr1:45347384..45350306,2	K562	blood:
3	chr1:45258217..45261101-chr1:45283716..45287157,8	MCF-7	breast:
4	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
5	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
6	chr1:45259473..45261876-chr1:45813673..45815846,2	K562	blood:
7	chr1:45259404..45261037-chr1:45271214..45273023,2	MCF-7	breast:
8	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
9	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
10	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
11	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
12	chr1:45259187..45261790-chr1:45263751..45267058,4	MCF-7	breast:
13	chr1:45257179..45261874-chr1:45476446..45479576,6	K562	blood:
14	chr1:45257627..45260973-chr1:45264526..45267678,5	MCF-7	breast:
15	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
16	chr1:45096458..45098139-chr1:45259020..45260661,2	K562	blood:
17	chr1:45194659..45196445-chr1:45258942..45260527,2	MCF-7	breast:
18	chr1:45257179..45260410-chr1:45476355..45479438,4	K562	blood:

No data

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000202444	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000222009	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000173846	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000187147	chromatin interactions
ENSG00000188396	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000117425	chromatin interactions
ENSG00000200913	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542273288	chr1:45260318-45260319	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs80131766	chr1:45260345-45260346	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs562244898	chr1:45260367-45260368	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs575602956	chr1:45260368-45260369	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs181534852	chr1:45260475-45260476	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs12562538	chr1:45260548-45260549	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs202101709	chr1:45260615-45260616	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs533456946	chr1:45260623-45260624	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs71500077	chr1:45260667-45260668	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs60975115	chr1:45260668-45260669	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs59556124	chr1:45260670-45260671	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs71040505	chr1:45260685-45260686	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs61216515	chr1:45260686-45260687	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs57528790	chr1:45260688-45260689	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs373617184	chr1:45260694-45260695	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs376059445	chr1:45260702-45260703	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs61157209	chr1:45260703-45260704	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs60412361	chr1:45260712-45260713	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs71040506	chr1:45260722-45260723	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs55946726	chr1:45260732-45260733	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs182866702	chr1:45260734-45260735	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs58951217	chr1:45260744-45260745	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs57699845	chr1:45260770-45260771	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs547314319	chr1:45260798-45260799	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs560442237	chr1:45260802-45260803	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs71500078	chr1:45260808-45260809	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs76860810	chr1:45260809-45260810	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs187938122	chr1:45260810-45260811	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs190729605	chr1:45260872-45260873	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs377048774	chr1:45260952-45260953	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs184172288	chr1:45260954-45260955	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs551497906	chr1:45261133-45261134	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs371445978	chr1:45261228-45261229	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs373300054	chr1:45261232-45261233	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs377329181	chr1:45261236-45261237	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs201721134	chr1:45261278-45261279	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs199941591	chr1:45261284-45261285	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs200865629	chr1:45261288-45261289	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs370654028	chr1:45261314-45261315	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs375427722	chr1:45261330-45261331	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs370380000	chr1:45261332-45261333	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs372709977	chr1:45261340-45261341	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs376957570	chr1:45261421-45261422	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs370902925	chr1:45261492-45261493	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs566515826	chr1:45261506-45261507	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs529495929	chr1:45261530-45261531	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs187846244	chr1:45261541-45261542	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs533563273	chr1:45261658-45261659	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs192371402	chr1:45261700-45261701	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs569391262	chr1:45261727-45261728	Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
3	chr1:45252400-45265600	Weak transcription	Gastric	stomach
4	chr1:45252600-45262200	Weak transcription	Placenta	Placenta
5	chr1:45252600-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:45256000-45264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:45256000-45264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:45256000-45265200	Weak transcription	NHEK	skin
9	chr1:45257400-45264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:45259400-45262400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:45259400-45264000	Weak transcription	HepG2	liver
14	chr1:45259400-45264200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:45259400-45264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:45259400-45264200	Weak transcription	HMEC	breast
17	chr1:45259400-45264400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:45259400-45264400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:45259400-45264600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:45259400-45264600	Weak transcription	Hela-S3	cervix
21	chr1:45259400-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:45259400-45265200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:45259600-45262200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:45259600-45264400	Weak transcription	A549	lung
26	chr1:45259600-45264600	Weak transcription	NH-A	brain
27	chr1:45259600-45264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:45259600-45264800	Weak transcription	Esophagus	oesophagus
29	chr1:45259600-45265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:45259600-45265200	Weak transcription	Osteobl	bone
31	chr1:45259800-45264200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:45259800-45265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:45260200-45260600	Enhancers	K562	blood
34	chr1:45260600-45264200	Weak transcription	K562	blood
35	chr1:45261200-45265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:45262200-45262600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:45262200-45262800	Enhancers	Placenta	Placenta
38	chr1:45262400-45262600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:45262400-45262800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:45262600-45264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:45262600-45264600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:45262600-45265000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:45262800-45264600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:45262800-45264800	Weak transcription	Placenta	Placenta

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