Variant report

Variant	nsv511167
Chromosome Location	chr2:180056341-180076733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:180058459-180058657	HepG2	liver:	n/a	n/a
2	CBX3	chr2:180066654-180066871	HCT-116	colon:	n/a	n/a
3	CEBPB	chr2:180058459-180058796	HepG2	liver:	n/a	n/a
4	CEBPZ	chr2:180066713-180066874	HepG2	liver:	n/a	n/a
5	CHD1	chr2:180059593-180059605	GM12878	blood:	n/a	n/a
6	CTCF	chr2:180058560-180058710	MCF-7	breast:	n/a	n/a
7	CTCF	chr2:180058480-180058630	GM12872	blood:	n/a	n/a
8	CTCF	chr2:180072260-180072410	A549	lung:	n/a	n/a
9	CTCF	chr2:180058560-180058710	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr2:180058500-180058650	HepG2	liver:	n/a	n/a
11	CTCF	chr2:180058530-180058725	HepG2	liver:	n/a	n/a
12	CTCF	chr2:180058570-180058665	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr2:180058522-180058659	K562	blood:	n/a	n/a
14	CTCF	chr2:180058588-180058629	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:180058560-180058710	HepG2	liver:	n/a	n/a
16	CTCF	chr2:180058400-180058550	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:180058559-180058654	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:180058560-180058710	HEK293	kidney:	n/a	n/a
19	CTCF	chr2:180058540-180058690	RPTEC	kidney:	n/a	n/a
20	CTCF	chr2:180058520-180058670	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr2:180058585-180058620	HepG2	liver:	n/a	n/a
22	CTCF	chr2:180058580-180058730	A549	lung:	n/a	n/a
23	CTCF	chr2:180058580-180058730	GM12873	blood:	n/a	n/a
24	FOXA1	chr2:180076112-180076449	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:180069371-180069582	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:180075949-180076475	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:180076121-180076453	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:180075978-180076532	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:180060873-180061229	HepG2	liver:	n/a	n/a
30	FOXA2	chr2:180060967-180061260	A549	lung:	n/a	n/a
31	FOXA2	chr2:180076063-180076445	HepG2	liver:	n/a	n/a
32	FOXA2	chr2:180060864-180061393	A549	lung:	n/a	n/a
33	GATA2	chr2:180067592-180067896	HUVEC	blood vessel:	n/a	n/a
34	HNF4A	chr2:180076130-180076359	HepG2	liver:	n/a	n/a
35	KAP1	chr2:180066691-180067420	HEK293	kidney:	n/a	n/a
36	KAP1	chr2:180066700-180067005	U2OS	brain:	n/a	n/a
37	MAFF	chr2:180058575-180058931	HepG2	liver:	n/a	chr2:180058732-180058750
38	MAFF	chr2:180058731-180058733	K562	blood:	n/a	n/a
39	MAFK	chr2:180058661-180058769	K562	blood:	n/a	chr2:180058734-180058749
40	MAFK	chr2:180058568-180058901	HepG2	liver:	n/a	chr2:180058734-180058749
41	MAFK	chr2:180073698-180073991	HepG2	liver:	n/a	n/a
42	MAFK	chr2:180058566-180058910	HepG2	liver:	n/a	chr2:180058734-180058749
43	MAZ	chr2:180066718-180066903	HepG2	liver:	n/a	n/a
44	MYC	chr2:180058587-180058704	MCF10A-Er-Src	breast:	n/a	n/a
45	NFIC	chr2:180071820-180072183	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr2:180071362-180071562	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:180060786-180060997	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:180060713-180061373	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:180060820-180060866	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:180071582-180071586	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
2	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
3	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
4	chr2:180039372..180041323-chr2:180056705..180058266,2	MCF-7	breast:
5	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:

No data

Variant related genes	Relation type
SESTD1	TF binding region

Extended variants
information (count: 785 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12693178	chr2:180056341-180056342	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1844758	chr2:180056347-180056348	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148286203	chr2:180056350-180056351	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10175456	chr2:180056351-180056352	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367811321	chr2:180056424-180056425	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559428560	chr2:180056433-180056434	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117511352	chr2:180056437-180056438	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201260478	chr2:180056465-180056466	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141412189	chr2:180056466-180056467	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376947185	chr2:180056490-180056491	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537352158	chr2:180056508-180056509	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371326907	chr2:180056534-180056535	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs61754495	chr2:180056547-180056548	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567318293	chr2:180056551-180056552	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559354631	chr2:180056561-180056562	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536677838	chr2:180056617-180056618	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553174869	chr2:180056691-180056692	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573301615	chr2:180056693-180056694	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534487655	chr2:180056724-180056725	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184458771	chr2:180056741-180056742	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577966643	chr2:180056852-180056853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543728564	chr2:180056934-180056935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563623700	chr2:180056946-180056947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375070293	chr2:180056990-180056991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150834966	chr2:180057018-180057019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559151560	chr2:180057035-180057036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114930042	chr2:180057043-180057044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551637677	chr2:180057094-180057095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189484068	chr2:180057130-180057131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531051480	chr2:180057138-180057139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550841004	chr2:180057154-180057155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10497535	chr2:180057207-180057208	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536217295	chr2:180057217-180057218	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546991330	chr2:180057246-180057247	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77916674	chr2:180057260-180057261	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs181830915	chr2:180057312-180057313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559132416	chr2:180057316-180057317	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577911017	chr2:180057333-180057334	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143927916	chr2:180057346-180057347	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs151009367	chr2:180057390-180057391	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs557279593	chr2:180057421-180057422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77085942	chr2:180057449-180057450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147291454	chr2:180057520-180057521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559305274	chr2:180057537-180057538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572810907	chr2:180057547-180057548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545078178	chr2:180057578-180057579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140937039	chr2:180057626-180057627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185981561	chr2:180057636-180057637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572301116	chr2:180057638-180057639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188835333	chr2:180057667-180057668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180015000-180060600	Weak transcription	Lung	lung
4	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
5	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
10	chr2:180041200-180058800	Weak transcription	Ovary	ovary
11	chr2:180043600-180058800	Weak transcription	Gastric	stomach
12	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:180052200-180056400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:180052600-180056400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:180053200-180056800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:180055000-180056400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:180055000-180057200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:180055200-180056800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:180055200-180057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:180055200-180058800	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
25	chr2:180055400-180056400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:180055600-180056400	Strong transcription	Primary B cells from cord blood	blood
27	chr2:180055800-180056400	ZNF genes & repeats	Fetal Muscle Leg	muscle
28	chr2:180055800-180057000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr2:180055800-180057200	Enhancers	HepG2	liver
30	chr2:180056000-180058400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:180056200-180056400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:180056200-180056400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:180056200-180057000	Weak transcription	Brain Anterior Caudate	brain
34	chr2:180056200-180058400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:180056200-180058600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:180056200-180058800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:180056400-180056600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:180056400-180056800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:180056400-180058200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:180056400-180058400	Weak transcription	Primary B cells from cord blood	blood
43	chr2:180056400-180059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:180056800-180057000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:180057000-180059000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:180057200-180057400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:180057200-180058200	Enhancers	Colon Smooth Muscle	Colon
49	chr2:180057200-180058800	Weak transcription	HepG2	liver
50	chr2:180057200-180060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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