Variant report

Variant	nsv820056
Chromosome Location	chr2:180058961-180070761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:180066654-180066871	HCT-116	colon:	n/a	n/a
2	CEBPZ	chr2:180066713-180066874	HepG2	liver:	n/a	n/a
3	CHD1	chr2:180059593-180059605	GM12878	blood:	n/a	n/a
4	FOXA1	chr2:180069371-180069582	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:180060873-180061229	HepG2	liver:	n/a	n/a
6	FOXA2	chr2:180060967-180061260	A549	lung:	n/a	n/a
7	FOXA2	chr2:180060864-180061393	A549	lung:	n/a	n/a
8	GATA2	chr2:180067592-180067896	HUVEC	blood vessel:	n/a	n/a
9	KAP1	chr2:180066691-180067420	HEK293	kidney:	n/a	n/a
10	KAP1	chr2:180066700-180067005	U2OS	brain:	n/a	n/a
11	MAZ	chr2:180066718-180066903	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:180060786-180060997	MCF-7	breast:	n/a	n/a
13	POLR2A	chr2:180060713-180061373	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:180060820-180060866	MCF-7	breast:	n/a	n/a
15	SETDB1	chr2:180066534-180067452	U2OS	brain:	n/a	n/a
16	SETDB1	chr2:180067811-180068155	U2OS	brain:	n/a	n/a
17	SPI1	chr2:180059857-180060216	HL-60	blood:	n/a	n/a
18	TAF1	chr2:180060865-180061100	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF143	chr2:180066703-180066841	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 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	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:

No data

Variant related genes	Relation type
SESTD1	TF binding region

Extended variants
information (count: 534 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185241963	chr2:180058968-180058969	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191136906	chr2:180059014-180059015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547594058	chr2:180059028-180059029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146475451	chr2:180059030-180059031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562069928	chr2:180059070-180059071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183277730	chr2:180059127-180059128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141008202	chr2:180059143-180059144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187557595	chr2:180059159-180059160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536564286	chr2:180059175-180059176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550113218	chr2:180059188-180059189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535704513	chr2:180059226-180059227	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116557002	chr2:180059300-180059301	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568508348	chr2:180059319-180059320	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75956719	chr2:180059323-180059324	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116340629	chr2:180059330-180059331	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192820194	chr2:180059345-180059346	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572262382	chr2:180059352-180059353	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183284923	chr2:180059401-180059402	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577573497	chr2:180059402-180059403	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188160755	chr2:180059403-180059404	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192895034	chr2:180059444-180059445	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576484286	chr2:180059470-180059471	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144824875	chr2:180059486-180059487	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562182316	chr2:180059516-180059517	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76529014	chr2:180059539-180059540	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183745528	chr2:180059567-180059568	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186582763	chr2:180059570-180059571	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532218573	chr2:180059589-180059590	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569423000	chr2:180059595-180059596	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs552029287	chr2:180059612-180059613	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568844205	chr2:180059625-180059626	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13382185	chr2:180059627-180059628	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs138638083	chr2:180059654-180059655	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114549079	chr2:180059687-180059688	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75805674	chr2:180059711-180059712	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553872584	chr2:180059715-180059716	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577510316	chr2:180059738-180059739	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540067836	chr2:180059739-180059740	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556881556	chr2:180059750-180059751	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576828758	chr2:180059767-180059768	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192600425	chr2:180059780-180059781	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555486608	chr2:180059812-180059813	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572441635	chr2:180059838-180059839	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574649605	chr2:180059845-180059846	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191474	chr2:180059856-180059857	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10164814	chr2:180059865-180059866	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs564266668	chr2:180059870-180059871	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553021725	chr2:180059871-180059872	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532158280	chr2:180059880-180059881	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs545611073	chr2:180059883-180059884	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
2	chr2:180015000-180060600	Weak transcription	Lung	lung
3	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
7	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:180056400-180059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:180057000-180059000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:180057200-180060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:180058200-180059400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:180058400-180059000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:180058400-180060000	Enhancers	Adipose Nuclei	Adipose
16	chr2:180058600-180059600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:180058800-180059000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:180058800-180059000	Enhancers	Brain Anterior Caudate	brain
19	chr2:180058800-180059000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:180058800-180059400	Enhancers	Left Ventricle	heart
21	chr2:180058800-180059400	Enhancers	Right Atrium	heart
22	chr2:180058800-180059800	Enhancers	Gastric	stomach
23	chr2:180058800-180059800	Enhancers	Ovary	ovary
24	chr2:180058800-180060200	Enhancers	HepG2	liver
25	chr2:180058800-180060400	Enhancers	Brain Hippocampus Middle	brain
26	chr2:180059000-180059600	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:180059000-180060000	Weak transcription	Primary B cells from cord blood	blood
28	chr2:180059000-180060000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:180059200-180060400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:180059400-180060400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:180059600-180060000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr2:180059600-180060800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr2:180059600-180063400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:180059800-180060800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr2:180060000-180060200	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr2:180060000-180060400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:180060000-180060400	Enhancers	Brain Anterior Caudate	brain
38	chr2:180060200-180066800	Weak transcription	HepG2	liver
39	chr2:180060400-180060600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:180060400-180060800	Active TSS	Brain Anterior Caudate	brain
41	chr2:180060400-180061200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr2:180060600-180061000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:180060600-180061000	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr2:180060600-180061000	Enhancers	Right Ventricle	heart
45	chr2:180060600-180061200	Active TSS	H9 Cell Line	embryonic stem cell
46	chr2:180060600-180061200	Enhancers	Lung	lung
47	chr2:180061000-180061200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:180062000-180062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:180065600-180068200	Weak transcription	Fetal Stomach	stomach
50	chr2:180066400-180067000	Weak transcription	Primary hematopoietic stem cells	blood

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