Variant report

Variant	esv989936
Chromosome Location	chr2:180061191-180081622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 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	CTCF	chr2:180080820-180080970	HepG2	liver:	n/a	n/a
4	CTCF	chr2:180077394-180077462	Fibrobl	skin:	n/a	n/a
5	CTCF	chr2:180080759-180080864	Medullo	brain:	n/a	n/a
6	CTCF	chr2:180072260-180072410	A549	lung:	n/a	n/a
7	FOXA1	chr2:180075949-180076475	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:180079386-180079711	A549	lung:	n/a	n/a
9	FOXA1	chr2:180060873-180061229	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:180075978-180076532	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:180076112-180076449	HepG2	liver:	n/a	n/a
12	FOXA1	chr2:180076121-180076453	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:180069371-180069582	HepG2	liver:	n/a	n/a
14	FOXA2	chr2:180076063-180076445	HepG2	liver:	n/a	n/a
15	FOXA2	chr2:180060864-180061393	A549	lung:	n/a	n/a
16	FOXA2	chr2:180060967-180061260	A549	lung:	n/a	n/a
17	GATA2	chr2:180067592-180067896	HUVEC	blood vessel:	n/a	n/a
18	HNF4A	chr2:180076130-180076359	HepG2	liver:	n/a	n/a
19	KAP1	chr2:180066691-180067420	HEK293	kidney:	n/a	n/a
20	KAP1	chr2:180066700-180067005	U2OS	brain:	n/a	n/a
21	MAFK	chr2:180073698-180073991	HepG2	liver:	n/a	n/a
22	MAZ	chr2:180066718-180066903	HepG2	liver:	n/a	n/a
23	NFIC	chr2:180071820-180072183	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr2:180060713-180061373	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:180071362-180071562	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:180071545-180071573	A549	lung:	n/a	n/a
27	POLR2A	chr2:180077119-180077156	Gliobla	brain:	n/a	n/a
28	POLR2A	chr2:180071582-180071586	A549	lung:	n/a	n/a
29	SETDB1	chr2:180066534-180067452	U2OS	brain:	n/a	n/a
30	SETDB1	chr2:180067811-180068155	U2OS	brain:	n/a	n/a
31	SETDB1	chr2:180071068-180071327	U2OS	brain:	n/a	n/a
32	SP1	chr2:180076087-180076548	HepG2	liver:	n/a	n/a
33	SPI1	chr2:180080760-180081011	GM12891	blood:	n/a	n/a
34	SPI1	chr2:180080703-180081002	GM12891	blood:	n/a	n/a
35	SPI1	chr2:180080775-180080977	K562	blood:	n/a	n/a
36	SPI1	chr2:180080759-180081026	GM12878	blood:	n/a	n/a
37	SPI1	chr2:180080774-180081010	K562	blood:	n/a	n/a
38	ZNF143	chr2:180066703-180066841	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
2	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
3	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
4	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:

No data

Variant related genes	Relation type
SESTD1	TF binding region

Extended variants
information (count: 730 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563207770	chr2:180061192-180061193	Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191129715	chr2:180061256-180061257	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs549272008	chr2:180061311-180061312	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559891683	chr2:180061338-180061339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528710972	chr2:180061340-180061341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs184729673	chr2:180061343-180061344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571642805	chr2:180061345-180061346	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552615318	chr2:180061358-180061359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530780789	chr2:180061375-180061376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550976857	chr2:180061384-180061385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566134220	chr2:180061386-180061387	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536739773	chr2:180061389-180061390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs573056711	chr2:180061400-180061401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553238137	chr2:180061413-180061414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111404973	chr2:180061427-180061428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60006637	chr2:180061440-180061441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534845282	chr2:180061594-180061595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558047646	chr2:180061595-180061596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578013588	chr2:180061604-180061605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543393827	chr2:180061606-180061607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112844796	chr2:180061612-180061613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556927969	chr2:180061619-180061620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573597918	chr2:180061625-180061626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142157247	chr2:180061626-180061627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559213834	chr2:180061634-180061635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528646796	chr2:180061647-180061648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545213775	chr2:180061673-180061674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113542039	chr2:180061676-180061677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193235013	chr2:180061679-180061680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60656255	chr2:180061681-180061682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567646869	chr2:180061682-180061683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530067893	chr2:180061693-180061694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13383965	chr2:180061697-180061698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs566983208	chr2:180061701-180061702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534779669	chr2:180061722-180061723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150380311	chr2:180061765-180061766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185269554	chr2:180061806-180061807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369714910	chr2:180061807-180061808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571528748	chr2:180061824-180061825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537345011	chr2:180061834-180061835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557023163	chr2:180061868-180061869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190121336	chr2:180061870-180061871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181322873	chr2:180061871-180061872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552616418	chr2:180061877-180061878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374856171	chr2:180061900-180061901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572626150	chr2:180061906-180061907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577076045	chr2:180061933-180061934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565126215	chr2:180061946-180061947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57103880	chr2:180061963-180061964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184001042	chr2:180061966-180061967	Weak transcription	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
3	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:180059600-180063400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:180060200-180066800	Weak transcription	HepG2	liver
6	chr2:180060400-180061200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:180060600-180061200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:180060600-180061200	Enhancers	Lung	lung
9	chr2:180061000-180061200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:180062000-180062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:180065600-180068200	Weak transcription	Fetal Stomach	stomach
12	chr2:180066400-180067000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:180066800-180067600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr2:180066800-180067800	ZNF genes & repeats	HepG2	liver
15	chr2:180066800-180068400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr2:180067000-180068400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr2:180067000-180068600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:180067200-180068000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr2:180067200-180068200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:180067400-180068000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
24	chr2:180067400-180068400	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr2:180067400-180068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:180067600-180068000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:180067600-180068200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:180067600-180068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
31	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:180068200-180068400	Strong transcription	Fetal Stomach	stomach
36	chr2:180068400-180068600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:180068400-180068600	ZNF genes & repeats	Fetal Stomach	stomach
38	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach
43	chr2:180068800-180070800	Weak transcription	Fetal Intestine Small	intestine
44	chr2:180070000-180070200	Enhancers	Adipose Nuclei	Adipose
45	chr2:180070200-180071200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:180070600-180070800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:180070800-180071600	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr2:180071000-180071200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr2:180071200-180071600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:180071200-180071600	Enhancers	Adipose Nuclei	Adipose

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