Variant report

Variant	esv14990
Chromosome Location	chr2:180060110-180083212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 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	chr2:180077394-180077462	Fibrobl	skin:	n/a	n/a
4	CTCF	chr2:180072260-180072410	A549	lung:	n/a	n/a
5	CTCF	chr2:180080759-180080864	Medullo	brain:	n/a	n/a
6	CTCF	chr2:180080820-180080970	HepG2	liver:	n/a	n/a
7	FOXA1	chr2:180069371-180069582	HepG2	liver:	n/a	n/a
8	FOXA1	chr2:180075949-180076475	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:180060873-180061229	HepG2	liver:	n/a	n/a
10	FOXA1	chr2:180076112-180076449	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:180076121-180076453	HepG2	liver:	n/a	n/a
12	FOXA1	chr2:180075978-180076532	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:180079386-180079711	A549	lung:	n/a	n/a
14	FOXA2	chr2:180060864-180061393	A549	lung:	n/a	n/a
15	FOXA2	chr2:180060967-180061260	A549	lung:	n/a	n/a
16	FOXA2	chr2:180076063-180076445	HepG2	liver:	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	chr2:180066700-180067005	U2OS	brain:	n/a	n/a
20	KAP1	chr2:180066691-180067420	HEK293	kidney:	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	chr2:180071582-180071586	A549	lung:	n/a	n/a
25	POLR2A	chr2:180060786-180060997	MCF-7	breast:	n/a	n/a
26	POLR2A	chr2:180071362-180071562	HepG2	liver:	n/a	n/a
27	POLR2A	chr2:180060820-180060866	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:180071545-180071573	A549	lung:	n/a	n/a
29	POLR2A	chr2:180077119-180077156	Gliobla	brain:	n/a	n/a
30	POLR2A	chr2:180060713-180061373	H1-hESC	embryonic stem cell:	n/a	n/a
31	SETDB1	chr2:180067811-180068155	U2OS	brain:	n/a	n/a
32	SETDB1	chr2:180066534-180067452	U2OS	brain:	n/a	n/a
33	SETDB1	chr2:180071068-180071327	U2OS	brain:	n/a	n/a
34	SP1	chr2:180076087-180076548	HepG2	liver:	n/a	n/a
35	SPI1	chr2:180080759-180081026	GM12878	blood:	n/a	n/a
36	SPI1	chr2:180080703-180081002	GM12891	blood:	n/a	n/a
37	SPI1	chr2:180080774-180081010	K562	blood:	n/a	n/a
38	SPI1	chr2:180059857-180060216	HL-60	blood:	n/a	n/a
39	SPI1	chr2:180080760-180081011	GM12891	blood:	n/a	n/a
40	SPI1	chr2:180080775-180080977	K562	blood:	n/a	n/a
41	TAF1	chr2:180060865-180061100	H1-hESC	embryonic stem cell:	n/a	n/a
42	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	chr2:180068360..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:
4	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:

No data

Variant related genes	Relation type
SESTD1	TF binding region

Extended variants
information (count: 866 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190284935	chr2:180060123-180060124	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148092417	chr2:180060149-180060150	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs535763937	chr2:180060150-180060151	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs556069236	chr2:180060168-180060169	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143895508	chr2:180060176-180060177	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs376259242	chr2:180060218-180060219	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147274938	chr2:180060240-180060241	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139189982	chr2:180060259-180060260	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181489962	chr2:180060276-180060277	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143202023	chr2:180060283-180060284	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375390417	chr2:180060294-180060295	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545549489	chr2:180060298-180060299	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574662052	chr2:180060310-180060311	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556901607	chr2:180060326-180060327	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150887487	chr2:180060332-180060333	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562044667	chr2:180060375-180060376	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79590841	chr2:180060395-180060396	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547433143	chr2:180060419-180060420	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576792700	chr2:180060459-180060460	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185285954	chr2:180060463-180060464	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139399827	chr2:180060474-180060475	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533068837	chr2:180060475-180060476	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549943150	chr2:180060482-180060483	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570145821	chr2:180060561-180060562	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536070889	chr2:180060584-180060585	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549394443	chr2:180060587-180060588	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75688487	chr2:180060589-180060590	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79956203	chr2:180060590-180060591	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150067839	chr2:180060616-180060617	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534682932	chr2:180060627-180060628	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28763731	chr2:180060658-180060659	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs372418045	chr2:180060674-180060675	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528174967	chr2:180060676-180060677	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369119946	chr2:180060690-180060691	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189718215	chr2:180060691-180060692	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181203570	chr2:180060706-180060707	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113784483	chr2:180060707-180060708	Active TSS ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370894082	chr2:180060725-180060726	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537141181	chr2:180060730-180060731	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs185391422	chr2:180060825-180060826	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144425252	chr2:180060842-180060843	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371779990	chr2:180060856-180060857	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542043608	chr2:180060858-180060859	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs189707161	chr2:180060859-180060860	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181946549	chr2:180060863-180060864	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs572307979	chr2:180060866-180060867	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs28838656	chr2:180060867-180060868	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs564062050	chr2:180060913-180060914	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186289788	chr2:180060925-180060926	Active TSS ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs561336200	chr2:180060930-180060931	Active TSS 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:91 , 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	chr2:180058800-180060200	Enhancers	HepG2	liver
10	chr2:180058800-180060400	Enhancers	Brain Hippocampus Middle	brain
11	chr2:180059200-180060400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:180059400-180060400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:180059600-180060800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr2:180059600-180063400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:180059800-180060800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr2:180060000-180060200	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr2:180060000-180060400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:180060000-180060400	Enhancers	Brain Anterior Caudate	brain
19	chr2:180060200-180066800	Weak transcription	HepG2	liver
20	chr2:180060400-180060600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:180060400-180060800	Active TSS	Brain Anterior Caudate	brain
22	chr2:180060400-180061200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:180060600-180061000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:180060600-180061000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr2:180060600-180061000	Enhancers	Right Ventricle	heart
26	chr2:180060600-180061200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:180060600-180061200	Enhancers	Lung	lung
28	chr2:180061000-180061200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:180062000-180062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:180065600-180068200	Weak transcription	Fetal Stomach	stomach
31	chr2:180066400-180067000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:180066800-180067600	ZNF genes & repeats	Fetal Kidney	kidney
33	chr2:180066800-180067800	ZNF genes & repeats	HepG2	liver
34	chr2:180066800-180068400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr2:180067000-180068400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr2:180067000-180068600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:180067200-180068000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr2:180067200-180068200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:180067400-180068000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr2:180067400-180068400	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr2:180067400-180068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:180067600-180068000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:180067600-180068200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:180067600-180068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
49	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
50	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine

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