Variant report

Variant	esv2760587
Chromosome Location	chr2:180409470-180430552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:180424909-180425355	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:180414903-180415937	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:180422657-180423509	HepG2	liver:	n/a	n/a
4	ATF2	chr2:180414802-180415273	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr2:180414915-180415345	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:180415684-180415899	A549	lung:	n/a	chr2:180415790-180415807
7	CEBPB	chr2:180415621-180415974	HepG2	liver:	n/a	chr2:180415790-180415807
8	CEBPB	chr2:180415621-180415943	IMR90	lung:	n/a	chr2:180415790-180415807
9	CEBPB	chr2:180414915-180415363	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:180409119-180409481	HepG2	liver:	n/a	chr2:180409300-180409311 chr2:180409299-180409312 chr2:180409299-180409310 chr2:180409301-180409310
11	CEBPB	chr2:180415654-180415891	H1-hESC	embryonic stem cell:	n/a	chr2:180415790-180415807
12	CEBPB	chr2:180414949-180415320	HepG2	liver:	n/a	n/a
13	CHD2	chr2:180414966-180415352	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr2:180409549-180409839	HepG2	liver:	n/a	n/a
15	CTCF	chr2:180418956-180418998	K562	blood:	n/a	n/a
16	CTCF	chr2:180426500-180426650	RPTEC	kidney:	n/a	chr2:180426581-180426589
17	CTCF	chr2:180416185-180416214	Kidney_OC	kidney:	n/a	n/a
18	CUX1	chr2:180421082-180421112	GM12878	blood:	n/a	n/a
19	E2F4	chr2:180411568-180411602	GM12878	blood:	n/a	n/a
20	EP300	chr2:180422487-180423450	HepG2	liver:	n/a	chr2:180422989-180423005 chr2:180423062-180423071
21	EP300	chr2:180424699-180425571	HepG2	liver:	n/a	chr2:180425122-180425132
22	EP300	chr2:180424806-180425622	HepG2	liver:	n/a	chr2:180425122-180425132
23	EP300	chr2:180414832-180415415	HepG2	liver:	n/a	n/a
24	EP300	chr2:180422602-180423464	HepG2	liver:	n/a	chr2:180422989-180423005 chr2:180423062-180423071
25	FOXA1	chr2:180423409-180423733	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:180422633-180423739	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:180424707-180425501	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:180422657-180423089	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:180422649-180423299	HepG2	liver:	n/a	n/a
30	FOXA1	chr2:180424820-180425407	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:180424746-180425606	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:180414929-180415312	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:180422605-180423727	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:180423334-180423763	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:180414789-180415655	HepG2	liver:	n/a	n/a
36	FOXA1	chr2:180414840-180415323	HepG2	liver:	n/a	n/a
37	FOXA1	chr2:180424927-180425581	HepG2	liver:	n/a	n/a
38	FOXA2	chr2:180423361-180423733	HepG2	liver:	n/a	n/a
39	FOXA2	chr2:180424780-180425490	HepG2	liver:	n/a	n/a
40	FOXA2	chr2:180424735-180426004	HepG2	liver:	n/a	chr2:180425974-180425986
41	FOXA2	chr2:180422682-180423325	HepG2	liver:	n/a	n/a
42	FOXA2	chr2:180414855-180415283	HepG2	liver:	n/a	n/a
43	FOXA2	chr2:180414858-180415663	HepG2	liver:	n/a	n/a
44	GATA2	chr2:180411399-180411775	HUVEC	blood vessel:	n/a	n/a
45	GATA3	chr2:180418313-180418500	SH-SY5Y	brain:	n/a	n/a
46	GTF2F1	chr2:180415163-180415291	H1-hESC	embryonic stem cell:	n/a	n/a
47	HDAC2	chr2:180424720-180425407	HepG2	liver:	n/a	chr2:180424911-180424919 chr2:180425123-180425132 chr2:180424981-180424995
48	HDAC2	chr2:180424812-180425529	HepG2	liver:	n/a	chr2:180424911-180424919 chr2:180425123-180425132 chr2:180424981-180424995
49	HDAC2	chr2:180422710-180423103	HepG2	liver:	n/a	n/a
50	HDAC2	chr2:180414884-180415257	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:180428696-180428746	HepG2	liver:	n/a
2	chr2:180427325-180427375	ProgFib	skin:	n/a
3	chr2:180427325-180427375	BJ	skin:	n/a
4	chr2:180427325-180427375	K562	blood:	n/a
5	chr2:180428696-180428746	AG04450	lung:	fetal
6	chr2:180428745-180428795	HCT-116	colon:	n/a
7	chr2:180427177-180427227	HepG2	liver:	n/a
8	chr2:180428696-180428746	HEK293	kidney:	embryo
9	chr2:180428745-180428795	HepG2	liver:	n/a
10	chr2:180428745-180428795	HIPEpiC	eye:	n/a
11	chr2:180427177-180427227	MCF-7	breast:	n/a
12	chr2:180428696-180428746	HCM	heart:	n/a
13	chr2:180428696-180428746	MCF-7	breast:	n/a
14	chr2:180427325-180427375	SK-N-SH	brain:	n/a
15	chr2:180427325-180427375	Jurkat	blood:	n/a
16	chr2:180428696-180428746	AG09319	gingival:	n/a
17	chr2:180427177-180427227	NH-A	brain:	n/a
18	chr2:180427177-180427227	GM12878	blood:	n/a
19	chr2:180427177-180427227	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:180428745-180428795	MCF-7	breast:	n/a
21	chr2:180428696-180428746	NB4	blood:	n/a
22	chr2:180428696-180428746	HCF	heart:	n/a
23	chr2:180428745-180428795	HNPCEpiC	eye:	n/a
24	chr2:180427177-180427227	NT2-D1	testis:	n/a
25	chr2:180428745-180428795	HUVEC	blood vessel:	n/a
26	chr2:180427325-180427375	PrEC	prostate:	n/a
27	chr2:180428696-180428746	HIPEpiC	eye:	n/a
28	chr2:180428745-180428795	AG09309	skin:	n/a
29	chr2:180428696-180428746	LNCaP	prostate:	n/a
30	chr2:180428745-180428795	A549	lung:	n/a
31	chr2:180428745-180428795	BJ	skin:	n/a
32	chr2:180427177-180427227	SK-N-SH	brain:	n/a
33	chr2:180428696-180428746	ECC-1	luminal epithelium:	n/a
34	chr2:180427177-180427227	PANC-1	pancreas:	n/a
35	chr2:180427177-180427227	HRE	kidney:	n/a
36	chr2:180428745-180428795	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:180427177-180427227	IMR90	lung:	fetal
38	chr2:180427325-180427375	HIPEpiC	eye:	n/a
39	chr2:180428745-180428795	AG09319	gingival:	n/a
40	chr2:180427325-180427375	HRCEpiC	kidney:	n/a
41	chr2:180427325-180427375	NHDF-neo	bronchial:	n/a
42	chr2:180428696-180428746	GM06990	blood:	n/a
43	chr2:180427325-180427375	AG04449	skin:	fetal
44	chr2:180428696-180428746	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:180428745-180428795	HRPEpiC	eye:	n/a
46	chr2:180427325-180427375	GM06990	blood:	n/a
47	chr2:180427177-180427227	HCF	heart:	n/a
48	chr2:180428696-180428746	SAEC	small airway:	n/a
49	chr2:180427325-180427375	HEK293	kidney:	embryo
50	chr2:180427177-180427227	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180405427..180408122-chr2:180413189..180415887,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF385B	TF binding region
ZNF385B	CpG island

Extended variants
information (count: 720 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:720 , 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	rs80000888	chr2:180409496-180409497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568416442	chr2:180409500-180409501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182563518	chr2:180409515-180409516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149531050	chr2:180409632-180409633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202112513	chr2:180409679-180409680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201263673	chr2:180409689-180409690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558404658	chr2:180409700-180409701	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373686757	chr2:180409701-180409702	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574911298	chr2:180409727-180409728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543822476	chr2:180409761-180409762	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554650615	chr2:180409762-180409763	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574492384	chr2:180409945-180409946	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574373088	chr2:180409950-180409951	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540311898	chr2:180409955-180409956	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560698844	chr2:180409957-180409958	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186842593	chr2:180409963-180409964	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546541798	chr2:180410020-180410021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563140425	chr2:180410037-180410038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542186445	chr2:180410067-180410068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192759993	chr2:180410094-180410095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548341023	chr2:180410095-180410096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568433428	chr2:180410109-180410110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13408803	chr2:180410133-180410134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547849913	chr2:180410246-180410247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575711250	chr2:180410305-180410306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538414494	chr2:180410343-180410344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11894850	chr2:180410371-180410372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11894851	chr2:180410373-180410374	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564311897	chr2:180410509-180410510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533023919	chr2:180410524-180410525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144183205	chr2:180410532-180410533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187802461	chr2:180410586-180410587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574354952	chr2:180410588-180410589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539981767	chr2:180410593-180410594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540025515	chr2:180410621-180410622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553874702	chr2:180410639-180410640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370746919	chr2:180410673-180410674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77134853	chr2:180410731-180410732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529128122	chr2:180410732-180410733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113467293	chr2:180410749-180410750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193127788	chr2:180410806-180410807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563071691	chr2:180410847-180410848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77327223	chr2:180410866-180410867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542494383	chr2:180410921-180410922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201436037	chr2:180410937-180410938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373649879	chr2:180410938-180410939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184898807	chr2:180410954-180410955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189228375	chr2:180410960-180410961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79943166	chr2:180410975-180410976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113713114	chr2:180411015-180411016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Myelofibrosis	22110671	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180403800-180409800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:180404000-180410000	Strong transcription	Liver	Liver
3	chr2:180404200-180409800	Weak transcription	Gastric	stomach
4	chr2:180405400-180410600	Enhancers	HepG2	liver
5	chr2:180407000-180411400	Weak transcription	Right Atrium	heart
6	chr2:180407800-180410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:180408400-180409600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:180408400-180409600	Enhancers	Brain Germinal Matrix	brain
9	chr2:180408400-180410600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:180408400-180423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:180408600-180409800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:180408800-180414200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:180408800-180415600	Weak transcription	Fetal Brain Female	brain
14	chr2:180409000-180409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:180409200-180409600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:180409600-180409800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:180409600-180410200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:180409800-180410000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:180409800-180410000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:180409800-180410000	Enhancers	Gastric	stomach
21	chr2:180409800-180410000	Enhancers	Lung	lung
22	chr2:180409800-180411400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:180410000-180410200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:180410000-180415400	Weak transcription	Liver	Liver
25	chr2:180410200-180415400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:180410600-180414000	Weak transcription	HepG2	liver
27	chr2:180410600-180416200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:180411400-180411600	ZNF genes & repeats	Right Atrium	heart
29	chr2:180411400-180411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:180411600-180412200	Weak transcription	Right Atrium	heart
31	chr2:180413600-180413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:180413800-180414000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
33	chr2:180413800-180414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:180413800-180416200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr2:180414000-180414600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
36	chr2:180414000-180416200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:180414000-180416400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:180414000-180416800	Enhancers	HepG2	liver
39	chr2:180414200-180416600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:180414200-180417000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:180414400-180415000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:180414600-180415000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr2:180414600-180415400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:180414800-180415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:180414800-180415600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:180414800-180415600	Enhancers	Fetal Brain Male	brain
47	chr2:180414800-180416000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:180414800-180417000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:180415000-180415200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:180415000-180416200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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