Variant report

Variant	nsv873849
Chromosome Location	chr2:35684885-35717239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:35686874-35687275	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:35695683-35695686	HepG2	liver:	n/a	n/a
3	CTCF	chr2:35703271-35703432	MCF-7	breast:	n/a	n/a
4	CTCF	chr2:35703294-35703415	GM12891	blood:	n/a	n/a
5	CTCF	chr2:35703300-35703450	HEK293	kidney:	n/a	n/a
6	CTCF	chr2:35703292-35703461	HepG2	liver:	n/a	n/a
7	CTCF	chr2:35703220-35703370	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr2:35703282-35703442	Gliobla	brain:	n/a	n/a
9	CTCF	chr2:35703347-35703422	GM19238	blood:	n/a	n/a
10	CTCF	chr2:35707160-35707195	GM20000	blood:	n/a	n/a
11	CTCF	chr2:35703754-35703821	LNCaP	prostate:	n/a	n/a
12	CTCF	chr2:35703351-35703380	NHEK	skin:	n/a	n/a
13	CTCF	chr2:35703680-35703796	GM10248	blood:	n/a	n/a
14	CTCF	chr2:35703270-35703465	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr2:35703290-35703421	A549	lung:	n/a	n/a
16	CTCF	chr2:35703260-35703410	HepG2	liver:	n/a	n/a
17	CTCF	chr2:35703256-35703470	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:35703200-35703350	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:35703328-35703415	ProgFib	skin:	n/a	n/a
20	CTCF	chr2:35703275-35703482	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:35703280-35703430	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:35703324-35703419	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr2:35703320-35703470	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr2:35703340-35703490	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr2:35703256-35703448	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:35703280-35703430	GM12867	blood:	n/a	n/a
27	CTCF	chr2:35703370-35703407	GM12878	blood:	n/a	n/a
28	CTCF	chr2:35703263-35703439	MCF-7	breast:	n/a	n/a
29	EP300	chr2:35686516-35687441	T-47D	breast:	n/a	chr2:35687136-35687146 chr2:35687092-35687102 chr2:35687119-35687129
30	EP300	chr2:35687626-35688122	T-47D	breast:	n/a	chr2:35687703-35687717
31	ESR1	chr2:35686830-35687266	T-47D	breast:	n/a	n/a
32	ESR1	chr2:35686747-35687232	T-47D	breast:	n/a	n/a
33	ESR1	chr2:35687599-35688022	T-47D	breast:	n/a	n/a
34	ESR1	chr2:35687605-35688051	T-47D	breast:	n/a	n/a
35	ESR1	chr2:35686423-35687352	T-47D	breast:	n/a	n/a
36	ESR1	chr2:35686747-35687303	T-47D	breast:	n/a	n/a
37	ESR1	chr2:35687698-35687935	T-47D	breast:	n/a	n/a
38	ESR1	chr2:35686765-35687211	T-47D	breast:	n/a	n/a
39	FOS	chr2:35693419-35694031	HUVEC	blood vessel:	n/a	chr2:35693744-35693752 chr2:35693742-35693754
40	FOXA1	chr2:35686901-35687311	T-47D	breast:	n/a	chr2:35687089-35687101 chr2:35687042-35687054 chr2:35687131-35687146
41	FOXA1	chr2:35686850-35687360	HepG2	liver:	n/a	chr2:35687089-35687101 chr2:35687042-35687054 chr2:35687131-35687146
42	FOXA1	chr2:35700700-35700928	T-47D	breast:	n/a	chr2:35700845-35700857
43	FOXA1	chr2:35686965-35687313	HepG2	liver:	n/a	chr2:35687089-35687101 chr2:35687042-35687054 chr2:35687131-35687146
44	FOXA1	chr2:35687084-35687227	T-47D	breast:	n/a	chr2:35687089-35687101 chr2:35687131-35687146
45	FOXA1	chr2:35686437-35686819	T-47D	breast:	n/a	n/a
46	FOXA2	chr2:35687073-35687222	HepG2	liver:	n/a	chr2:35687089-35687101
47	GATA2	chr2:35693380-35693938	HUVEC	blood vessel:	n/a	chr2:35693745-35693754 chr2:35693871-35693878
48	GATA3	chr2:35693305-35693505	SH-SY5Y	brain:	n/a	chr2:35693348-35693355
49	GATA3	chr2:35686851-35687289	MCF-7	breast:	n/a	n/a
50	GATA3	chr2:35686934-35687353	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:35694136..35697118-chr2:35710618..35713142,3	MCF-7	breast:
2	chr2:35696604..35698364-chr2:35701530..35703785,2	MCF-7	breast:
3	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:
4	chr2:35685603..35687345-chr2:35690892..35693607,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548ad	chr2:35696519-35696540	MIMAT0018946

Variant related genes	Relation type
MIR548AD	TF binding region
ENSG00000229013	TF binding region
RNU6-1117P	TF binding region
ENSG00000229013	chromatin interactions
ENSG00000207255	chromatin interactions
ENSG00000265301	chromatin interactions

Extended variants
information (count: 967 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4404249	chr2:35684885-35684886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78362921	chr2:35684904-35684905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546534596	chr2:35684935-35684936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13035496	chr2:35684942-35684943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188068131	chr2:35684961-35684962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375759156	chr2:35684969-35684970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558855000	chr2:35685014-35685015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202004906	chr2:35685033-35685034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368245114	chr2:35685034-35685035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541214853	chr2:35685082-35685083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561008167	chr2:35685143-35685144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138213340	chr2:35685157-35685158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372124143	chr2:35685158-35685159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543104804	chr2:35685191-35685192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563306421	chr2:35685197-35685198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140551527	chr2:35685211-35685212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149589489	chr2:35685258-35685259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374528432	chr2:35685272-35685273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551679644	chr2:35685284-35685285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12712439	chr2:35685300-35685301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114091127	chr2:35685306-35685307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2719088	chr2:35685329-35685330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs144208753	chr2:35685335-35685336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62143289	chr2:35685408-35685409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142218310	chr2:35685460-35685461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192743548	chr2:35685478-35685479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538625610	chr2:35685504-35685505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558916475	chr2:35685509-35685510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184292985	chr2:35685526-35685527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146388118	chr2:35685535-35685536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2719089	chr2:35685579-35685580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139779054	chr2:35685592-35685593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574508582	chr2:35685601-35685602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144392884	chr2:35685643-35685644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563209959	chr2:35685654-35685655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77739036	chr2:35685665-35685666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545378169	chr2:35685718-35685719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114060888	chr2:35685719-35685720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150679961	chr2:35685737-35685738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547637140	chr2:35685791-35685792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115627185	chr2:35685826-35685827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186591606	chr2:35685839-35685840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139492548	chr2:35685883-35685884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556722187	chr2:35685924-35685925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200611433	chr2:35685942-35685943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570027063	chr2:35686007-35686008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191476538	chr2:35686022-35686023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115190516	chr2:35686036-35686037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566034232	chr2:35686096-35686097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534927902	chr2:35686133-35686134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35680000-35687400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35686600-35687400	Enhancers	NH-A	brain
3	chr2:35686600-35689000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:35686600-35689600	Enhancers	HSMM	muscle
5	chr2:35687200-35687400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:35687400-35687800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:35687400-35687800	Enhancers	HSMMtube	muscle
8	chr2:35687400-35687800	Flanking Active TSS	NH-A	brain
9	chr2:35687400-35687800	Enhancers	NHLF	lung
10	chr2:35687400-35688200	Enhancers	Fetal Brain Male	brain
11	chr2:35687400-35688400	Enhancers	HMEC	breast
12	chr2:35687600-35688800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35687600-35689200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:35687800-35688200	Weak transcription	NHLF	lung
15	chr2:35687800-35689600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:35687800-35689600	Enhancers	NH-A	brain
17	chr2:35688200-35688800	Enhancers	NHLF	lung
18	chr2:35688400-35689000	Weak transcription	HMEC	breast
19	chr2:35688600-35688800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:35689000-35689200	Enhancers	HMEC	breast
21	chr2:35689200-35689600	Enhancers	GM12878-XiMat	blood
22	chr2:35689400-35689600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:35689400-35692000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:35689600-35693400	Weak transcription	NH-A	brain
25	chr2:35691400-35693000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:35693000-35693800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:35693200-35693800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:35693200-35693800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:35693200-35694000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:35693200-35694400	Enhancers	HUVEC	blood vessel
31	chr2:35693400-35693800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:35693400-35693800	Enhancers	NH-A	brain
33	chr2:35693800-35701200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:35700600-35700800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:35701200-35701400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:35711600-35711800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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