Variant report

Variant	nsv581386
Chromosome Location	chr2:35093293-35127305
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	chr2:35100004-35100077	A549	lung:	n/a	n/a
2	CTCF	chr2:35105912-35105977	GM10248	blood:	n/a	n/a
3	CTCF	chr2:35117048-35117076	Lung_OC	lung:	n/a	n/a
4	CTCF	chr2:35096420-35096570	HAc	cerebellar:	n/a	n/a
5	E2F4	chr2:35120144-35120339	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr2:35100372-35100421	GM12878	blood:	n/a	n/a
7	GATA3	chr2:35119780-35119906	SH-SY5Y	brain:	n/a	n/a
8	JUN	chr2:35122674-35122834	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr2:35117904-35117942	HepG2	liver:	n/a	n/a
10	MAFK	chr2:35118955-35119070	HepG2	liver:	n/a	n/a
11	MAFK	chr2:35120480-35120674	HepG2	liver:	n/a	chr2:35120539-35120555
12	MYC	chr2:35097019-35097426	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr2:35094805-35095057	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr2:35104989-35105116	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr2:35117670-35117869	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:35113190-35113254	ProgFib	skin:	n/a	n/a
17	POLR2A	chr2:35113074-35113170	Gliobla	brain:	n/a	n/a
18	POLR2A	chr2:35097777-35097871	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:35122406-35122499	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:35105202-35105390	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr2:35101483-35101683	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr2:35127176-35128208	SK-N-MC	brain:	n/a	n/a
23	SPI1	chr2:35114897-35115086	GM12891	blood:	n/a	n/a
24	STAT3	chr2:35093319-35093519	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr2:35118576-35118776	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr2:35103811-35103838	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr2:35118872-35119024	MCF10A-Er-Src	breast:	n/a	chr2:35118922-35118933
28	STAT3	chr2:35111236-35111299	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35086981..35089694-chr2:35094487..35097235,2	K562	blood:
2	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:

Variant related genes	Relation type
ENSG00000226994	TF binding region

Extended variants
information (count: 587 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547284192	chr2:35093327-35093328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560763286	chr2:35093334-35093335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs1395705	chr2:35093365-35093366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114957730	chr2:35093410-35093411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555859170	chr2:35093414-35093415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78931801	chr2:35093417-35093418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs5002648	chr2:35093425-35093426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538389788	chr2:35093427-35093428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77108152	chr2:35093433-35093434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs142958598	chr2:35093440-35093441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186952678	chr2:35093450-35093451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540122753	chr2:35093454-35093455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560455017	chr2:35093867-35093868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538326405	chr2:35093873-35093874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558299252	chr2:35093906-35093907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80296267	chr2:35093924-35093925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533293740	chr2:35094000-35094001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76223094	chr2:35095227-35095228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17015746	chr2:35095246-35095247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs538910230	chr2:35095258-35095259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139325111	chr2:35095261-35095262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146521531	chr2:35095298-35095299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556156883	chr2:35095351-35095352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376828902	chr2:35095370-35095371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs280749	chr2:35095373-35095374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554843870	chr2:35095386-35095387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs280748	chr2:35095443-35095444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs66572399	chr2:35095478-35095479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537169488	chr2:35095497-35095498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370437629	chr2:35095504-35095505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs280747	chr2:35095511-35095512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576926847	chr2:35095513-35095514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545653054	chr2:35095535-35095536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188674242	chr2:35095548-35095549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77520317	chr2:35095561-35095562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192823072	chr2:35095573-35095574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564388089	chr2:35095620-35095621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578192614	chr2:35095660-35095661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386644733	chr2:35095677-35095678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17015748	chr2:35095679-35095680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs184764535	chr2:35095712-35095713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561465281	chr2:35095716-35095717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67523674	chr2:35095773-35095774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563309522	chr2:35095774-35095775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532424586	chr2:35095823-35095824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552401723	chr2:35095838-35095839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565846440	chr2:35095868-35095869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs280746	chr2:35095936-35095937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs548383158	chr2:35095989-35095990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189222211	chr2:35096014-35096015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35093800-35094000	Enhancers	Fetal Kidney	kidney
2	chr2:35095200-35095400	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:35095200-35095600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:35095600-35100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:35097600-35098600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:35098600-35098800	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:35098800-35099600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:35098800-35099800	Enhancers	Brain Substantia Nigra	brain
9	chr2:35098800-35100200	Enhancers	Brain Angular Gyrus	brain
10	chr2:35098800-35100200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:35099000-35100200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:35099200-35100200	Enhancers	Brain Germinal Matrix	brain
13	chr2:35099400-35100800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:35099600-35100000	Enhancers	Stomach Mucosa	stomach
15	chr2:35099600-35100800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:35099800-35100800	Active TSS	Brain Substantia Nigra	brain
17	chr2:35100000-35100200	Enhancers	Brain Anterior Caudate	brain
18	chr2:35100200-35100400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr2:35100200-35100400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:35100200-35100600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:35100200-35100600	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:35100200-35100600	Enhancers	Fetal Lung	lung
23	chr2:35100200-35100600	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:35100200-35100800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:35100200-35100800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:35100200-35100800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:35100200-35100800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:35100200-35100800	Active TSS	Brain Angular Gyrus	brain
29	chr2:35100200-35100800	Active TSS	Brain Hippocampus Middle	brain
30	chr2:35100200-35100800	Active TSS	Right Atrium	heart
31	chr2:35100400-35100800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:35100400-35100800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:35100400-35100800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:35100400-35100800	Active TSS	Brain Anterior Caudate	brain
35	chr2:35100400-35100800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:35100600-35100800	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:35100800-35102400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:35100800-35102600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:35100800-35102600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:35100800-35104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:35102400-35102600	Enhancers	Brain Cingulate Gyrus	brain
42	chr2:35102400-35102800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:35102600-35103200	Enhancers	Brain Substantia Nigra	brain
44	chr2:35102600-35105000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:35104800-35105000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:35112400-35113200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:35113000-35113400	Active TSS	Pancreas	Pancrea
48	chr2:35116000-35116200	Enhancers	Brain Germinal Matrix	brain
49	chr2:35116000-35116200	Enhancers	Colon Smooth Muscle	Colon
50	chr2:35116200-35117400	Weak transcription	Brain Germinal Matrix	brain

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