Variant report

Variant	nsv961331
Chromosome Location	chr2:96217828-96240105
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	BACH1	chr2:96219131-96219142	K562	blood:	n/a	n/a
2	BRCA1	chr2:96222426-96222486	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:96231479-96231692	HepG2	liver:	n/a	chr2:96231561-96231572
4	CEBPB	chr2:96234724-96235032	HepG2	liver:	n/a	chr2:96234856-96234867 chr2:96234856-96234869 chr2:96234856-96234869 chr2:96234857-96234868 chr2:96234856-96234867
5	CEBPB	chr2:96234722-96234979	K562	blood:	n/a	chr2:96234856-96234867 chr2:96234856-96234869 chr2:96234856-96234869 chr2:96234857-96234868 chr2:96234856-96234867
6	CEBPB	chr2:96234713-96234983	IMR90	lung:	n/a	chr2:96234856-96234867 chr2:96234856-96234869 chr2:96234856-96234869 chr2:96234857-96234868 chr2:96234856-96234867
7	CTCF	chr2:96218807-96218903	GM19240	blood:	n/a	n/a
8	CTCF	chr2:96226280-96226430	NB4	blood:	n/a	n/a
9	CTCF	chr2:96234400-96234550	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:96234256-96234629	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:96234333-96234538	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:96218828-96218895	Fibrobl	skin:	n/a	n/a
13	CTCF	chr2:96234318-96234594	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:96218838-96218887	GM19239	blood:	n/a	n/a
15	CTCF	chr2:96218890-96218943	GM10266	blood:	n/a	n/a
16	CTCF	chr2:96218944-96218950	GM10266	blood:	n/a	n/a
17	CTCF	chr2:96218824-96218907	GM12892	blood:	n/a	n/a
18	CTCF	chr2:96218792-96218920	GM19238	blood:	n/a	n/a
19	CTCF	chr2:96234371-96234482	NHEK	skin:	n/a	n/a
20	CTCF	chr2:96227400-96227550	GM12875	blood:	n/a	n/a
21	CTCF	chr2:96218728-96218940	GM12878	blood:	n/a	n/a
22	CTCF	chr2:96234300-96234450	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:96234440-96234590	HMEC	breast:	n/a	n/a
24	CTCF	chr2:96234380-96234530	NHEK	skin:	n/a	n/a
25	CTCF	chr2:96237920-96238070	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr2:96234360-96234510	HCT-116	colon:	n/a	n/a
27	CTCF	chr2:96234337-96234498	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:96218858-96218863	Gliobla	brain:	n/a	n/a
29	CTCF	chr2:96234320-96234470	Caco-2	colon:	n/a	n/a
30	CUX1	chr2:96224455-96224599	K562	blood:	n/a	n/a
31	CUX1	chr2:96218586-96218983	K562	blood:	n/a	n/a
32	EBF1	chr2:96218685-96218932	GM12878	blood:	n/a	n/a
33	ELK1	chr2:96237907-96238006	K562	blood:	n/a	n/a
34	FAM48A	chr2:96228493-96228693	GM12878	blood:	n/a	n/a
35	FAM48A	chr2:96222300-96222505	GM12878	blood:	n/a	n/a
36	GATA3	chr2:96228728-96229224	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr2:96237370-96237656	SH-SY5Y	brain:	n/a	n/a
38	IRF1	chr2:96225634-96225650	K562	blood:	n/a	n/a
39	IRF1	chr2:96222237-96222425	K562	blood:	n/a	n/a
40	IRF1	chr2:96218481-96218643	K562	blood:	n/a	n/a
41	JUN	chr2:96222461-96222613	HepG2	liver:	n/a	chr2:96222575-96222588 chr2:96222579-96222588
42	JUND	chr2:96218223-96218921	K562	blood:	n/a	n/a
43	JUND	chr2:96222420-96222684	HepG2	liver:	n/a	chr2:96222579-96222588
44	MAZ	chr2:96229093-96229313	HepG2	liver:	n/a	n/a
45	MAZ	chr2:96221517-96221720	HepG2	liver:	n/a	n/a
46	MAZ	chr2:96227701-96227803	HepG2	liver:	n/a	n/a
47	MYC	chr2:96218758-96218958	K562	blood:	n/a	n/a
48	MYC	chr2:96237361-96237808	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:96218831-96218881	Gliobla	brain:	n/a	n/a
50	POLR2A	chr2:96228351-96228494	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96234916..96236979-chr2:96238001..96239662,2	MCF-7	breast:
2	chr2:96192581..96194179-chr2:96218990..96220757,2	MCF-7	breast:
3	chr2:96218664..96220418-chr2:96224098..96225658,2	K562	blood:
4	chr2:96197171..96199687-chr2:96228199..96230029,2	MCF-7	breast:
5	chr2:96218664..96220418-chr2:96224098..96225658,2	K562	blood:
6	chr2:96234916..96236979-chr2:96238001..96239662,2	MCF-7	breast:

Variant related genes	Relation type
TRIM51JP	TF binding region

Extended variants
information (count: 180 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112709526	chr2:96217892-96217893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566109198	chr2:96218000-96218001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139879836	chr2:96218037-96218038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558259841	chr2:96218059-96218060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578022440	chr2:96218089-96218090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537655920	chr2:96218195-96218196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557558946	chr2:96218207-96218208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183275353	chr2:96218208-96218209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546055443	chr2:96218277-96218278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568818221	chr2:96218292-96218293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543302282	chr2:96218302-96218303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188104620	chr2:96218332-96218333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539519180	chr2:96218375-96218376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149688817	chr2:96218399-96218400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538831326	chr2:96218436-96218437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202148997	chr2:96218456-96218457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80066844	chr2:96218475-96218476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78123144	chr2:96218525-96218526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373681171	chr2:96218557-96218558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563105589	chr2:96218581-96218582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529046671	chr2:96218613-96218614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6706478	chr2:96218625-96218626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558247372	chr2:96218652-96218653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565814503	chr2:96218671-96218672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535054148	chr2:96218706-96218707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372891811	chr2:96218766-96218767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375823312	chr2:96218870-96218871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79546441	chr2:96218872-96218873	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs537495141	chr2:96218944-96218945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371186352	chr2:96218975-96218976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557597574	chr2:96219013-96219014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190975327	chr2:96219035-96219036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376506303	chr2:96219105-96219106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537445695	chr2:96219134-96219135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539301078	chr2:96226203-96226204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549771998	chr2:96226206-96226207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186772261	chr2:96226213-96226214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535460976	chr2:96226231-96226232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555864443	chr2:96226247-96226248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537433508	chr2:96226251-96226252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7602559	chr2:96226281-96226282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555832536	chr2:96226297-96226298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532141537	chr2:96226315-96226316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549953807	chr2:96226318-96226319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188517224	chr2:96226321-96226322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181243286	chr2:96226426-96226427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185808255	chr2:96226444-96226445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144502468	chr2:96226452-96226453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567938856	chr2:96226513-96226514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72821439	chr2:96226518-96226519	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96217400-96218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:96217400-96218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:96218200-96218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:96218200-96219000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:96218400-96219000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:96218400-96219000	Enhancers	Brain Substantia Nigra	brain
7	chr2:96218600-96218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:96218600-96219200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:96218600-96219200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:96218600-96219200	Enhancers	GM12878-XiMat	blood
11	chr2:96218800-96219000	Enhancers	Brain Anterior Caudate	brain
12	chr2:96218800-96219000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:96226200-96226600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:96234400-96235400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:96237600-96238000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:96238000-96239600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:96239400-96241800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:96239600-96241200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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