Variant report

Variant	nsv532176
Chromosome Location	chr7:108905368-109024846
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	chr7:109017585-109017927	HepG2	liver:	n/a	chr7:109017757-109017768
2	CEBPB	chr7:108910445-108910657	IMR90	lung:	n/a	chr7:108910539-108910550
3	CEBPB	chr7:108931312-108931584	HepG2	liver:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
4	CEBPB	chr7:109019192-109019432	Hela-S3	cervix:	n/a	chr7:109019302-109019313
5	CEBPB	chr7:109017612-109017804	H1-hESC	embryonic stem cell:	n/a	chr7:109017757-109017768
6	CEBPB	chr7:108910394-108910624	K562	blood:	n/a	chr7:108910539-108910550
7	CEBPB	chr7:109019170-109019448	HepG2	liver:	n/a	chr7:109019302-109019313
8	CEBPB	chr7:109019300-109019460	K562	blood:	n/a	chr7:109019302-109019313
9	CEBPB	chr7:108910428-108910645	A549	lung:	n/a	chr7:108910539-108910550
10	CEBPB	chr7:108910412-108910678	HepG2	liver:	n/a	chr7:108910539-108910550
11	CEBPB	chr7:108931360-108931601	A549	lung:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
12	CEBPB	chr7:108911956-108912156	HepG2	liver:	n/a	chr7:108912038-108912049
13	CEBPB	chr7:108983855-108984082	MCF-7	breast:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
14	CEBPB	chr7:109019049-109019385	A549	lung:	n/a	chr7:109019302-109019313
15	CEBPB	chr7:108983779-108984104	HepG2	liver:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
16	CEBPB	chr7:108983779-108984138	Hela-S3	cervix:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
17	CEBPB	chr7:109017627-109017859	MCF-7	breast:	n/a	chr7:109017757-109017768
18	CEBPB	chr7:108983843-108984061	A549	lung:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
19	CEBPB	chr7:108931321-108931616	K562	blood:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
20	CTCF	chr7:108985450-108985548	Hela-S3	cervix:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
21	CTCF	chr7:108985402-108985574	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
22	CTCF	chr7:108985420-108985570	WERI-Rb-1	eye:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
23	CTCF	chr7:108963108-108963201	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:108963148-108963255	GM13977	blood:	n/a	n/a
25	CTCF	chr7:108985470-108985516	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
26	CTCF	chr7:108985420-108985570	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
27	CTCF	chr7:108985380-108985530	BE2_C	brain:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
28	CTCF	chr7:108985328-108985690	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
29	CTCF	chr7:108985436-108985512	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
30	CTCF	chr7:108963160-108963310	BE2_C	brain:	n/a	n/a
31	CTCF	chr7:108963174-108963213	Medullo	brain:	n/a	n/a
32	CTCF	chr7:108985518-108985526	LNCaP	prostate:	n/a	n/a
33	CTCF	chr7:108985394-108985570	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
34	CTCF	chr7:109007246-109007331	LNCaP	prostate:	n/a	n/a
35	CTCF	chr7:109016987-109017073	GM20000	blood:	n/a	n/a
36	CTCF	chr7:108985464-108985544	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
37	CTCF	chr7:108985419-108985542	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
38	CTCF	chr7:108963040-108963221	GM12878	blood:	n/a	n/a
39	CTCF	chr7:108985417-108985543	GM19239	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
40	CTCF	chr7:108963060-108963210	MCF-7	breast:	n/a	n/a
41	CTCF	chr7:108985395-108985599	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
42	CTCF	chr7:108998100-108998250	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr7:108985454-108985549	A549	lung:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
44	CTCF	chr7:108985352-108985607	GM12878	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
45	CTCF	chr7:108985380-108985530	HMEC	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
46	CTCF	chr7:108985420-108985570	NHEK	skin:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
47	CTCF	chr7:108985460-108985505	H1-hESC	embryonic stem cell:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
48	CTCF	chr7:108942331-108942364	GM13977	blood:	n/a	n/a
49	CTCF	chr7:108985480-108985630	Caco-2	colon:	n/a	chr7:108985483-108985501
50	CTCF	chr7:108985460-108985610	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501

No.	Distal block	Cell Line	Cell type
1	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
2	chr7:108926418..108928901-chr7:108931710..108934777,3	K562	blood:
3	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
4	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
5	chr7:108930299..108932601-chr7:108936912..108938938,2	K562	blood:
6	chr7:108930299..108932601-chr7:108936912..108938938,2	K562	blood:
7	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
8	chr6:101816226..101817017-chr7:108978282..108979156,2	MCF-7	breast:
9	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
10	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
11	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
12	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
13	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:
14	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
15	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
16	chr7:108926418..108928901-chr7:108931710..108934777,3	K562	blood:
17	chr6:125963245..125963978-chr7:108992120..108992898,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf66-1	chr7:108962377-108962670	XLOC_006559
2	lnc-C7orf66-1	chr7:108966269-108966372	XLOC_006559

Variant related genes	Relation type
ENSG00000230941	TF binding region
PLAG1	miRNA target sites

Extended variants
information (count: 803 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191950659	chr7:108911824-108911825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73418843	chr7:108911832-108911833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370393778	chr7:108911894-108911895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28588255	chr7:108911907-108911908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183165475	chr7:108911948-108911949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558107861	chr7:108911977-108911978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10230769	chr7:108922204-108922205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537365918	chr7:108922210-108922211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112099544	chr7:108922272-108922273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563193452	chr7:108922274-108922275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577522587	chr7:108922284-108922285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17156701	chr7:108922366-108922367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115708035	chr7:108922373-108922374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75534356	chr7:108922378-108922379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528614475	chr7:108922399-108922400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541933777	chr7:108922477-108922478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2188440	chr7:108922486-108922487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547623194	chr7:108922506-108922507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184938305	chr7:108922510-108922511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188234683	chr7:108922532-108922533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544185735	chr7:108922582-108922583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564357125	chr7:108922588-108922589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533051866	chr7:108922592-108922593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77752819	chr7:108922623-108922624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180939544	chr7:108922696-108922697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185396122	chr7:108922781-108922782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528590819	chr7:108922812-108922813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548635459	chr7:108922982-108922983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568378643	chr7:108923025-108923026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537411643	chr7:108923032-108923033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557374760	chr7:108923040-108923041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191335862	chr7:108923045-108923046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114474337	chr7:108923047-108923048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376858938	chr7:108923079-108923080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144226846	chr7:108923194-108923195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183642018	chr7:108923202-108923203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186803734	chr7:108923224-108923225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541585197	chr7:108923238-108923239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555397771	chr7:108923292-108923293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532995820	chr7:108923301-108923302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575131979	chr7:108923324-108923325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192158766	chr7:108923343-108923344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563915364	chr7:108923358-108923359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375280203	chr7:108923395-108923396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564716488	chr7:108923405-108923406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532228960	chr7:108923429-108923430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111689704	chr7:108923461-108923462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540113628	chr7:108923462-108923463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188011038	chr7:108923484-108923485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559937405	chr7:108923497-108923498	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108911800-108912000	Enhancers	Pancreas	Pancrea
2	chr7:108922200-108924000	Enhancers	Fetal Heart	heart
3	chr7:108922400-108922600	Enhancers	Fetal Brain Male	brain
4	chr7:108924000-108924400	Weak transcription	Fetal Heart	heart
5	chr7:108924400-108926200	Enhancers	Fetal Heart	heart
6	chr7:108925000-108926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:108925400-108925800	Enhancers	NH-A	brain
8	chr7:108928600-108928800	Enhancers	Dnd41	blood
9	chr7:108928800-108929400	Weak transcription	Dnd41	blood
10	chr7:108929400-108930400	Enhancers	Dnd41	blood
11	chr7:108935400-108936000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:108935600-108936000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:108935600-108936000	Enhancers	Left Ventricle	heart
14	chr7:108939000-108940600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:108949400-108949800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:108949800-108951600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:108963000-108963600	Enhancers	Gastric	stomach
18	chr7:108983200-108983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:108983200-108983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:108985400-108986000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:109001800-109002200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:109012000-109013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:109015000-109017800	Enhancers	Fetal Intestine Small	intestine
24	chr7:109016000-109016400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:109016200-109016600	Enhancers	Fetal Heart	heart
26	chr7:109016400-109019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:109016600-109018200	Enhancers	Liver	Liver
28	chr7:109017200-109017600	Enhancers	Pancreas	Pancrea
29	chr7:109017800-109019000	Weak transcription	Fetal Intestine Small	intestine
30	chr7:109018200-109018600	Weak transcription	Liver	Liver
31	chr7:109018600-109019600	Enhancers	Liver	Liver
32	chr7:109019000-109020000	Enhancers	Fetal Intestine Small	intestine
33	chr7:109019200-109020000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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