Variant report

Variant	nsv888950
Chromosome Location	chr7:108945741-109040135
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	chr7:109017612-109017804	H1-hESC	embryonic stem cell:	n/a	chr7:109017757-109017768
2	CEBPB	chr7:109017585-109017927	HepG2	liver:	n/a	chr7:109017757-109017768
3	CEBPB	chr7:108983779-108984104	HepG2	liver:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
4	CEBPB	chr7:109019170-109019448	HepG2	liver:	n/a	chr7:109019302-109019313
5	CEBPB	chr7:109017627-109017859	MCF-7	breast:	n/a	chr7:109017757-109017768
6	CEBPB	chr7:109033645-109034051	HepG2	liver:	n/a	n/a
7	CEBPB	chr7:108983779-108984138	Hela-S3	cervix:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
8	CEBPB	chr7:109019192-109019432	Hela-S3	cervix:	n/a	chr7:109019302-109019313
9	CEBPB	chr7:109019049-109019385	A549	lung:	n/a	chr7:109019302-109019313
10	CEBPB	chr7:109019300-109019460	K562	blood:	n/a	chr7:109019302-109019313
11	CEBPB	chr7:108983855-108984082	MCF-7	breast:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
12	CEBPB	chr7:108983843-108984061	A549	lung:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
13	CTCF	chr7:108985420-108985570	WERI-Rb-1	eye:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
14	CTCF	chr7:108985480-108985630	Caco-2	colon:	n/a	chr7:108985483-108985501
15	CTCF	chr7:108985464-108985544	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
16	CTCF	chr7:108985450-108985548	Hela-S3	cervix:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
17	CTCF	chr7:108985420-108985570	NHEK	skin:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
18	CTCF	chr7:108963160-108963310	BE2_C	brain:	n/a	n/a
19	CTCF	chr7:108963148-108963255	GM13977	blood:	n/a	n/a
20	CTCF	chr7:108985460-108985610	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
21	CTCF	chr7:108985454-108985549	A549	lung:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
22	CTCF	chr7:108985453-108985529	GM19238	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
23	CTCF	chr7:108985460-108985505	H1-hESC	embryonic stem cell:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
24	CTCF	chr7:108963174-108963213	Medullo	brain:	n/a	n/a
25	CTCF	chr7:108985380-108985530	BE2_C	brain:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
26	CTCF	chr7:108998100-108998250	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr7:109029760-109029910	NB4	blood:	n/a	n/a
28	CTCF	chr7:109007246-109007331	LNCaP	prostate:	n/a	n/a
29	CTCF	chr7:108985360-108985510	BE2_C	brain:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
30	CTCF	chr7:108985518-108985526	LNCaP	prostate:	n/a	n/a
31	CTCF	chr7:108963108-108963201	MCF-7	breast:	n/a	n/a
32	CTCF	chr7:108985302-108985604	H1-hESC	embryonic stem cell:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
33	CTCF	chr7:108985419-108985542	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
34	CTCF	chr7:108985436-108985512	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
35	CTCF	chr7:108985394-108985570	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
36	CTCF	chr7:108985395-108985599	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
37	CTCF	chr7:108963060-108963210	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:108985380-108985530	HMEC	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
39	CTCF	chr7:108985328-108985690	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
40	CTCF	chr7:108985470-108985516	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
41	CTCF	chr7:108963040-108963221	GM12878	blood:	n/a	n/a
42	CTCF	chr7:108985420-108985570	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
43	CTCF	chr7:109016987-109017073	GM20000	blood:	n/a	n/a
44	CTCF	chr7:109028020-109028170	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:108985417-108985543	GM19239	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
46	CTCF	chr7:108985352-108985607	GM12878	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
47	CTCF	chr7:108985402-108985574	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
48	E2F4	chr7:108951988-108952220	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr7:108948179-108948311	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:108969733-108969804	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
2	chr6:125963245..125963978-chr7:108992120..108992898,2	MCF-7	breast:
3	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
4	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
5	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
6	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
7	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
8	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
9	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
10	chr6:101816226..101817017-chr7:108978282..108979156,2	MCF-7	breast:
11	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
12	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:

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

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

Extended variants
information (count: 504 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553542706	chr7:108949403-108949404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146090902	chr7:108949467-108949468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs533558613	chr7:108949483-108949484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566847518	chr7:108949487-108949488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570737772	chr7:108949526-108949527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs185994521	chr7:108949537-108949538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11983931	chr7:108949549-108949550	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575908345	chr7:108949553-108949554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs10250782	chr7:108949567-108949568	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531066359	chr7:108949581-108949582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs114411739	chr7:108949600-108949601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540425254	chr7:108949684-108949685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560222567	chr7:108949708-108949709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573640384	chr7:108949729-108949730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs549071326	chr7:108949734-108949735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs556090133	chr7:108949799-108949800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191288622	chr7:108949828-108949829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71141646	chr7:108949876-108949877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562318789	chr7:108949884-108949885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531643653	chr7:108949950-108949951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528320517	chr7:108949956-108949957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs848835	chr7:108949978-108949979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565165750	chr7:108950035-108950036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111650504	chr7:108950048-108950049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73420853	chr7:108950059-108950060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566986844	chr7:108950060-108950061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115947737	chr7:108950109-108950110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549378732	chr7:108950127-108950128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139309298	chr7:108950128-108950129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532804780	chr7:108950131-108950132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377339070	chr7:108950148-108950149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538158478	chr7:108950173-108950174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144075699	chr7:108950182-108950183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146522824	chr7:108950187-108950188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562781966	chr7:108950218-108950219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149105188	chr7:108950278-108950279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182612554	chr7:108950301-108950302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185588135	chr7:108950304-108950305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542313228	chr7:108950310-108950311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370668827	chr7:108950342-108950343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576144298	chr7:108950385-108950386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190432602	chr7:108950407-108950408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565203907	chr7:108950410-108950411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527566984	chr7:108950411-108950412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538613500	chr7:108950417-108950418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547584295	chr7:108950453-108950454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538443214	chr7:108950473-108950474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557147766	chr7:108950475-108950476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183023651	chr7:108950551-108950552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549167672	chr7:108950564-108950565	Weak transcription	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108949400-108949800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:108949800-108951600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:108963000-108963600	Enhancers	Gastric	stomach
4	chr7:108983200-108983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:108983200-108983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:108985400-108986000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:109001800-109002200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:109012000-109013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:109015000-109017800	Enhancers	Fetal Intestine Small	intestine
10	chr7:109016000-109016400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:109016200-109016600	Enhancers	Fetal Heart	heart
12	chr7:109016400-109019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:109016600-109018200	Enhancers	Liver	Liver
14	chr7:109017200-109017600	Enhancers	Pancreas	Pancrea
15	chr7:109017800-109019000	Weak transcription	Fetal Intestine Small	intestine
16	chr7:109018200-109018600	Weak transcription	Liver	Liver
17	chr7:109018600-109019600	Enhancers	Liver	Liver
18	chr7:109019000-109020000	Enhancers	Fetal Intestine Small	intestine
19	chr7:109019200-109020000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:109029600-109030000	Enhancers	Fetal Intestine Small	intestine

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