Variant report

Variant	nsv1053550
Chromosome Location	chr13:55347950-55406542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:55359233-55359313	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr13:55396320-55396470	BE2_C	brain:	n/a	n/a
3	CTCF	chr13:55373780-55373930	GM12866	blood:	n/a	n/a
4	CTCF	chr13:55363128-55363165	Lung_OC	lung:	n/a	n/a
5	CTCF	chr13:55361132-55361233	GM10248	blood:	n/a	n/a
6	CTCF	chr13:55403091-55403172	GM10248	blood:	n/a	n/a
7	CTCF	chr13:55396444-55396546	Medullo	brain:	n/a	n/a
8	CTCF	chr13:55383820-55383970	Caco-2	colon:	n/a	n/a
9	E2F4	chr13:55370694-55370962	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr13:55396200-55396406	T-47D	breast:	n/a	n/a
11	JUND	chr13:55359285-55359632	HepG2	liver:	n/a	chr13:55359462-55359471
12	KAP1	chr13:55370002-55370613	K562	blood:	n/a	n/a
13	MAFK	chr13:55396818-55396893	HepG2	liver:	n/a	n/a
14	MAZ	chr13:55362179-55362270	HepG2	liver:	n/a	n/a
15	MYC	chr13:55348848-55348954	MCF-7	breast:	n/a	n/a
16	MYC	chr13:55361230-55361345	GM12878	blood:	n/a	n/a
17	MYC	chr13:55361972-55362047	MCF-7	breast:	n/a	n/a
18	MYC	chr13:55362054-55362169	MCF-7	breast:	n/a	n/a
19	NFYB	chr13:55361330-55361751	GM12878	blood:	n/a	n/a
20	NFYB	chr13:55361291-55361682	K562	blood:	n/a	n/a
21	NFYB	chr13:55402889-55403359	K562	blood:	n/a	n/a
22	NRF1	chr13:55382097-55382108	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:55349939-55349986	MCF-7	breast:	n/a	n/a
24	POLR2A	chr13:55350081-55350095	MCF-7	breast:	n/a	n/a
25	POLR2A	chr13:55395056-55395110	GM12878	blood:	n/a	n/a
26	POLR2A	chr13:55352396-55352400	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr13:55348821-55348930	MCF-7	breast:	n/a	n/a
28	POLR2A	chr13:55350056-55350080	MCF-7	breast:	n/a	n/a
29	POLR2A	chr13:55362029-55362169	MCF-7	breast:	n/a	n/a
30	POLR2A	chr13:55380818-55380823	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr13:55362058-55362133	MCF-7	breast:	n/a	n/a
32	POLR2A	chr13:55387866-55388066	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr13:55377161-55377294	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr13:55406287-55406487	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr13:55349915-55349923	MCF-7	breast:	n/a	n/a
36	POLR2A	chr13:55355391-55355459	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr13:55396960-55396992	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr13:55394616-55394698	GM12878	blood:	n/a	n/a
39	POLR2A	chr13:55349865-55349934	MCF-7	breast:	n/a	n/a
40	POLR2A	chr13:55376358-55376534	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr13:55349949-55349956	MCF-7	breast:	n/a	n/a
42	POLR2A	chr13:55388877-55389006	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr13:55349994-55350018	MCF-7	breast:	n/a	n/a
44	POLR2A	chr13:55389634-55389699	GM12878	blood:	n/a	n/a
45	POLR2A	chr13:55405725-55405794	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr13:55377080-55377106	ProgFib	skin:	n/a	n/a
47	POLR2A	chr13:55362145-55362146	MCF-7	breast:	n/a	n/a
48	RAD21	chr13:55396355-55396708	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr13:55368999-55369171	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr13:55396405-55396637	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:55373912-55373962	Hela-S3	cervix:	n/a
2	chr13:55373912-55373962	HNPCEpiC	eye:	n/a
3	chr13:55373912-55373962	PrEC	prostate:	n/a
4	chr13:55373912-55373962	NB4	blood:	n/a
5	chr13:55373912-55373962	SKMC	muscle:	n/a
6	chr13:55373912-55373962	AG04450	lung:	fetal
7	chr13:55373912-55373962	HCM	heart:	n/a
8	chr13:55373912-55373962	HepG2	liver:	n/a
9	chr13:55373388-55373438	HUVEC	blood vessel:	n/a
10	chr13:55373912-55373962	HL-60	blood:	n/a
11	chr13:55373388-55373438	NHDF-neo	bronchial:	n/a
12	chr13:55373388-55373438	HCPEpiC	choroid plexus:	n/a
13	chr13:55373912-55373962	SK-N-MC	brain:	n/a
14	chr13:55373388-55373438	SK-N-SH	brain:	n/a
15	chr13:55373912-55373962	GM12891	blood:	n/a
16	chr13:55373912-55373962	SK-N-SH	brain:	n/a
17	chr13:55373388-55373438	HL-60	blood:	n/a
18	chr13:55373912-55373962	K562	blood:	n/a
19	chr13:55373388-55373438	SK-N-SH_RA	brain:	n/a
20	chr13:55373388-55373438	HNPCEpiC	eye:	n/a
21	chr13:55373912-55373962	MCF-7	breast:	n/a
22	chr13:55373388-55373438	PrEC	prostate:	n/a
23	chr13:55373912-55373962	HMEC	breast:	n/a
24	chr13:55373388-55373438	HPAEpiC	pulmonary alveolar:	n/a
25	chr13:55373388-55373438	HIPEpiC	eye:	n/a
26	chr13:55373388-55373438	AG09319	gingival:	n/a
27	chr13:55373388-55373438	CMK	blood:	n/a
28	chr13:55373388-55373438	HCF	heart:	n/a
29	chr13:55373912-55373962	PFSK-1	brain:	n/a
30	chr13:55373388-55373438	MCF-7	breast:	n/a
31	chr13:55373912-55373962	NHBE	bronchial:	n/a
32	chr13:55373912-55373962	SAEC	small airway:	n/a
33	chr13:55373912-55373962	HRCEpiC	kidney:	n/a
34	chr13:55373388-55373438	SKMC	muscle:	n/a
35	chr13:55373388-55373438	BJ	skin:	n/a
36	chr13:55373912-55373962	HRE	kidney:	n/a
37	chr13:55373912-55373962	IMR90	lung:	fetal
38	chr13:55373388-55373438	HepG2	liver:	n/a
39	chr13:55373912-55373962	HCT-116	colon:	n/a
40	chr13:55373912-55373962	NT2-D1	testis:	n/a
41	chr13:55373388-55373438	SAEC	small airway:	n/a
42	chr13:55373912-55373962	HPAEpiC	pulmonary alveolar:	n/a
43	chr13:55373388-55373438	U87	brain:	n/a
44	chr13:55373388-55373438	Hepatocyte	liver:	n/a
45	chr13:55373912-55373962	HEEpiC	esophagus:	n/a
46	chr13:55373388-55373438	AG10803	skin:	n/a
47	chr13:55373388-55373438	K562	blood:	n/a
48	chr13:55373912-55373962	AG09319	gingival:	n/a
49	chr13:55373388-55373438	H1-hESC	embryonic stem cell:	embryo
50	chr13:55373388-55373438	PANC-1	pancreas:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:55372674..55374590-chr7:122830546..122833222,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-12	chr13:55361374-55361452	NONHSAT034035
2	lnc-OLFM4-12	chr13:55359420-55359736	NONHSAT034035

No data

Variant related genes	Relation type
ENSG00000266699	TF binding region
ENSG00000266699	CpG island

Extended variants
information (count: 960 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:960 , 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	rs569445850	chr13:55348805-55348806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35618115	chr13:55348880-55348881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs187137336	chr13:55348885-55348886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191632726	chr13:55348888-55348889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs551379563	chr13:55348901-55348902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571227499	chr13:55348902-55348903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533790788	chr13:55348910-55348911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553856410	chr13:55348917-55348918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540368887	chr13:55348930-55348931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs567364717	chr13:55348932-55348933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536049231	chr13:55348937-55348938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs150419391	chr13:55349016-55349017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576236392	chr13:55349025-55349026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs545322354	chr13:55349052-55349053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs116974721	chr13:55349075-55349076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184489900	chr13:55349106-55349107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138158933	chr13:55349110-55349111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560201065	chr13:55349170-55349171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs77502824	chr13:55349197-55349198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs143810029	chr13:55349218-55349219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563130634	chr13:55349231-55349232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs573963327	chr13:55349282-55349283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531826809	chr13:55349307-55349308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147334512	chr13:55349314-55349315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139338938	chr13:55349359-55349360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs527242680	chr13:55349365-55349366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs188381912	chr13:55349480-55349481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs193025607	chr13:55349521-55349522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs374871815	chr13:55349579-55349580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567248141	chr13:55349580-55349581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536376250	chr13:55349595-55349596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs143259635	chr13:55349597-55349598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12876250	chr13:55349621-55349622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144787502	chr13:55349637-55349638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374862625	chr13:55349666-55349667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185613049	chr13:55349689-55349690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558386243	chr13:55349709-55349710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572045751	chr13:55349761-55349762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533927789	chr13:55349762-55349763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs554163993	chr13:55349764-55349765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116367624	chr13:55349768-55349769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563203127	chr13:55349850-55349851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543071504	chr13:55349881-55349882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs76920299	chr13:55349887-55349888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190517319	chr13:55349888-55349889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576532306	chr13:55349920-55349921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs148549257	chr13:55349930-55349931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114035252	chr13:55349966-55349967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs35973722	chr13:55349996-55349997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs142434988	chr13:55359444-55359445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55348800-55350000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:55362000-55362200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:55362000-55362200	ZNF genes & repeats	Pancreas	Pancrea
4	chr13:55362000-55362400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:55362400-55373600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:55373600-55374200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:55377000-55377600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:55381800-55382200	Enhancers	Adipose Nuclei	Adipose
9	chr13:55389000-55389800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:55389800-55395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:55392600-55396200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:55393600-55396000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:55396000-55396400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:55396000-55396400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:55396000-55396400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:55396200-55397000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:55403800-55404000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:55404000-55408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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