Variant report

Variant	nsv455961
Chromosome Location	chr13:69658976-69701292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:69680041-69680394	HepG2	liver:	n/a	chr13:69680205-69680216
2	CEBPB	chr13:69659461-69660073	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:69659890-69660227	A549	lung:	n/a	n/a
4	CTCF	chr13:69667076-69667403	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:69667160-69667310	GM06990	blood:	n/a	n/a
6	CTCF	chr13:69677220-69677370	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr13:69682765-69682880	Medullo	brain:	n/a	n/a
8	CTCF	chr13:69667140-69667290	NB4	blood:	n/a	n/a
9	CTCF	chr13:69667163-69667287	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr13:69680320-69680470	WI-38	lung:	n/a	n/a
11	CTCF	chr13:69667222-69667225	Medullo	brain:	n/a	n/a
12	CTCF	chr13:69667160-69667313	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr13:69667140-69667290	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr13:69667200-69667350	HepG2	liver:	n/a	n/a
15	CTCF	chr13:69680623-69680682	Fibrobl	skin:	n/a	n/a
16	CTCF	chr13:69667220-69667370	RPTEC	kidney:	n/a	n/a
17	CTCF	chr13:69667160-69667310	HEK293	kidney:	n/a	n/a
18	CTCF	chr13:69667160-69667310	HRE	kidney:	n/a	n/a
19	CTCF	chr13:69667140-69667290	GM12878	blood:	n/a	n/a
20	CTCF	chr13:69677180-69677330	BE2_C	brain:	n/a	n/a
21	CTCF	chr13:69667237-69667243	Medullo	brain:	n/a	n/a
22	CTCF	chr13:69666540-69666690	BE2_C	brain:	n/a	n/a
23	CTCF	chr13:69667160-69667310	BE2_C	brain:	n/a	n/a
24	CTCF	chr13:69667140-69667290	MCF-7	breast:	n/a	n/a
25	CTCF	chr13:69667010-69667385	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr13:69667208-69667258	MCF-7	breast:	n/a	n/a
27	CTCF	chr13:69667166-69667290	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:69667160-69667310	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr13:69667260-69667410	RPTEC	kidney:	n/a	n/a
30	CTCF	chr13:69667180-69667330	BE2_C	brain:	n/a	n/a
31	CTCF	chr13:69667144-69667318	MCF-7	breast:	n/a	n/a
32	CTCF	chr13:69667160-69667305	Gliobla	brain:	n/a	n/a
33	CTCF	chr13:69667128-69667390	GM12878	blood:	n/a	n/a
34	CTCF	chr13:69667160-69667310	Caco-2	colon:	n/a	n/a
35	CTCF	chr13:69667214-69667298	K562	blood:	n/a	n/a
36	CTCF	chr13:69659697-69659702	K562	blood:	n/a	n/a
37	CTCF	chr13:69667060-69667210	HCT-116	colon:	n/a	n/a
38	CTCF	chr13:69667193-69667309	HepG2	liver:	n/a	n/a
39	CTCF	chr13:69667197-69667299	GM12878	blood:	n/a	n/a
40	CTCF	chr13:69677225-69677404	Medullo	brain:	n/a	n/a
41	CTCF	chr13:69667040-69667190	A549	lung:	n/a	n/a
42	FOS	chr13:69685863-69685872	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr13:69699145-69699513	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr13:69699188-69699482	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr13:69699127-69699482	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr13:69699215-69699504	HUVEC	blood vessel:	n/a	n/a
47	FOS	chr13:69679764-69679943	MCF10A-Er-Src	breast:	n/a	chr13:69679884-69679891 chr13:69679884-69679893 chr13:69679882-69679894
48	FOS	chr13:69679770-69680018	MCF10A-Er-Src	breast:	n/a	chr13:69679884-69679891 chr13:69679884-69679893 chr13:69679882-69679894
49	FOS	chr13:69666854-69666879	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr13:69699175-69699482	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:69676877..69679728-chr13:69680148..69683095,2	K562	blood:
2	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:
3	chr13:69682184..69685154-chr13:69690217..69692966,2	MCF-7	breast:
4	chr13:69676877..69679728-chr13:69680148..69683095,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL1-7	chr13:69675964-69676188	NONHSAT034240

No data

Variant related genes	Relation type
SNRPFP3	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34287836	chr13:69659201-69659202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139499209	chr13:69659216-69659217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545770478	chr13:69659221-69659222	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372736838	chr13:69659222-69659223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527525533	chr13:69659223-69659224	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547099762	chr13:69659248-69659249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115022110	chr13:69659253-69659254	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12872177	chr13:69659254-69659255	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143417787	chr13:69659262-69659263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114512593	chr13:69659264-69659265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376791642	chr13:69659293-69659294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147173335	chr13:69659313-69659314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543394027	chr13:69659314-69659315	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555289534	chr13:69659335-69659336	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112734864	chr13:69659348-69659349	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115061600	chr13:69659351-69659352	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192639547	chr13:69659369-69659370	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183525346	chr13:69659370-69659371	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76239233	chr13:69659387-69659388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114076329	chr13:69659407-69659408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577166290	chr13:69659414-69659415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528962257	chr13:69659417-69659418	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576037369	chr13:69659429-69659430	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs541750614	chr13:69659433-69659434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs575153784	chr13:69659434-69659435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142173411	chr13:69659436-69659437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541200425	chr13:69659441-69659442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs9599393	chr13:69659442-69659443	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532612222	chr13:69659443-69659444	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs76987511	chr13:69659462-69659463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569154582	chr13:69659480-69659481	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs187816523	chr13:69659481-69659482	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548585385	chr13:69659494-69659495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541909544	chr13:69659497-69659498	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs61213353	chr13:69659498-69659499	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534241367	chr13:69659504-69659505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527394167	chr13:69659514-69659515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs151187604	chr13:69659516-69659517	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570715579	chr13:69659526-69659527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs9541751	chr13:69659540-69659541	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556267731	chr13:69659558-69659559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs9541752	chr13:69659598-69659599	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541837455	chr13:69659604-69659605	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555090747	chr13:69659628-69659629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs531184361	chr13:69659634-69659635	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570859532	chr13:69659636-69659637	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs552197272	chr13:69659637-69659638	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199620026	chr13:69659642-69659643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564225234	chr13:69659652-69659653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533208437	chr13:69659654-69659655	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69659200-69659800	Active TSS	Fetal Heart	heart
2	chr13:69666600-69667800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr13:69666800-69667800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:69667000-69667600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:69683600-69684400	Enhancers	HMEC	breast
6	chr13:69683800-69684400	Enhancers	H1 Cell Line	embryonic stem cell

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