Variant report

Variant	nsv1040025
Chromosome Location	chr13:62424786-62508101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:62455092-62455212	ProgFib	skin:	n/a	n/a
2	CTCF	chr13:62455040-62455190	GM06990	blood:	n/a	n/a
3	CTCF	chr13:62455080-62455230	GM12870	blood:	n/a	n/a
4	CTCF	chr13:62455100-62455250	GM12870	blood:	n/a	n/a
5	CTCF	chr13:62455080-62455230	GM12872	blood:	n/a	n/a
6	CTCF	chr13:62455061-62455234	A549	lung:	n/a	n/a
7	CTCF	chr13:62455020-62455220	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr13:62455060-62455210	BE2_C	brain:	n/a	n/a
9	CTCF	chr13:62455050-62455246	GM19239	blood:	n/a	n/a
10	CTCF	chr13:62455041-62455232	GM19240	blood:	n/a	n/a
11	CTCF	chr13:62455020-62455170	NHEK	skin:	n/a	n/a
12	CTCF	chr13:62454880-62455030	AG09319	gingival:	n/a	n/a
13	CTCF	chr13:62455022-62455261	LNCaP	prostate:	n/a	n/a
14	CTCF	chr13:62455060-62455210	GM12874	blood:	n/a	n/a
15	CTCF	chr13:62425000-62425150	AoAF	blood vessel:	n/a	n/a
16	CTCF	chr13:62455100-62455250	HCT-116	colon:	n/a	n/a
17	CTCF	chr13:62455040-62455190	HL-60	blood:	n/a	n/a
18	CTCF	chr13:62455040-62455190	GM12875	blood:	n/a	n/a
19	CTCF	chr13:62454967-62455242	HepG2	liver:	n/a	n/a
20	CTCF	chr13:62455080-62455230	GM12864	blood:	n/a	n/a
21	CTCF	chr13:62455069-62455220	MCF-7	breast:	n/a	n/a
22	CTCF	chr13:62455061-62455195	GM20000	blood:	n/a	n/a
23	CTCF	chr13:62455080-62455230	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr13:62455100-62455250	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr13:62455037-62455227	HepG2	liver:	n/a	n/a
26	CTCF	chr13:62455060-62455210	RPTEC	kidney:	n/a	n/a
27	CTCF	chr13:62455040-62455190	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr13:62455011-62455337	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr13:62455046-62455232	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr13:62455100-62455250	HEK293	kidney:	n/a	n/a
31	CTCF	chr13:62455049-62455218	K562	blood:	n/a	n/a
32	CTCF	chr13:62455043-62455230	GM10248	blood:	n/a	n/a
33	CTCF	chr13:62455049-62455254	GM19238	blood:	n/a	n/a
34	CTCF	chr13:62455080-62455230	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr13:62455080-62455230	HMF	breast:	n/a	n/a
36	CTCF	chr13:62455040-62455190	HPF	lung:	n/a	n/a
37	CTCF	chr13:62455100-62455250	HAc	cerebellar:	n/a	n/a
38	CTCF	chr13:62455025-62455267	Medullo	brain:	n/a	n/a
39	CTCF	chr13:62455080-62455230	NHEK	skin:	n/a	n/a
40	CTCF	chr13:62455060-62455210	HRE	kidney:	n/a	n/a
41	CTCF	chr13:62455080-62455230	SAEC	small airway:	n/a	n/a
42	CTCF	chr13:62455020-62455170	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr13:62455007-62455200	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr13:62455060-62455210	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr13:62455034-62455278	Gliobla	brain:	n/a	n/a
46	CTCF	chr13:62455100-62455250	HepG2	liver:	n/a	n/a
47	CTCF	chr13:62455040-62455190	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr13:62454777-62454874	GM10266	blood:	n/a	n/a
49	CTCF	chr13:62455027-62455324	MCF-7	breast:	n/a	n/a
50	CTCF	chr13:62455240-62455390	HFF-Myc	foreskin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:62454695..62455293-chr13:62527943..62528961,3	MCF-7	breast:
2	chr13:62454539..62455596-chr13:62527363..62528851,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270856	TF binding region

Extended variants
information (count: 885 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:885 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188769781	chr13:62431010-62431011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144928338	chr13:62431011-62431012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534637316	chr13:62431027-62431028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112620501	chr13:62431072-62431073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73488753	chr13:62431107-62431108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539824841	chr13:62431127-62431128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371341924	chr13:62431139-62431140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201947934	chr13:62431188-62431189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372211664	chr13:62431213-62431214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557931258	chr13:62431221-62431222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181673253	chr13:62431232-62431233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144702428	chr13:62431274-62431275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138519337	chr13:62431326-62431327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574376873	chr13:62431346-62431347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541790969	chr13:62431358-62431359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560090999	chr13:62431368-62431369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77880234	chr13:62431386-62431387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563205947	chr13:62431402-62431403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186244579	chr13:62431442-62431443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548892113	chr13:62431509-62431510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567166830	chr13:62431513-62431514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190995163	chr13:62431573-62431574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140256191	chr13:62431606-62431607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571218228	chr13:62431656-62431657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368194319	chr13:62431686-62431687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145852644	chr13:62431690-62431691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558153722	chr13:62431692-62431693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7332226	chr13:62431694-62431695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180779587	chr13:62431719-62431720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537591807	chr13:62431727-62431728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185821267	chr13:62431729-62431730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574236352	chr13:62431744-62431745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372307482	chr13:62431776-62431777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191122238	chr13:62431786-62431787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143738872	chr13:62431789-62431790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376409952	chr13:62431805-62431806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546772386	chr13:62431825-62431826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560050916	chr13:62431859-62431860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148169794	chr13:62431876-62431877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566562194	chr13:62431882-62431883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113030824	chr13:62431890-62431891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369718119	chr13:62431900-62431901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544659947	chr13:62431904-62431905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563332991	chr13:62431930-62431931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530514230	chr13:62431942-62431943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528953112	chr13:62431997-62431998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548781759	chr13:62432008-62432009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80316186	chr13:62432069-62432070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7996476	chr13:62432116-62432117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75491741	chr13:62432163-62432164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62431000-62432400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr13:62436400-62437200	Enhancers	Fetal Brain Male	brain
3	chr13:62437200-62439200	Weak transcription	Fetal Brain Male	brain
4	chr13:62439200-62439400	Enhancers	Fetal Brain Male	brain
5	chr13:62448600-62450800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:62455200-62455600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:62458600-62459400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:62464200-62465000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr13:62464400-62464800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:62464400-62465000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:62464600-62465000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:62470400-62470800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:62470800-62474400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:62473000-62473200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:62473200-62474000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:62473400-62474200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:62473800-62474400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:62474000-62475800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:62474200-62474400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:62474200-62475000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:62474200-62475000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr13:62474200-62475400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:62474200-62475600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:62474200-62475800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:62474400-62474600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr13:62474400-62474800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:62474400-62475400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr13:62474600-62474800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:62474600-62475000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:62474600-62475600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr13:62474800-62475000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr13:62475000-62475400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr13:62475000-62475800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:62475000-62476000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:62475000-62477000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:62475400-62475600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr13:62475600-62477200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr13:62477000-62477800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:62477200-62477800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
40	chr13:62477400-62477800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:62477800-62478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:62477800-62480600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr13:62481200-62481400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr13:62493000-62493200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:62493000-62493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:62495800-62496000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:62495800-62496200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:62501600-62502000	Enhancers	HUVEC	blood vessel
49	chr13:62502000-62502400	Flanking Active TSS	HUVEC	blood vessel

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