Variant report

Variant	nsv976226
Chromosome Location	chr13:63307245-63441618
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	BHLHE40	chr13:63321881-63322081	HepG2	liver:	n/a	n/a
2	CEBPB	chr13:63322272-63322576	HepG2	liver:	n/a	chr13:63322373-63322382 chr13:63322371-63322382
3	CEBPB	chr13:63432074-63432428	HepG2	liver:	n/a	chr13:63432246-63432257
4	CEBPB	chr13:63345100-63345369	A549	lung:	n/a	chr13:63345274-63345285
5	CEBPB	chr13:63345122-63345399	IMR90	lung:	n/a	chr13:63345274-63345285
6	CEBPB	chr13:63322255-63322610	IMR90	lung:	n/a	chr13:63322373-63322382 chr13:63322371-63322382
7	CEBPB	chr13:63432076-63432444	Hela-S3	cervix:	n/a	chr13:63432246-63432257
8	CEBPB	chr13:63342444-63342551	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr13:63411996-63412388	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr13:63420304-63420618	IMR90	lung:	n/a	chr13:63420421-63420434
11	CEBPB	chr13:63345104-63345397	HepG2	liver:	n/a	chr13:63345274-63345285
12	CEBPB	chr13:63396473-63396780	HepG2	liver:	n/a	chr13:63396623-63396634 chr13:63396594-63396605 chr13:63396592-63396603 chr13:63396625-63396636 chr13:63396625-63396634 chr13:63396589-63396606
13	CEBPB	chr13:63345098-63345406	Hela-S3	cervix:	n/a	chr13:63345274-63345285
14	CEBPB	chr13:63378022-63378232	HepG2	liver:	n/a	chr13:63378135-63378148 chr13:63378136-63378147 chr13:63378134-63378151 chr13:63378135-63378148
15	CEBPB	chr13:63432068-63432403	A549	lung:	n/a	chr13:63432246-63432257
16	CEBPB	chr13:63412008-63412411	IMR90	lung:	n/a	n/a
17	CEBPB	chr13:63432074-63432425	IMR90	lung:	n/a	chr13:63432246-63432257
18	CTCF	chr13:63430442-63430514	GM10266	blood:	n/a	n/a
19	CTCF	chr13:63345920-63346070	HPF	lung:	n/a	n/a
20	CTCF	chr13:63346020-63346170	HCT-116	colon:	n/a	n/a
21	CTCF	chr13:63406489-63406539	LNCaP	prostate:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
22	CTCF	chr13:63346020-63346170	BE2_C	brain:	n/a	n/a
23	CTCF	chr13:63437640-63437679	GM20000	blood:	n/a	n/a
24	CTCF	chr13:63346020-63346170	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr13:63406478-63406513	MCF-7	breast:	n/a	n/a
26	CTCF	chr13:63406380-63406530	BJ	skin:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
27	CTCF	chr13:63406400-63406550	NHDF-neo	bronchial:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
28	CTCF	chr13:63348090-63348156	ProgFib	skin:	n/a	n/a
29	CTCF	chr13:63406460-63406610	NHDF-neo	bronchial:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
30	CTCF	chr13:63318470-63318588	LNCaP	prostate:	n/a	n/a
31	CTCF	chr13:63406480-63406630	MCF-7	breast:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
32	CTCF	chr13:63346000-63346150	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr13:63436779-63436866	Lung_OC	lung:	n/a	n/a
34	CTCF	chr13:63417940-63418090	HepG2	liver:	n/a	n/a
35	CTCF	chr13:63406477-63406547	Medullo	brain:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
36	CTCF	chr13:63406454-63406528	Gliobla	brain:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
37	CTCF	chr13:63406400-63406550	HCPEpiC	choroid plexus:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
38	CTCF	chr13:63378820-63378970	AG09319	gingival:	n/a	n/a
39	CTCF	chr13:63406500-63406582	LNCaP	prostate:	n/a	chr13:63406503-63406519 chr13:63406504-63406525 chr13:63406502-63406520
40	CUX1	chr13:63434210-63434277	K562	blood:	n/a	n/a
41	E2F4	chr13:63391572-63391684	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr13:63420510-63420875	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr13:63343401-63343836	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr13:63346267-63346524	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F4	chr13:63368576-63368776	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr13:63396101-63396107	MCF10A-Er-Src	breast:	n/a	n/a
47	ELK1	chr13:63405220-63405288	GM12878	blood:	n/a	n/a
48	EP300	chr13:63412979-63413335	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr13:63412738-63414129	SK-N-SH	brain:	n/a	chr13:63413783-63413791
50	FOS	chr13:63321793-63322109	MCF10A-Er-Src	breast:	n/a	chr13:63321943-63321955 chr13:63321943-63321954 chr13:63321946-63321953 chr13:63321944-63321953

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97173416..97174286-chr13:63349578..63350296,2	MCF-7	breast:
2	chr13:63305859..63307828-chr13:63368512..63371200,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-4	chr13:63370693-63370823	XLOC_010638
2	lnc-PCDH20-18	chr13:63311204-63311359	ucscGeneNc_uc010aeh_1
3	lnc-PCDH20-4	chr13:63321841-63322054	NONHSAT034155
4	lnc-PCDH20-4	chr13:63368629-63368704	XLOC_010638
5	lnc-PCDH20-18	chr13:63311883-63313757	ucscGeneNc_uc010aeh_1
6	lnc-PCDH20-18	chr13:63315448-63316259	ucscGeneNc_uc010aeh_1
7	lnc-PCDH20-4	chr13:63321740-63322054	XLOC_010638
8	lnc-PCDH20-4	chr13:63368629-63368706	NONHSAT034155

Variant related genes	Relation type
LINC00448	TF binding region
ENSG00000095637	chromatin interactions
ENSG00000228669	chromatin interactions

Extended variants
information (count: 884 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:884 , 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	rs185819946	chr13:63307896-63307897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73493469	chr13:63307897-63307898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553489877	chr13:63308010-63308011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374640726	chr13:63308014-63308015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532311909	chr13:63308019-63308020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571964163	chr13:63308025-63308026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138606460	chr13:63308034-63308035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543832808	chr13:63310054-63310055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs116811846	chr13:63310073-63310074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372358195	chr13:63310094-63310095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559938268	chr13:63310142-63310143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376341659	chr13:63310203-63310204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369635545	chr13:63310206-63310207	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528695836	chr13:63310214-63310215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574280065	chr13:63310216-63310217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541323583	chr13:63310243-63310244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111328498	chr13:63311210-63311211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs139188483	chr13:63311221-63311222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs377636629	chr13:63311233-63311234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568912395	chr13:63311322-63311323	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548560773	chr13:63311908-63311909	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs183336400	chr13:63311911-63311912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs7994086	chr13:63311925-63311926	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372561861	chr13:63311993-63311994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs529876314	chr13:63312020-63312021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs548351335	chr13:63312025-63312026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs144783593	chr13:63312035-63312036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528540484	chr13:63312041-63312042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546594598	chr13:63312076-63312077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs187562436	chr13:63312161-63312162	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs538635967	chr13:63312162-63312163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs557414909	chr13:63312211-63312212	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs569508981	chr13:63312219-63312220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs190746864	chr13:63312270-63312271	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs555109697	chr13:63312298-63312299	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs74986659	chr13:63312305-63312306	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs529907688	chr13:63312337-63312338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs146683789	chr13:63312350-63312351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs576960461	chr13:63312374-63312375	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs140312108	chr13:63312396-63312397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs562674909	chr13:63312524-63312525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546227743	chr13:63312532-63312533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs117285971	chr13:63312536-63312537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs370508551	chr13:63312551-63312552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541683015	chr13:63312618-63312619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs145214122	chr13:63312636-63312637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs528574516	chr13:63312666-63312667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs182224246	chr13:63312667-63312668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs367761009	chr13:63312742-63312743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs571402262	chr13:63312747-63312748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63321200-63321600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:63341800-63342000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:63341800-63342000	Enhancers	Gastric	stomach
4	chr13:63350200-63351000	Enhancers	Brain Hippocampus Middle	brain
5	chr13:63352800-63354200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:63353000-63354000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:63353000-63354200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:63353400-63354200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:63353400-63354400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:63362800-63363000	Enhancers	Adipose Nuclei	Adipose
11	chr13:63363000-63366600	Weak transcription	Adipose Nuclei	Adipose
12	chr13:63366600-63367000	Enhancers	Adipose Nuclei	Adipose
13	chr13:63373000-63373200	Enhancers	Adipose Nuclei	Adipose
14	chr13:63373200-63374000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr13:63373200-63375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:63374000-63374200	Active TSS	Adipose Nuclei	Adipose
17	chr13:63375000-63375200	Enhancers	Adipose Nuclei	Adipose
18	chr13:63399800-63400200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:63400400-63401600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:63412000-63412200	Enhancers	Hela-S3	cervix
21	chr13:63413000-63413800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr13:63420000-63421400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:63420600-63421000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:63427200-63428200	Enhancers	Dnd41	blood
25	chr13:63431800-63432200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:63431800-63432400	Enhancers	Adipose Nuclei	Adipose

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