Variant report

Variant	nsv900443
Chromosome Location	chr13:69226649-69249927
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	BATF	chr13:69240994-69241236	GM12878	blood:	n/a	n/a
2	CEBPB	chr13:69228532-69228846	IMR90	lung:	n/a	chr13:69228659-69228670 chr13:69228661-69228672
3	CEBPB	chr13:69228540-69228837	K562	blood:	n/a	chr13:69228659-69228670 chr13:69228661-69228672
4	CEBPB	chr13:69228505-69228846	HepG2	liver:	n/a	chr13:69228659-69228670 chr13:69228661-69228672
5	CEBPB	chr13:69228553-69228762	A549	lung:	n/a	chr13:69228659-69228670 chr13:69228661-69228672
6	CEBPB	chr13:69228574-69228763	H1-hESC	embryonic stem cell:	n/a	chr13:69228659-69228670 chr13:69228661-69228672
7	E2F4	chr13:69231410-69231610	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr13:69233215-69233288	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr13:69226022-69226757	MCF-7	breast:	n/a	n/a
10	GATA3	chr13:69231430-69231619	SH-SY5Y	brain:	n/a	chr13:69231605-69231612 chr13:69231605-69231612 chr13:69231605-69231612
11	JUN	chr13:69247954-69248132	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUN	chr13:69228482-69228649	K562	blood:	n/a	n/a
13	MAZ	chr13:69244284-69244382	HepG2	liver:	n/a	n/a
14	MAZ	chr13:69231217-69231233	Hela-S3	cervix:	n/a	n/a
15	MYC	chr13:69247187-69247313	H1-hESC	embryonic stem cell:	n/a	n/a
16	PAX5	chr13:69240966-69241207	GM12878	blood:	n/a	chr13:69241100-69241119
17	PAX5	chr13:69240997-69241220	GM12892	blood:	n/a	chr13:69241100-69241119
18	PAX5	chr13:69240911-69241288	GM12878	blood:	n/a	chr13:69241100-69241119
19	PAX5	chr13:69240992-69241271	GM12878	blood:	n/a	chr13:69241100-69241119
20	PAX5	chr13:69240868-69241234	GM12878	blood:	n/a	chr13:69241100-69241119
21	PAX5	chr13:69240980-69241295	GM12891	blood:	n/a	chr13:69241100-69241119
22	PAX5	chr13:69241019-69241239	GM12891	blood:	n/a	chr13:69241100-69241119
23	POLR2A	chr13:69245612-69245812	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr13:69247469-69247590	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr13:69235391-69235724	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr13:69240530-69240730	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr13:69246984-69247148	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr13:69230543-69230616	MCF10A-Er-Src	breast:	n/a	chr13:69230558-69230566
29	STAT3	chr13:69230913-69231106	MCF10A-Er-Src	breast:	n/a	n/a
30	TAF7	chr13:69240127-69240269	K562	blood:	n/a	n/a
31	TBP	chr13:69239951-69240163	K562	blood:	n/a	n/a
32	TCF12	chr13:69225937-69226840	MCF-7	breast:	n/a	n/a
33	TCF12	chr13:69226097-69226652	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:69232704..69235680-chr13:69237810..69239831,2	K562	blood:
2	chr13:69232704..69235680-chr13:69237810..69239831,2	K562	blood:
3	chr13:69213639..69216422-chr13:69230531..69232946,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BORA-26	chr13:69228704-69229182	NONHSAT034236

Variant related genes	Relation type
RPL12P34	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8181870	chr13:69226649-69226650	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77659666	chr13:69226678-69226679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185826601	chr13:69226710-69226711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs533145089	chr13:69226752-69226753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550105689	chr13:69226779-69226780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571249669	chr13:69228483-69228484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs287382	chr13:69228533-69228534	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557089793	chr13:69228536-69228537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs287383	chr13:69228544-69228545	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536412802	chr13:69228607-69228608	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553013420	chr13:69228656-69228657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573119464	chr13:69228687-69228688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535020903	chr13:69228706-69228707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs370040234	chr13:69228730-69228731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs544958336	chr13:69228731-69228732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564178338	chr13:69228746-69228747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150184275	chr13:69228788-69228789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs543511639	chr13:69228834-69228835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs371466330	chr13:69228837-69228838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563398113	chr13:69228867-69228868	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200301506	chr13:69228869-69228870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs529482186	chr13:69228870-69228871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs549529814	chr13:69228871-69228872	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs189200741	chr13:69228881-69228882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs146819659	chr13:69228891-69228892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs79581330	chr13:69228915-69228916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs77277021	chr13:69228937-69228938	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs536999381	chr13:69228949-69228950	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs140565763	chr13:69228955-69228956	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs540662752	chr13:69228956-69228957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs191941182	chr13:69228965-69228966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs535943777	chr13:69228992-69228993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs17641312	chr13:69229036-69229037	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74666323	chr13:69229043-69229044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs138445127	chr13:69229078-69229079	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs116320200	chr13:69229097-69229098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs577622022	chr13:69229141-69229142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs383304	chr13:69229182-69229183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs189823202	chr13:69238826-69238827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374174631	chr13:69238835-69238836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs287352	chr13:69238845-69238846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552594083	chr13:69238890-69238891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372770301	chr13:69238913-69238914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538398926	chr13:69238921-69238922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185947	chr13:69238932-69238933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527300465	chr13:69238944-69238945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534926649	chr13:69247415-69247416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557733878	chr13:69247482-69247483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76910076	chr13:69247513-69247514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183202341	chr13:69247519-69247520	Enhancers	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
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69238800-69239000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:69247400-69247800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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