Variant report

Variant	nsv818956
Chromosome Location	chr13:38131993-38153351
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	BRCA1	chr13:38149873-38149917	HepG2	liver:	n/a	n/a
2	CEBPB	chr13:38134876-38135056	A549	lung:	n/a	chr13:38134942-38134953
3	CEBPB	chr13:38150768-38151050	A549	lung:	n/a	chr13:38150818-38150831 chr13:38150940-38150953 chr13:38150820-38150831 chr13:38150940-38150953
4	CEBPB	chr13:38134819-38135107	HepG2	liver:	n/a	chr13:38134942-38134953
5	CEBPB	chr13:38150757-38151053	HepG2	liver:	n/a	chr13:38150818-38150831 chr13:38150940-38150953 chr13:38150820-38150831 chr13:38150940-38150953
6	CEBPB	chr13:38134833-38135059	IMR90	lung:	n/a	chr13:38134942-38134953
7	CTCF	chr13:38137980-38138130	HMEC	breast:	n/a	n/a
8	CTCF	chr13:38137880-38138030	BJ	skin:	n/a	n/a
9	CTCF	chr13:38137900-38138050	AG04449	skin:	n/a	n/a
10	CTCF	chr13:38137900-38138050	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr13:38137880-38138030	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr13:38137920-38138070	HVMF	connective:	n/a	n/a
13	CTCF	chr13:38137920-38138070	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr13:38137900-38138050	HMF	breast:	n/a	n/a
15	CTCF	chr13:38134622-38134650	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr13:38137880-38138030	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr13:38137791-38138102	IMR90	lung:	n/a	n/a
18	CTCF	chr13:38137800-38137950	AG04450	lung:	n/a	n/a
19	CTCF	chr13:38137880-38138030	HMEC	breast:	n/a	n/a
20	CTCF	chr13:38137920-38138070	HCFaa	heart:	n/a	n/a
21	CTCF	chr13:38137900-38138050	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr13:38137880-38138030	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr13:38137860-38138010	AG10803	skin:	n/a	n/a
24	CTCF	chr13:38137920-38138070	AG09319	gingival:	n/a	n/a
25	CTCF	chr13:38134146-38134204	LNCaP	prostate:	n/a	n/a
26	CTCF	chr13:38137860-38138010	AG04450	lung:	n/a	n/a
27	CTCF	chr13:38137880-38138030	HMF	breast:	n/a	n/a
28	CTCF	chr13:38137880-38138030	AG04449	skin:	n/a	n/a
29	CTCF	chr13:38137800-38137950	HCM	heart:	n/a	n/a
30	CUX1	chr13:38142255-38142333	GM12878	blood:	n/a	n/a
31	E2F4	chr13:38145482-38145781	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr13:38150690-38150939	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr13:38145530-38145771	MCF10A-Er-Src	breast:	n/a	chr13:38145682-38145690
34	FOS	chr13:38135303-38135541	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr13:38135305-38135469	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr13:38150688-38151006	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr13:38150676-38151082	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr13:38135423-38135468	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr13:38150697-38151045	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr13:38145633-38145826	MCF10A-Er-Src	breast:	n/a	chr13:38145682-38145690
41	FOS	chr13:38145633-38145753	MCF10A-Er-Src	breast:	n/a	chr13:38145682-38145690
42	FOS	chr13:38150728-38151022	MCF10A-Er-Src	breast:	n/a	n/a
43	GATA3	chr13:38148968-38149376	SK-N-SH	brain:	n/a	chr13:38149245-38149252
44	GATA3	chr13:38144854-38145127	SH-SY5Y	brain:	n/a	n/a
45	MAFF	chr13:38139644-38139792	K562	blood:	n/a	n/a
46	MAFF	chr13:38139611-38139914	HepG2	liver:	n/a	n/a
47	MAFK	chr13:38139628-38139883	HepG2	liver:	n/a	n/a
48	MAFK	chr13:38139590-38139939	HepG2	liver:	n/a	n/a
49	MAFK	chr13:38139607-38139895	IMR90	lung:	n/a	n/a
50	MAX	chr13:38151341-38151561	NB4	blood:	n/a	chr13:38151467-38151477 chr13:38151467-38151476 chr13:38151467-38151474 chr13:38151463-38151478

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38147936..38149837-chr13:38348790..38351640,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPC4-2	chr13:38136834-38137507	NONHSAT033251
2	lnc-TRPC4-2	chr13:38138656-38139140	NONHSAT033251

Variant related genes	Relation type
POSTN	TF binding region

Extended variants
information (count: 789 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563145665	chr13:38132415-38132416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548795491	chr13:38132442-38132443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189866584	chr13:38132456-38132457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549574577	chr13:38132462-38132463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548564215	chr13:38132492-38132493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4522295	chr13:38132510-38132511	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116173758	chr13:38132516-38132517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551314927	chr13:38132557-38132558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571392784	chr13:38132614-38132615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs373469971	chr13:38132641-38132642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138532210	chr13:38132663-38132664	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115085308	chr13:38132666-38132667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs536694323	chr13:38132667-38132668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553385457	chr13:38132698-38132699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182133119	chr13:38132739-38132740	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539105272	chr13:38132746-38132747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556539886	chr13:38132748-38132749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558897241	chr13:38132784-38132785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571507442	chr13:38132798-38132799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs575752900	chr13:38132873-38132874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188063048	chr13:38132880-38132881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs9547948	chr13:38132903-38132904	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61957468	chr13:38132914-38132915	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149146563	chr13:38132942-38132943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571115115	chr13:38132991-38132992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs61957469	chr13:38133006-38133007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9603225	chr13:38133018-38133019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61957470	chr13:38133049-38133050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534398620	chr13:38133109-38133110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9547949	chr13:38133110-38133111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143231378	chr13:38133113-38133114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529992327	chr13:38133122-38133123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117223520	chr13:38133123-38133124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566834564	chr13:38133146-38133147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538766083	chr13:38133160-38133161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75914523	chr13:38133172-38133173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569248758	chr13:38133195-38133196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371100593	chr13:38133237-38133238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183556333	chr13:38133241-38133242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146184792	chr13:38133298-38133299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554729562	chr13:38133299-38133300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574823216	chr13:38133338-38133339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540497496	chr13:38133342-38133343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541017259	chr13:38133356-38133357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7324196	chr13:38133369-38133370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141442436	chr13:38133412-38133413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4943518	chr13:38133463-38133464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188603337	chr13:38133464-38133465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137986033	chr13:38133509-38133510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11617567	chr13:38133517-38133518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38132400-38132600	ZNF genes & repeats	Fetal Kidney	kidney
2	chr13:38132400-38133000	ZNF genes & repeats	Fetal Lung	lung
3	chr13:38132600-38132800	Weak transcription	Fetal Kidney	kidney
4	chr13:38132800-38135600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:38133000-38135800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:38133000-38138600	Weak transcription	Fetal Lung	lung
7	chr13:38133200-38135200	Weak transcription	Osteobl	bone
8	chr13:38133400-38154800	Weak transcription	Fetal Stomach	stomach
9	chr13:38133800-38138000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:38134000-38149600	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:38134000-38153800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:38134200-38135600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:38134600-38143600	Weak transcription	Placenta	Placenta
14	chr13:38135000-38135800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:38135000-38136600	Weak transcription	NH-A	brain
16	chr13:38135200-38135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:38135200-38135800	Enhancers	NHEK	skin
18	chr13:38135200-38168800	Strong transcription	Osteobl	bone
19	chr13:38135400-38135800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:38135600-38139200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:38135600-38165400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:38135800-38145600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:38136600-38137600	Strong transcription	NH-A	brain
24	chr13:38137600-38141600	Weak transcription	NH-A	brain
25	chr13:38138000-38145600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr13:38138600-38140800	Strong transcription	Fetal Lung	lung
27	chr13:38139000-38171000	Weak transcription	Fetal Kidney	kidney
28	chr13:38139200-38140600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:38139400-38153200	Weak transcription	NHLF	lung
30	chr13:38140600-38142200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:38140800-38143600	Weak transcription	Fetal Lung	lung
32	chr13:38141600-38142400	Strong transcription	NH-A	brain
33	chr13:38142200-38143400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:38142200-38160200	Weak transcription	Left Ventricle	heart
35	chr13:38142400-38147200	Weak transcription	NH-A	brain
36	chr13:38143400-38166000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:38143600-38146400	Strong transcription	Fetal Lung	lung
38	chr13:38143600-38146800	Strong transcription	Placenta	Placenta
39	chr13:38144600-38155400	Weak transcription	NHDF-Ad	bronchial
40	chr13:38145400-38146200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:38145600-38147400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:38145600-38148800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr13:38146200-38161200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr13:38146400-38148400	Weak transcription	Fetal Lung	lung
45	chr13:38146600-38162000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:38146800-38149200	Weak transcription	Placenta	Placenta
47	chr13:38147200-38148200	Strong transcription	NH-A	brain
48	chr13:38147400-38147800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:38147800-38148000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:38148000-38167000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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