Variant report

Variant	nsv900923
Chromosome Location	chr13:94641894-94692925
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	ARID3A	chr13:94659474-94659559	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:94680735-94681036	HepG2	liver:	n/a	n/a
3	CEBPB	chr13:94680432-94680713	IMR90	lung:	n/a	chr13:94680650-94680661 chr13:94680649-94680660 chr13:94680651-94680660
4	CEBPB	chr13:94680393-94680859	HepG2	liver:	n/a	chr13:94680650-94680661 chr13:94680649-94680660 chr13:94680651-94680660
5	CEBPB	chr13:94680520-94680802	A549	lung:	n/a	chr13:94680650-94680661 chr13:94680649-94680660 chr13:94680651-94680660
6	CEBPB	chr13:94680485-94680702	H1-hESC	embryonic stem cell:	n/a	chr13:94680650-94680661 chr13:94680649-94680660 chr13:94680651-94680660
7	CEBPB	chr13:94676394-94676776	IMR90	lung:	n/a	chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676605-94676616
8	CEBPB	chr13:94676437-94676745	Hela-S3	cervix:	n/a	chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676605-94676616
9	CEBPB	chr13:94681031-94681051	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr13:94683924-94684180	IMR90	lung:	n/a	n/a
11	CEBPB	chr13:94686957-94687153	A549	lung:	n/a	chr13:94687097-94687106 chr13:94687096-94687107
12	CEBPB	chr13:94686939-94687233	HepG2	liver:	n/a	chr13:94687097-94687106 chr13:94687096-94687107
13	CEBPB	chr13:94676488-94676672	A549	lung:	n/a	chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676605-94676616
14	CEBPB	chr13:94646396-94646602	IMR90	lung:	n/a	chr13:94646577-94646588
15	CEBPB	chr13:94686957-94687162	IMR90	lung:	n/a	chr13:94687097-94687106 chr13:94687096-94687107
16	CEBPB	chr13:94680565-94680716	HepG2	liver:	n/a	chr13:94680650-94680661 chr13:94680649-94680660 chr13:94680651-94680660
17	CEBPB	chr13:94684018-94684169	HepG2	liver:	n/a	n/a
18	CEBPB	chr13:94661960-94662306	IMR90	lung:	n/a	n/a
19	CEBPB	chr13:94676380-94676777	HepG2	liver:	n/a	chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676606-94676615 chr13:94676605-94676616
20	CTCF	chr13:94683323-94683359	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr13:94683261-94683418	GM19239	blood:	n/a	n/a
22	CTCF	chr13:94673026-94673087	GM13976	blood:	n/a	chr13:94673026-94673033
23	CTCF	chr13:94683273-94683348	MCF-7	breast:	n/a	n/a
24	CTCF	chr13:94680840-94680990	HPAF	blood vessel:	n/a	n/a
25	E2F4	chr13:94683707-94683730	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr13:94665016-94665170	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr13:94646926-94647014	MCF10A-Er-Src	breast:	n/a	n/a
28	EP300	chr13:94686132-94686436	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr13:94685325-94685712	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr13:94673063-94673442	SK-N-SH_RA	brain:	n/a	chr13:94673300-94673309 chr13:94673299-94673308 chr13:94673280-94673289 chr13:94673281-94673290
31	EP300	chr13:94685368-94685723	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr13:94682873-94683370	SK-N-SH_RA	brain:	n/a	n/a
33	EP300	chr13:94684552-94687072	SK-N-SH	brain:	n/a	chr13:94686046-94686060 chr13:94686979-94686993
34	EP300	chr13:94686138-94686454	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr13:94682885-94683395	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr13:94672911-94673683	SK-N-SH	brain:	n/a	chr13:94673300-94673309 chr13:94673299-94673308 chr13:94673280-94673289 chr13:94673281-94673290
37	EP300	chr13:94672593-94673474	SK-N-SH_RA	brain:	n/a	chr13:94673300-94673309 chr13:94673299-94673308 chr13:94673280-94673289 chr13:94673281-94673290
38	EP300	chr13:94672896-94673640	SK-N-SH	brain:	n/a	chr13:94673300-94673309 chr13:94673299-94673308 chr13:94673280-94673289 chr13:94673281-94673290
39	ESR1	chr13:94658629-94658953	T-47D	breast:	n/a	n/a
40	ESR1	chr13:94658674-94658970	T-47D	breast:	n/a	n/a
41	FOS	chr13:94661990-94662289	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr13:94661976-94662341	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr13:94665807-94665976	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr13:94665712-94666165	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr13:94674302-94674460	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr13:94663366-94663523	MCF10A-Er-Src	breast:	n/a	chr13:94663451-94663461
47	FOS	chr13:94663343-94663560	MCF10A-Er-Src	breast:	n/a	chr13:94663451-94663461
48	FOS	chr13:94673053-94673586	MCF10A-Er-Src	breast:	n/a	chr13:94673281-94673289 chr13:94673298-94673310 chr13:94673299-94673309 chr13:94673280-94673289 chr13:94673301-94673308 chr13:94673300-94673308 chr13:94673281-94673288 chr13:94673299-94673308 chr13:94673300-94673309
49	FOS	chr13:94673068-94673781	MCF10A-Er-Src	breast:	n/a	chr13:94673281-94673289 chr13:94673298-94673310 chr13:94673299-94673309 chr13:94673280-94673289 chr13:94673301-94673308 chr13:94673300-94673308 chr13:94673281-94673288 chr13:94673299-94673308 chr13:94673300-94673309
50	FOS	chr13:94665731-94666064	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94692498..94694844-chr13:95254837..95257495,2	MCF-7	breast:
2	chr13:94661154..94662656-chr13:94694673..94696188,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP35	TF binding region

Extended variants
information (count: 1427 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9524302	chr13:94641894-94641895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542468067	chr13:94641920-94641921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555804803	chr13:94641929-94641930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150489765	chr13:94646006-94646007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118099707	chr13:94646044-94646045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116616157	chr13:94646057-94646058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572139160	chr13:94646064-94646065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9524304	chr13:94646086-94646087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181352480	chr13:94646124-94646125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114473866	chr13:94646131-94646132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115572707	chr13:94646134-94646135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564673177	chr13:94646153-94646154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569359199	chr13:94646164-94646165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557965401	chr13:94646167-94646168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74109178	chr13:94646186-94646187	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549048773	chr13:94646247-94646248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138268687	chr13:94646304-94646305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74109179	chr13:94646315-94646316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115739232	chr13:94648603-94648604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570079627	chr13:94648640-94648641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541291503	chr13:94648683-94648684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376937196	chr13:94648738-94648739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116173904	chr13:94648766-94648767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185351825	chr13:94648786-94648787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77966142	chr13:94648825-94648826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576706317	chr13:94648840-94648841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536045687	chr13:94648858-94648859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189832936	chr13:94648868-94648869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572689798	chr13:94648877-94648878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541506187	chr13:94648903-94648904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564596488	chr13:94648906-94648907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558103870	chr13:94648916-94648917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182783639	chr13:94654032-94654033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9524308	chr13:94654053-94654054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574106547	chr13:94654060-94654061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577883936	chr13:94654101-94654102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9301923	chr13:94654108-94654109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9284277	chr13:94654146-94654147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577348133	chr13:94654155-94654156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543335459	chr13:94654209-94654210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546115960	chr13:94654252-94654253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563172414	chr13:94654368-94654369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188839642	chr13:94654386-94654387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576657654	chr13:94654460-94654461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578038214	chr13:94654468-94654469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374260928	chr13:94654488-94654489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542352364	chr13:94654536-94654537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115091145	chr13:94654554-94654555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74109187	chr13:94654612-94654613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565297284	chr13:94654643-94654644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94641400-94642000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:94641400-94642000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:94641600-94642000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:94646000-94646400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:94648600-94649000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:94654000-94654200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:94654000-94654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:94654000-94654600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:94654200-94654400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:94654200-94663000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:94654400-94661600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:94657800-94658600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:94658200-94658800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:94658600-94658800	Enhancers	Pancreas	Pancrea
15	chr13:94658600-94659200	Enhancers	Ovary	ovary
16	chr13:94658600-94661600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:94658800-94663800	Weak transcription	Pancreas	Pancrea
18	chr13:94659200-94659600	Weak transcription	Ovary	ovary
19	chr13:94659600-94659800	Enhancers	Ovary	ovary
20	chr13:94659800-94663800	Weak transcription	Ovary	ovary
21	chr13:94661600-94661800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:94661600-94662200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:94661600-94662200	Enhancers	NH-A	brain
24	chr13:94661600-94662600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:94661600-94662600	Enhancers	HSMM	muscle
26	chr13:94661600-94662600	Enhancers	Osteobl	bone
27	chr13:94661600-94662800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:94661600-94664400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:94661800-94662200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:94661800-94662400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:94661800-94662400	Enhancers	NHDF-Ad	bronchial
32	chr13:94661800-94663000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:94662200-94662600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:94662600-94663600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:94662600-94663600	Weak transcription	Osteobl	bone
36	chr13:94662600-94664200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:94662600-94665800	Weak transcription	HSMM	muscle
38	chr13:94662800-94663800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:94663000-94663400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:94663400-94664200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:94663600-94663800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:94663600-94664000	Enhancers	Osteobl	bone
43	chr13:94663800-94664000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:94663800-94664000	Enhancers	Pancreas	Pancrea
45	chr13:94663800-94664200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:94663800-94664800	Enhancers	Ovary	ovary
47	chr13:94664000-94664800	Weak transcription	Osteobl	bone
48	chr13:94664200-94665800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:94664200-94666800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr13:94664200-94672600	Weak transcription	Muscle Satellite Cultured Cells	--

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