Variant report

Variant	nsv1051184
Chromosome Location	chr13:53928195-53956469
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	chr13:53931745-53932054	GM12878	blood:	n/a	n/a
2	BCL11A	chr13:53931787-53932029	GM12878	blood:	n/a	n/a
3	CEBPB	chr13:53930565-53930837	HepG2	liver:	n/a	chr13:53930701-53930712 chr13:53930701-53930714
4	CEBPB	chr13:53956163-53956639	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:53956256-53956305	GM12878	blood:	n/a	n/a
6	CTCF	chr13:53956220-53956370	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr13:53943174-53943418	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr13:53956270-53956354	HepG2	liver:	n/a	n/a
9	CTCF	chr13:53943161-53943418	Medullo	brain:	n/a	n/a
10	CTCF	chr13:53956217-53956481	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr13:53943122-53943379	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr13:53956307-53956358	Medullo	brain:	n/a	n/a
13	CTCF	chr13:53943222-53943334	MCF-7	breast:	n/a	n/a
14	CTCF	chr13:53943180-53943330	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr13:53943273-53943331	GM13977	blood:	n/a	n/a
16	CTCF	chr13:53956240-53956390	HepG2	liver:	n/a	n/a
17	CTCF	chr13:53943264-53943324	MCF-7	breast:	n/a	n/a
18	CTCF	chr13:53956189-53956472	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr13:53943226-53943326	GM12878	blood:	n/a	n/a
20	CTCF	chr13:53931440-53931590	GM12873	blood:	n/a	n/a
21	CTCF	chr13:53956240-53956390	HEK293	kidney:	n/a	n/a
22	CTCF	chr13:53943180-53943330	Caco-2	colon:	n/a	n/a
23	CTCF	chr13:53956240-53956390	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr13:53956240-53956390	Caco-2	colon:	n/a	n/a
25	EBF1	chr13:53931755-53932009	GM12878	blood:	n/a	n/a
26	EGR1	chr13:53931792-53932002	GM12878	blood:	n/a	chr13:53931919-53931933
27	EP300	chr13:53931843-53932042	GM12878	blood:	n/a	n/a
28	FAM48A	chr13:53939280-53939471	GM12878	blood:	n/a	n/a
29	FOS	chr13:53939627-53939660	MCF10A-Er-Src	breast:	n/a	n/a
30	GATA3	chr13:53940181-53940341	SH-SY5Y	brain:	n/a	n/a
31	JUND	chr13:53936448-53936720	HepG2	liver:	n/a	n/a
32	JUND	chr13:53930506-53930659	HepG2	liver:	n/a	n/a
33	MAFK	chr13:53936790-53936913	HepG2	liver:	n/a	chr13:53936845-53936865 chr13:53936847-53936863 chr13:53936848-53936862
34	MAFK	chr13:53945123-53945323	HepG2	liver:	n/a	chr13:53945175-53945186
35	MAZ	chr13:53937807-53937866	HepG2	liver:	n/a	n/a
36	MXI1	chr13:53948622-53948733	GM12878	blood:	n/a	n/a
37	NFE2	chr13:53933209-53933213	GM12878	blood:	n/a	n/a
38	POLR2A	chr13:53953122-53953267	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr13:53940089-53940235	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:53937744-53938144	H1-neurons	neurons:	n/a	n/a
41	POU2F2	chr13:53931717-53932036	GM12891	blood:	n/a	chr13:53931847-53931860
42	POU2F2	chr13:53931703-53932085	GM12891	blood:	n/a	chr13:53931847-53931860
43	RAD21	chr13:53943172-53943357	GM12878	blood:	n/a	n/a
44	RAD21	chr13:53956166-53956465	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr13:53943057-53943474	H1-hESC	embryonic stem cell:	n/a	n/a
46	RAD21	chr13:53956129-53956511	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr13:53956179-53956525	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr13:53943071-53943509	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr13:53943075-53943470	H1-hESC	embryonic stem cell:	n/a	n/a
50	RELA	chr13:53931648-53932345	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:53936590..53939096-chr13:53949782..53952497,2	K562	blood:
2	chr13:53934898..53936614-chr13:53941465..53943222,2	MCF-7	breast:
3	chr13:53936590..53939096-chr13:53949782..53952497,2	K562	blood:

Variant related genes	Relation type
ENSG00000220990	TF binding region
ENSG00000220990	chromatin interactions

Extended variants
information (count: 262 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535354736	chr13:53934961-53934962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183551013	chr13:53934984-53934985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540350831	chr13:53935009-53935010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570724995	chr13:53935030-53935031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539930186	chr13:53935076-53935077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546728532	chr13:53935143-53935144	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188600184	chr13:53935185-53935186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35894645	chr13:53935296-53935297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534799034	chr13:53935350-53935351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200449230	chr13:53935440-53935441	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574762073	chr13:53935442-53935443	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370412917	chr13:53935503-53935504	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536918732	chr13:53935636-53935637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138080639	chr13:53935643-53935644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560255698	chr13:53935645-53935646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs8001044	chr13:53935676-53935677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9596792	chr13:53935689-53935690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573135545	chr13:53935696-53935697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2587359	chr13:53935709-53935710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561920301	chr13:53935752-53935753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192740684	chr13:53935796-53935797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544539578	chr13:53935800-53935801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73201848	chr13:53935813-53935814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184172945	chr13:53935839-53935840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533168991	chr13:53935870-53935871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547109366	chr13:53935876-53935877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116334071	chr13:53935888-53935889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528323131	chr13:53935995-53935996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150648972	chr13:53936001-53936002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568225006	chr13:53936010-53936011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576190745	chr13:53936038-53936039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537355529	chr13:53936063-53936064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556973950	chr13:53936078-53936079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7981317	chr13:53936098-53936099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11618497	chr13:53936109-53936110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552681615	chr13:53936141-53936142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572628119	chr13:53936163-53936164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs188357912	chr13:53936226-53936227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570855030	chr13:53936278-53936279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1443905	chr13:53936286-53936287	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34183575	chr13:53936307-53936308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs8002469	chr13:53936313-53936314	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs544934315	chr13:53936314-53936315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371987564	chr13:53936329-53936330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376639594	chr13:53936365-53936366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1443904	chr13:53936386-53936387	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533394959	chr13:53936387-53936388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191803078	chr13:53936388-53936389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560483259	chr13:53936408-53936409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545099878	chr13:53936499-53936500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53935400-53935600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr13:53935600-53936200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:53935600-53936200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:53935600-53937600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:53936200-53937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr13:53936200-53937800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr13:53937400-53939200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:53937600-53939200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:53937600-53939400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:53937800-53939400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:53937800-53939400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:53938000-53939400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:53938800-53939200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr13:53947600-53948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:53948000-53949000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:53948600-53949400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:53948600-53949400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:53949000-53949600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:53949200-53949400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:53949200-53949600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:53949400-53949800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:53953200-53954600	Enhancers	Liver	Liver
23	chr13:53956000-53956600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr13:53956000-53956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:53956000-53956800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr13:53956200-53956600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:53956200-53956600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:53956400-53956800	Enhancers	H9 Cell Line	embryonic stem cell

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