Variant report

Variant	nsv528942
Chromosome Location	chr13:91926396-91933782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr13:91929555-91929564	K562	blood:	n/a	n/a
2	CEBPB	chr13:91929941-91930163	A549	lung:	n/a	n/a
3	CEBPB	chr13:91929898-91930178	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr13:91926960-91927121	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr13:91929868-91930153	Hela-S3	cervix:	n/a	n/a
6	EP300	chr13:91933132-91933328	SK-N-SH_RA	brain:	n/a	n/a
7	FOS	chr13:91933104-91933432	HUVEC	blood vessel:	n/a	n/a
8	FOS	chr13:91933132-91933359	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA2	chr13:91933078-91933437	HUVEC	blood vessel:	n/a	n/a
10	JUN	chr13:91932077-91932196	K562	blood:	n/a	n/a
11	JUND	chr13:91927669-91927754	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr13:91929155-91929911	HEK293	kidney:	n/a	n/a
13	KAP1	chr13:91929217-91929645	U2OS	brain:	n/a	n/a
14	MAFF	chr13:91929714-91929734	K562	blood:	n/a	n/a
15	MYC	chr13:91931622-91931684	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr13:91929943-91930025	K562	blood:	n/a	n/a
17	SETDB1	chr13:91929050-91929700	U2OS	brain:	n/a	n/a
18	SPI1	chr13:91931168-91931487	GM12891	blood:	n/a	n/a
19	SPI1	chr13:91931211-91931509	HL-60	blood:	n/a	n/a
20	SPI1	chr13:91931114-91931581	HL-60	blood:	n/a	n/a
21	SPI1	chr13:91931220-91931461	GM12891	blood:	n/a	n/a
22	SPI1	chr13:91931217-91931495	GM12878	blood:	n/a	n/a
23	STAT3	chr13:91928794-91928815	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT5A	chr13:91928415-91928685	K562	blood:	n/a	n/a
25	STAT5A	chr13:91929356-91929700	K562	blood:	n/a	n/a
26	ZNF143	chr13:91929327-91929483	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:91925141..91926694-chr13:92150177..92152506,2	K562	blood:
2	chr13:91922489..91928853-chr13:91929417..91934604,6	K562	blood:
3	chr13:91926747..91928257-chr13:92010434..92012597,2	K562	blood:
4	chr13:91925284..91927675-chr13:92003883..92005533,2	K562	blood:
5	chr13:91931913..91934676-chr13:91949979..91951646,2	K562	blood:
6	chr13:91925469..91927024-chr13:91999813..92001365,2	K562	blood:
7	chr13:91927540..91929764-chr13:91999146..92002418,3	K562	blood:

No data

Variant related genes	Relation type
PPIAP23	TF binding region
ENSG00000214178	chromatin interactions
ENSG00000215417	chromatin interactions

Extended variants
information (count: 289 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:289 , 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	rs1330066	chr13:91926396-91926397	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78865222	chr13:91926431-91926432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35998026	chr13:91926460-91926461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536767038	chr13:91926540-91926541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114535053	chr13:91926547-91926548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189283437	chr13:91926564-91926565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9583906	chr13:91926582-91926583	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552138805	chr13:91926584-91926585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558961454	chr13:91926588-91926589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562930259	chr13:91926606-91926607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182026228	chr13:91926635-91926636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77548476	chr13:91926641-91926642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114392064	chr13:91926688-91926689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144515385	chr13:91926745-91926746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs76306973	chr13:91926748-91926749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75406605	chr13:91926775-91926776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs114978355	chr13:91926779-91926780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148430646	chr13:91926786-91926787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528867637	chr13:91926787-91926788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs149832145	chr13:91926794-91926795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183491125	chr13:91926798-91926799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141668453	chr13:91926830-91926831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544591391	chr13:91926838-91926839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561275217	chr13:91926861-91926862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548745096	chr13:91926863-91926864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs546775453	chr13:91926870-91926871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566982588	chr13:91926955-91926956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532578929	chr13:91926956-91926957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147197544	chr13:91927011-91927012	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531884898	chr13:91927031-91927032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113408426	chr13:91927034-91927035	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189238422	chr13:91927048-91927049	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548881244	chr13:91927065-91927066	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181179514	chr13:91927069-91927070	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs566235928	chr13:91927114-91927115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556499543	chr13:91927117-91927118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376516166	chr13:91927135-91927136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371579929	chr13:91927161-91927162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186266525	chr13:91927162-91927163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140493326	chr13:91927173-91927174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552774187	chr13:91927232-91927233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572928858	chr13:91927240-91927241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116587375	chr13:91927241-91927242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191571093	chr13:91927254-91927255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575565107	chr13:91927255-91927256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544507714	chr13:91927258-91927259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79738477	chr13:91927275-91927276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534398529	chr13:91927309-91927310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559489060	chr13:91927323-91927324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181579106	chr13:91927431-91927432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Small bowel adenocarcinoma	21586687	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
Non-syndromic sensorineural hearing loss	18496225	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91924200-91931200	Weak transcription	Dnd41	blood
2	chr13:91930800-91934000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:91930800-91936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:91931000-91931200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr13:91931000-91932000	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:91931200-91932000	Enhancers	Dnd41	blood
7	chr13:91931200-91932600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:91931400-91931800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:91931400-91931800	Enhancers	Primary hematopoietic stem cells	blood
10	chr13:91932600-91933000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:91932800-91933800	Enhancers	HUVEC	blood vessel
12	chr13:91933000-91933200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:91933200-91934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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