Variant report

Variant	nsv975165
Chromosome Location	chr11:33806356-33809766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:33809209-33809266	GM13977	blood:	n/a	n/a
2	MAFF	chr11:33808697-33808865	K562	blood:	n/a	chr11:33808768-33808782
3	MAFK	chr11:33808688-33808888	H1-hESC	embryonic stem cell:	n/a	chr11:33808768-33808782 chr11:33808765-33808785 chr11:33808767-33808783
4	MAFK	chr11:33808751-33808808	HepG2	liver:	n/a	chr11:33808768-33808782 chr11:33808765-33808785 chr11:33808767-33808783
5	MAFK	chr11:33808678-33808816	HepG2	liver:	n/a	chr11:33808768-33808782 chr11:33808765-33808785 chr11:33808767-33808783
6	POLR2A	chr11:33809345-33809490	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:33807551-33807598	H1-hESC	embryonic stem cell:	n/a	n/a
8	SPI1	chr11:33808644-33808959	GM12891	blood:	n/a	chr11:33808808-33808815
9	SPI1	chr11:33808709-33808906	K562	blood:	n/a	chr11:33808808-33808815
10	SPI1	chr11:33808689-33808910	GM12878	blood:	n/a	chr11:33808808-33808815
11	STAT3	chr11:33808455-33808677	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr11:33808431-33808697	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr11:33808484-33808563	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr11:33808430-33808744	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33809547-33809597	Hepatocyte	liver:	n/a
2	chr11:33809547-33809597	ECC-1	luminal epithelium:	n/a
3	chr11:33809547-33809597	H1-hESC	embryonic stem cell:	embryo
4	chr11:33809547-33809597	BJ	skin:	n/a
5	chr11:33809547-33809597	GM12878	blood:	n/a
6	chr11:33809547-33809597	HL-60	blood:	n/a
7	chr11:33809547-33809597	HCM	heart:	n/a
8	chr11:33809547-33809597	AG09319	gingival:	n/a
9	chr11:33809547-33809597	HEEpiC	esophagus:	n/a
10	chr11:33809547-33809597	NH-A	brain:	n/a
11	chr11:33809547-33809597	SK-N-SH	brain:	n/a
12	chr11:33809547-33809597	NHBE	bronchial:	n/a
13	chr11:33809547-33809597	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:33809547-33809597	NT2-D1	testis:	n/a
15	chr11:33809547-33809597	HRCEpiC	kidney:	n/a
16	chr11:33809547-33809597	K562	blood:	n/a
17	chr11:33809547-33809597	LNCaP	prostate:	n/a
18	chr11:33809547-33809597	CMK	blood:	n/a
19	chr11:33809547-33809597	GM12891	blood:	n/a
20	chr11:33809547-33809597	SKMC	muscle:	n/a
21	chr11:33809547-33809597	GM19239	blood:	n/a
22	chr11:33809547-33809597	HUVEC	blood vessel:	n/a
23	chr11:33809547-33809597	HCPEpiC	choroid plexus:	n/a
24	chr11:33809547-33809597	SK-N-MC	brain:	n/a
25	chr11:33809547-33809597	HAEpiC	amniotic membrane:	n/a
26	chr11:33809547-33809597	U87	brain:	n/a
27	chr11:33809547-33809597	HNPCEpiC	eye:	n/a
28	chr11:33809547-33809597	Jurkat	blood:	n/a
29	chr11:33809547-33809597	RPTEC	kidney:	n/a
30	chr11:33809547-33809597	ovcar-3	ovarian:	n/a
31	chr11:33809547-33809597	HepG2	liver:	n/a
32	chr11:33809547-33809597	AG09309	skin:	n/a
33	chr11:33809547-33809597	HCF	heart:	n/a
34	chr11:33809547-33809597	GM12892	blood:	n/a
35	chr11:33809547-33809597	T-47D	breast:	n/a
36	chr11:33809547-33809597	GM06990	blood:	n/a
37	chr11:33809547-33809597	HRPEpiC	eye:	n/a
38	chr11:33809547-33809597	HCT-116	colon:	n/a
39	chr11:33809547-33809597	AG04449	skin:	fetal
40	chr11:33809547-33809597	A549	lung:	n/a
41	chr11:33809547-33809597	AG04450	lung:	fetal
42	chr11:33809547-33809597	AoSMC	blood vessel:	n/a
43	chr11:33809547-33809597	MCF-7	breast:	n/a
44	chr11:33809547-33809597	ProgFib	skin:	n/a
45	chr11:33809547-33809597	Hela-S3	cervix:	n/a
46	chr11:33809547-33809597	Caco-2	colon:	n/a
47	chr11:33809547-33809597	HRE	kidney:	n/a
48	chr11:33809547-33809597	IMR90	lung:	fetal
49	chr11:33809547-33809597	MCF10A-Er-Src	breast:	n/a
50	chr11:33809547-33809597	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33793454..33797702-chr11:33802064..33806582,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255161	TF binding region
ENSG00000255161	CpG island
ENSG00000254508	chromatin interactions
ENSG00000110429	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7125621	chr11:33806361-33806362	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577654574	chr11:33806386-33806387	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548736396	chr11:33806404-33806405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560141228	chr11:33806413-33806414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139143947	chr11:33806439-33806440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77099278	chr11:33806452-33806453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs80078817	chr11:33806454-33806455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573990105	chr11:33806510-33806511	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs192369267	chr11:33806571-33806572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185591102	chr11:33806580-33806581	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375624472	chr11:33806636-33806637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370043696	chr11:33806643-33806644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374623549	chr11:33806645-33806646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200239652	chr11:33806647-33806648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201091194	chr11:33806648-33806649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376564332	chr11:33806649-33806650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10664514	chr11:33806650-33806651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66870125	chr11:33806652-33806653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10650281	chr11:33806653-33806654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117023383	chr11:33806658-33806659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72920573	chr11:33806663-33806664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71715675	chr11:33806664-33806665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60689580	chr11:33806668-33806669	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs144024140	chr11:33806681-33806682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71457311	chr11:33806684-33806685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61628896	chr11:33806685-33806686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531565430	chr11:33806733-33806734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551273801	chr11:33806736-33806737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190562149	chr11:33806778-33806779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11825259	chr11:33806822-33806823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
31	rs554272063	chr11:33806832-33806833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547391370	chr11:33806847-33806848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567283295	chr11:33806866-33806867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536570697	chr11:33806871-33806872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181787983	chr11:33806876-33806877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139020587	chr11:33806903-33806904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570236696	chr11:33806946-33806947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368021104	chr11:33807032-33807033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185200723	chr11:33807071-33807072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188488831	chr11:33807088-33807089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573893685	chr11:33807089-33807090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372479029	chr11:33807104-33807105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376405981	chr11:33807107-33807108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577814567	chr11:33807154-33807155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538922588	chr11:33807181-33807182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11032387	chr11:33807191-33807192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149233024	chr11:33807255-33807256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542624932	chr11:33807268-33807269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544583259	chr11:33807360-33807361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148675537	chr11:33807361-33807362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33802200-33818200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:33808600-33809000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:33808600-33809000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:33808600-33809000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:33808600-33809000	Enhancers	Monocytes-CD14+_RO01746	blood

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