Variant report

Variant	nsv1042501
Chromosome Location	chr11:5850871-5887925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:305)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:5867958-5868232	K562	blood:	n/a	n/a
2	CEBPB	chr11:5872260-5872623	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:5872324-5872546	K562	blood:	n/a	n/a
4	CEBPB	chr11:5872237-5872619	K562	blood:	n/a	n/a
5	CEBPB	chr11:5860791-5861085	HepG2	liver:	n/a	chr11:5860903-5860914 chr11:5861009-5861022
6	CEBPB	chr11:5872283-5872577	A549	lung:	n/a	n/a
7	CEBPB	chr11:5872262-5872604	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:5872276-5872519	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:5872256-5872635	K562	blood:	n/a	n/a
10	CEBPB	chr11:5872999-5873041	K562	blood:	n/a	n/a
11	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
12	CTCF	chr11:5857183-5857254	Lung_OC	lung:	n/a	n/a
13	CTCF	chr11:5851940-5852090	HRE	kidney:	n/a	n/a
14	CUX1	chr11:5885690-5885712	GM12878	blood:	n/a	n/a
15	CUX1	chr11:5868005-5868222	K562	blood:	n/a	n/a
16	E2F4	chr11:5860873-5861214	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr11:5852617-5852788	GM12878	blood:	n/a	chr11:5852704-5852715
18	EBF1	chr11:5852638-5852851	GM12878	blood:	n/a	chr11:5852704-5852715
19	FOS	chr11:5859472-5859773	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr11:5866203-5866313	MCF10A-Er-Src	breast:	n/a	chr11:5866270-5866279
21	FOS	chr11:5859495-5859695	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr11:5859452-5859761	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr11:5859481-5859658	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA2	chr11:5867938-5868231	K562	blood:	n/a	n/a
25	GATA3	chr11:5866686-5866880	SH-SY5Y	brain:	n/a	chr11:5866736-5866746
26	JUND	chr11:5859569-5859657	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFYA	chr11:5861168-5861251	GM12878	blood:	n/a	n/a
28	NFYA	chr11:5871139-5871260	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:5882397-5882439	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:5858673-5858678	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:5869476-5869551	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:5887368-5887448	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:5875602-5875721	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:5869992-5870192	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:5858691-5859058	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr11:5874795-5874859	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:5855986-5855998	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr11:5861122-5861243	MCF10A-Er-Src	breast:	n/a	n/a
40	RCOR1	chr11:5870763-5870771	GM12878	blood:	n/a	n/a
41	SPI1	chr11:5875526-5875870	HL-60	blood:	n/a	n/a
42	SPI1	chr11:5875635-5875791	K562	blood:	n/a	n/a
43	SPI1	chr11:5875598-5875807	GM12891	blood:	n/a	n/a
44	SPI1	chr11:5875626-5875733	GM12878	blood:	n/a	n/a
45	STAT3	chr11:5859566-5859666	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr11:5855544-5855726	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr11:5864872-5864986	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:5885927-5886104	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT5A	chr11:5867854-5868317	K562	blood:	n/a	n/a
50	TAL1	chr11:5867928-5868278	K562	blood:	n/a	chr11:5867978-5867993

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5879799-5879849	HEEpiC	esophagus:	n/a
2	chr11:5878955-5879005	HRCEpiC	kidney:	n/a
3	chr11:5879799-5879849	CMK	blood:	n/a
4	chr11:5862757-5862807	NHBE	bronchial:	n/a
5	chr11:5878958-5879008	T-47D	breast:	n/a
6	chr11:5878955-5879005	GM12892	blood:	n/a
7	chr11:5879799-5879849	NT2-D1	testis:	n/a
8	chr11:5879799-5879849	HEK293	kidney:	embryo
9	chr11:5878019-5878069	ovcar-3	ovarian:	n/a
10	chr11:5878019-5878069	GM12892	blood:	n/a
11	chr11:5878955-5879005	AoSMC	blood vessel:	n/a
12	chr11:5878019-5878069	SK-N-MC	brain:	n/a
13	chr11:5862757-5862807	HNPCEpiC	eye:	n/a
14	chr11:5879799-5879849	NHDF-neo	bronchial:	n/a
15	chr11:5862757-5862807	HRCEpiC	kidney:	n/a
16	chr11:5879799-5879849	HCT-116	colon:	n/a
17	chr11:5878955-5879005	A549	lung:	n/a
18	chr11:5862757-5862807	GM06990	blood:	n/a
19	chr11:5878958-5879008	HCT-116	colon:	n/a
20	chr11:5878955-5879005	Hela-S3	cervix:	n/a
21	chr11:5878019-5878069	LNCaP	prostate:	n/a
22	chr11:5878955-5879005	AG04449	skin:	fetal
23	chr11:5862757-5862807	NB4	blood:	n/a
24	chr11:5878955-5879005	Hepatocyte	liver:	n/a
25	chr11:5878958-5879008	SK-N-SH_RA	brain:	n/a
26	chr11:5878955-5879005	GM12891	blood:	n/a
27	chr11:5878955-5879005	HCPEpiC	choroid plexus:	n/a
28	chr11:5879799-5879849	NB4	blood:	n/a
29	chr11:5879799-5879849	HAEpiC	amniotic membrane:	n/a
30	chr11:5879799-5879849	IMR90	lung:	fetal
31	chr11:5878955-5879005	HRE	kidney:	n/a
32	chr11:5878955-5879005	HIPEpiC	eye:	n/a
33	chr11:5879799-5879849	HCPEpiC	choroid plexus:	n/a
34	chr11:5879799-5879849	SK-N-MC	brain:	n/a
35	chr11:5878955-5879005	U87	brain:	n/a
36	chr11:5879799-5879849	Caco-2	colon:	n/a
37	chr11:5879799-5879849	PrEC	prostate:	n/a
38	chr11:5878958-5879008	Jurkat	blood:	n/a
39	chr11:5862757-5862807	HCF	heart:	n/a
40	chr11:5862757-5862807	Hela-S3	cervix:	n/a
41	chr11:5879799-5879849	Hela-S3	cervix:	n/a
42	chr11:5862757-5862807	IMR90	lung:	fetal
43	chr11:5878958-5879008	LNCaP	prostate:	n/a
44	chr11:5862757-5862807	GM19239	blood:	n/a
45	chr11:5878019-5878069	SKMC	muscle:	n/a
46	chr11:5878019-5878069	HCT-116	colon:	n/a
47	chr11:5879799-5879849	LNCaP	prostate:	n/a
48	chr11:5878958-5879008	GM19239	blood:	n/a
49	chr11:5878958-5879008	NT2-D1	testis:	n/a
50	chr11:5878955-5879005	HL-60	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
2	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
3	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
4	chr11:5624501..5627132-chr11:5864110..5866579,2	K562	blood:

No data

Variant related genes	Relation type
OR52E6	TF binding region
OR52E8	TF binding region
OR52E6	CpG island
OR52E8	CpG island
ENSG00000183269	chromatin interactions
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000121236	chromatin interactions

Extended variants
information (count: 690 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532084463	chr11:5850926-5850927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545676956	chr11:5850941-5850942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575839066	chr11:5850972-5850973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545956157	chr11:5851019-5851020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564606135	chr11:5851029-5851030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573242906	chr11:5851032-5851033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374251535	chr11:5851035-5851036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540655107	chr11:5851067-5851068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150878997	chr11:5851110-5851111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529184827	chr11:5851112-5851113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568740629	chr11:5851167-5851168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550893441	chr11:5851174-5851175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562539423	chr11:5851188-5851189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112735544	chr11:5851212-5851213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527268450	chr11:5851233-5851234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547487387	chr11:5851278-5851279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566251324	chr11:5851287-5851288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533496424	chr11:5851296-5851297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7934223	chr11:5851307-5851308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191098845	chr11:5851308-5851309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535768048	chr11:5851315-5851316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557660473	chr11:5851330-5851331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575735649	chr11:5851333-5851334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540041853	chr11:5851358-5851359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372258255	chr11:5851367-5851368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573380698	chr11:5851375-5851376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540593071	chr11:5851391-5851392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555789832	chr11:5851403-5851404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574025752	chr11:5851450-5851451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183652335	chr11:5851454-5851455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11039205	chr11:5851468-5851469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529522235	chr11:5851473-5851474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532954592	chr11:5851492-5851493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115463987	chr11:5851514-5851515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549602083	chr11:5851520-5851521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373666842	chr11:5851539-5851540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200133705	chr11:5851561-5851562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1377522	chr11:5851596-5851597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs538549372	chr11:5851599-5851600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527373982	chr11:5851629-5851630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118070180	chr11:5851655-5851656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77652424	chr11:5851659-5851660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140691068	chr11:5851669-5851670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80214100	chr11:5851751-5851752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1453441	chr11:5851790-5851791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374397547	chr11:5851812-5851813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571630004	chr11:5851826-5851827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144662832	chr11:5851867-5851868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116319256	chr11:5851892-5851893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534285906	chr11:5851899-5851900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Type 2 diabetes	21526130	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5847800-5852600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:5851800-5852800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:5852200-5852800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:5852200-5853400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:5852200-5853400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:5852400-5852800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:5852400-5853200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:5852400-5853400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:5852400-5853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:5852600-5853000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:5852600-5853200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:5852800-5853200	Enhancers	Adipose Nuclei	Adipose
13	chr11:5853000-5853400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr11:5862200-5863000	Active TSS	Brain Substantia Nigra	brain
15	chr11:5867400-5869000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:5867800-5868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:5868400-5869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:5869000-5869200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:5869000-5869800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:5869800-5870000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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