Variant report

Variant	esv2588801
Chromosome Location	chr11:48366970-48374599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:48367001-48367415	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:48367014-48367428	HCT-116	colon:	n/a	n/a
3	CEBPB	chr11:48367027-48367324	HCT-116	colon:	n/a	n/a
4	CEBPB	chr11:48367044-48367318	HepG2	liver:	n/a	n/a
5	CTCF	chr11:48367644-48367692	Fibrobl	skin:	n/a	n/a
6	CTCF	chr11:48367060-48367210	K562	blood:	n/a	n/a
7	FOS	chr11:48374407-48375433	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
8	FOXA2	chr11:48367787-48368347	A549	lung:	n/a	n/a
9	POLR2A	chr11:48374222-48374421	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:48367197-48367269	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:48373728-48373976	MCF10A-Er-Src	breast:	n/a	n/a
12	SPI1	chr11:48371602-48371808	GM12878	blood:	n/a	n/a
13	SPI1	chr11:48371656-48371753	GM12878	blood:	n/a	n/a
14	STAT1	chr11:48367308-48367337	GM12878	blood:	n/a	n/a
15	STAT3	chr11:48373940-48375192	MCF10A-Er-Src	breast:	n/a	chr11:48375037-48375045 chr11:48374838-48374847 chr11:48374839-48374848

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48374446-48374496	AG09309	skin:	n/a
2	chr11:48367974-48368024	GM12878	blood:	n/a
3	chr11:48374446-48374496	SK-N-SH	brain:	n/a
4	chr11:48374446-48374496	HNPCEpiC	eye:	n/a
5	chr11:48374446-48374496	HRE	kidney:	n/a
6	chr11:48374446-48374496	BE2_C	brain:	n/a
7	chr11:48374446-48374496	ovcar-3	ovarian:	n/a
8	chr11:48367974-48368024	BJ	skin:	n/a
9	chr11:48367974-48368024	MCF-7	breast:	n/a
10	chr11:48374446-48374496	U87	brain:	n/a
11	chr11:48374446-48374496	PrEC	prostate:	n/a
12	chr11:48374446-48374496	ECC-1	luminal epithelium:	n/a
13	chr11:48374446-48374496	BJ	skin:	n/a
14	chr11:48374446-48374496	HPAEpiC	pulmonary alveolar:	n/a
15	chr11:48367974-48368024	HRCEpiC	kidney:	n/a
16	chr11:48374446-48374496	HRCEpiC	kidney:	n/a
17	chr11:48374446-48374496	HEK293	kidney:	embryo
18	chr11:48374446-48374496	AoSMC	blood vessel:	n/a
19	chr11:48367974-48368024	GM12891	blood:	n/a
20	chr11:48374446-48374496	MCF10A-Er-Src	breast:	n/a
21	chr11:48367974-48368024	SK-N-SH_RA	brain:	n/a
22	chr11:48367974-48368024	HCM	heart:	n/a
23	chr11:48367974-48368024	HPAEpiC	pulmonary alveolar:	n/a
24	chr11:48374446-48374496	GM19239	blood:	n/a
25	chr11:48374446-48374496	GM12892	blood:	n/a
26	chr11:48367974-48368024	LNCaP	prostate:	n/a
27	chr11:48367974-48368024	HUVEC	blood vessel:	n/a
28	chr11:48367974-48368024	PrEC	prostate:	n/a
29	chr11:48374446-48374496	AG09319	gingival:	n/a
30	chr11:48374446-48374496	PFSK-1	brain:	n/a
31	chr11:48374446-48374496	AG04449	skin:	fetal
32	chr11:48367974-48368024	SAEC	small airway:	n/a
33	chr11:48367974-48368024	PFSK-1	brain:	n/a
34	chr11:48367974-48368024	HCPEpiC	choroid plexus:	n/a
35	chr11:48367974-48368024	IMR90	lung:	fetal
36	chr11:48367974-48368024	GM12892	blood:	n/a
37	chr11:48374446-48374496	HCM	heart:	n/a
38	chr11:48367974-48368024	AG09319	gingival:	n/a
39	chr11:48367974-48368024	SK-N-MC	brain:	n/a
40	chr11:48367974-48368024	CMK	blood:	n/a
41	chr11:48367974-48368024	HL-60	blood:	n/a
42	chr11:48367974-48368024	HRPEpiC	eye:	n/a
43	chr11:48367974-48368024	Caco-2	colon:	n/a
44	chr11:48374446-48374496	HRPEpiC	eye:	n/a
45	chr11:48367974-48368024	K562	blood:	n/a
46	chr11:48374446-48374496	HCF	heart:	n/a
47	chr11:48374446-48374496	CMK	blood:	n/a
48	chr11:48367974-48368024	NHBE	bronchial:	n/a
49	chr11:48367974-48368024	NB4	blood:	n/a
50	chr11:48374446-48374496	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:
2	chr11:48366878..48368914-chr11:48372533..48375413,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR4C4P	TF binding region
OR4C4P	CpG island
ENSG00000197161	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377042306	chr11:48366971-48366972	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75621879	chr11:48366972-48366973	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575843350	chr11:48366976-48366977	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs575509850	chr11:48366986-48366987	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74415452	chr11:48366994-48366995	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs267602918	chr11:48367008-48367009	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs267602919	chr11:48367009-48367010	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544073692	chr11:48367025-48367026	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200811702	chr11:48367028-48367029	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113897236	chr11:48367050-48367051	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34597308	chr11:48367051-48367052	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371835916	chr11:48367062-48367063	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201647267	chr11:48367065-48367066	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7941588	chr11:48367073-48367074	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540027370	chr11:48367086-48367087	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73453179	chr11:48367097-48367098	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs200872274	chr11:48367098-48367099	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373680481	chr11:48367111-48367112	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367551156	chr11:48367118-48367119	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79453749	chr11:48367133-48367134	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78927905	chr11:48367136-48367137	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531312962	chr11:48367137-48367138	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs548935678	chr11:48367140-48367141	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568762431	chr11:48367141-48367142	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs75315666	chr11:48367155-48367156	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75667244	chr11:48367159-48367160	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74650698	chr11:48367163-48367164	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77876442	chr11:48367170-48367171	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372155212	chr11:48367173-48367174	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78661795	chr11:48367190-48367191	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79063955	chr11:48367195-48367196	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534443410	chr11:48367196-48367197	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554360992	chr11:48367205-48367206	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74815769	chr11:48367249-48367250	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76287086	chr11:48367252-48367253	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570934123	chr11:48367291-48367292	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73453180	chr11:48367311-48367312	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375092045	chr11:48367317-48367318	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539515138	chr11:48367318-48367319	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201480912	chr11:48367334-48367335	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73453183	chr11:48367363-48367364	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576386484	chr11:48367372-48367373	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs78788561	chr11:48367387-48367388	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77576379	chr11:48367419-48367420	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375261215	chr11:48367420-48367421	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs77976451	chr11:48367424-48367425	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554482493	chr11:48367444-48367445	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574387385	chr11:48367454-48367455	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79175163	chr11:48367455-48367456	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs386753334	chr11:48367469-48367470	ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48363600-48367000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:48363800-48367000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:48364800-48367400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:48366400-48367400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:48366600-48367000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:48366600-48367600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:48366800-48367000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:48366800-48367000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr11:48366800-48367600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr11:48367000-48367200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:48367000-48367400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:48367000-48367400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr11:48367000-48367400	Active TSS	Fetal Heart	heart
14	chr11:48367000-48367600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:48367000-48367600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:48367000-48367600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:48367000-48367600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:48367000-48368600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:48367200-48367400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:48367200-48367400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr11:48367200-48367600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:48367200-48367600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:48367400-48367600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:48367400-48368400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:48367400-48368600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:48367600-48368000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:48367600-48368200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:48367600-48368200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:48367600-48368200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr11:48367600-48368400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:48367600-48368800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:48367600-48369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:48368000-48368600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:48368200-48368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:48368200-48368600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:48368200-48368600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:48368800-48369000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:48373800-48379800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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