Variant report

Variant	esv1837912
Chromosome Location	chr11:24443570-24475606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:24459149-24459440	IMR90	lung:	n/a	chr11:24459283-24459294
2	CEBPB	chr11:24459132-24459434	HepG2	liver:	n/a	chr11:24459283-24459294
3	CEBPB	chr11:24459325-24459347	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:24458740-24458890	RPTEC	kidney:	n/a	n/a
5	CTCF	chr11:24458835-24458866	Gliobla	brain:	n/a	n/a
6	CTCF	chr11:24458760-24458910	HRE	kidney:	n/a	n/a
7	CTCF	chr11:24458780-24458930	AG04450	lung:	n/a	n/a
8	CTCF	chr11:24458740-24458967	MCF-7	breast:	n/a	n/a
9	CTCF	chr11:24458820-24458970	MCF-7	breast:	n/a	n/a
10	CTCF	chr11:24458760-24458910	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr11:24458811-24458902	MCF-7	breast:	n/a	n/a
12	CTCF	chr11:24458700-24458850	Caco-2	colon:	n/a	n/a
13	CTCF	chr11:24458803-24458836	LNCaP	prostate:	n/a	n/a
14	CTCF	chr11:24458728-24459040	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:24458658-24459013	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:24458826-24458877	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr11:24458775-24458932	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr11:24458807-24458906	NHEK	skin:	n/a	n/a
19	CTCF	chr11:24458836-24458930	LNCaP	prostate:	n/a	n/a
20	CTCF	chr11:24458800-24458950	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr11:24458780-24458930	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:24458780-24458930	Caco-2	colon:	n/a	n/a
23	CTCF	chr11:24458803-24458913	HepG2	liver:	n/a	n/a
24	CTCF	chr11:24458820-24458970	RPTEC	kidney:	n/a	n/a
25	CTCF	chr11:24458740-24458890	HAc	cerebellar:	n/a	n/a
26	CTCF	chr11:24457340-24457490	RPTEC	kidney:	n/a	n/a
27	CTCF	chr11:24458720-24458870	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr11:24458760-24458910	HepG2	liver:	n/a	n/a
29	CTCF	chr11:24472294-24472369	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:24458754-24458966	MCF-7	breast:	n/a	n/a
31	E2F4	chr11:24469864-24469899	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr11:24459236-24459314	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:24446906-24447157	MCF10A-Er-Src	breast:	n/a	chr11:24447054-24447062
34	FOS	chr11:24443369-24443619	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:24468666-24468787	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:24446895-24447225	MCF10A-Er-Src	breast:	n/a	chr11:24447054-24447062
37	FOS	chr11:24446901-24447227	MCF10A-Er-Src	breast:	n/a	chr11:24447054-24447062
38	FOS	chr11:24474990-24475166	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr11:24474950-24475154	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA2	chr11:24467687-24468147	A549	lung:	n/a	n/a
41	FOXA2	chr11:24467722-24467967	A549	lung:	n/a	n/a
42	GABPA	chr11:24450412-24450492	HepG2	liver:	n/a	n/a
43	JUN	chr11:24458184-24458237	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUN	chr11:24456820-24456909	HepG2	liver:	n/a	chr11:24456890-24456899 chr11:24456889-24456902
45	JUN	chr11:24454761-24454944	K562	blood:	n/a	n/a
46	JUND	chr11:24458857-24458870	H1-hESC	embryonic stem cell:	n/a	n/a
47	JUND	chr11:24456822-24456921	HepG2	liver:	n/a	chr11:24456890-24456899
48	JUND	chr11:24459230-24459447	HepG2	liver:	n/a	n/a
49	JUND	chr11:24474809-24475211	Hela-S3	cervix:	n/a	n/a
50	MAFF	chr11:24451607-24451812	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:24469509-24469559	Hepatocyte	liver:	n/a
2	chr11:24469509-24469559	NB4	blood:	n/a
3	chr11:24469509-24469559	GM06990	blood:	n/a
4	chr11:24469509-24469559	HL-60	blood:	n/a
5	chr11:24469509-24469559	HepG2	liver:	n/a
6	chr11:24469509-24469559	Jurkat	blood:	n/a
7	chr11:24469509-24469559	ovcar-3	ovarian:	n/a
8	chr11:24469509-24469559	AG04450	lung:	fetal
9	chr11:24469509-24469559	T-47D	breast:	n/a
10	chr11:24469509-24469559	BE2_C	brain:	n/a
11	chr11:24469509-24469559	AG10803	skin:	n/a
12	chr11:24469509-24469559	AG09319	gingival:	n/a
13	chr11:24469509-24469559	HUVEC	blood vessel:	n/a
14	chr11:24469509-24469559	H1-hESC	embryonic stem cell:	embryo
15	chr11:24469509-24469559	HMEC	breast:	n/a
16	chr11:24469509-24469559	NHBE	bronchial:	n/a
17	chr11:24469509-24469559	Hela-S3	cervix:	n/a
18	chr11:24469509-24469559	IMR90	lung:	fetal
19	chr11:24469509-24469559	BJ	skin:	n/a
20	chr11:24469509-24469559	HCF	heart:	n/a
21	chr11:24469509-24469559	GM19239	blood:	n/a
22	chr11:24469509-24469559	HIPEpiC	eye:	n/a
23	chr11:24469509-24469559	HEK293	kidney:	embryo
24	chr11:24469509-24469559	PrEC	prostate:	n/a
25	chr11:24469509-24469559	HAEpiC	amniotic membrane:	n/a
26	chr11:24469509-24469559	NT2-D1	testis:	n/a
27	chr11:24469509-24469559	AG04449	skin:	fetal
28	chr11:24469509-24469559	HEEpiC	esophagus:	n/a
29	chr11:24469509-24469559	HCT-116	colon:	n/a
30	chr11:24469509-24469559	RPTEC	kidney:	n/a
31	chr11:24469509-24469559	SAEC	small airway:	n/a
32	chr11:24469509-24469559	CMK	blood:	n/a
33	chr11:24469509-24469559	SK-N-SH_RA	brain:	n/a
34	chr11:24469509-24469559	GM12892	blood:	n/a
35	chr11:24469509-24469559	PANC-1	pancreas:	n/a
36	chr11:24469509-24469559	PFSK-1	brain:	n/a
37	chr11:24469509-24469559	MCF10A-Er-Src	breast:	n/a
38	chr11:24469509-24469559	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:24469509-24469559	NHDF-neo	bronchial:	n/a
40	chr11:24469509-24469559	ProgFib	skin:	n/a
41	chr11:24469509-24469559	SK-N-MC	brain:	n/a
42	chr11:24469509-24469559	K562	blood:	n/a
43	chr11:24469509-24469559	AoSMC	blood vessel:	n/a
44	chr11:24469509-24469559	HRCEpiC	kidney:	n/a
45	chr11:24469509-24469559	GM12891	blood:	n/a
46	chr11:24469509-24469559	AG09309	skin:	n/a
47	chr11:24469509-24469559	Caco-2	colon:	n/a
48	chr11:24469509-24469559	ECC-1	luminal epithelium:	n/a
49	chr11:24469509-24469559	NH-A	brain:	n/a
50	chr11:24469509-24469559	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000207252	TF binding region
ENSG00000207252	CpG island

Extended variants
information (count: 357 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12279193	chr11:24443570-24443571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575776631	chr11:24443577-24443578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186993746	chr11:24443596-24443597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554758153	chr11:24443614-24443615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374743068	chr11:24443673-24443674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545112803	chr11:24443678-24443679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143476694	chr11:24443686-24443687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576805626	chr11:24443695-24443696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545447275	chr11:24443707-24443708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146822030	chr11:24443718-24443719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531257529	chr11:24443719-24443720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550769471	chr11:24443746-24443747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138872868	chr11:24443755-24443756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530231783	chr11:24443769-24443770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36066006	chr11:24443805-24443806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142851298	chr11:24443831-24443832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115121060	chr11:24443898-24443899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567039388	chr11:24443948-24443949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539040627	chr11:24443951-24443952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552577640	chr11:24444059-24444060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569377265	chr11:24444087-24444088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34039242	chr11:24444091-24444092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543169483	chr11:24449723-24449724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546628506	chr11:24449738-24449739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372977404	chr11:24449750-24449751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117618669	chr11:24449755-24449756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190348042	chr11:24449770-24449771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537800784	chr11:24449778-24449779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559093396	chr11:24449811-24449812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145033643	chr11:24449829-24449830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538024503	chr11:24449837-24449838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554865022	chr11:24449840-24449841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113233149	chr11:24449854-24449855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147555734	chr11:24449862-24449863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182902037	chr11:24449878-24449879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186346658	chr11:24449894-24449895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191594677	chr11:24449896-24449897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576426610	chr11:24449898-24449899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527794902	chr11:24449900-24449901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142085153	chr11:24449905-24449906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562227897	chr11:24449907-24449908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531022966	chr11:24449943-24449944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199894091	chr11:24449961-24449962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556205165	chr11:24449982-24449983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12418983	chr11:24449998-24449999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561627414	chr11:24450044-24450045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530287322	chr11:24450057-24450058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182514955	chr11:24450114-24450115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs118016881	chr11:24450116-24450117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532531123	chr11:24450142-24450143	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24443000-24444200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr11:24443200-24443600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr11:24443200-24443600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:24443200-24443600	Enhancers	HMEC	breast
5	chr11:24443200-24444000	Enhancers	NHEK	skin
6	chr11:24449600-24450000	Enhancers	Fetal Intestine Large	intestine
7	chr11:24449800-24450200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:24464600-24467600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr11:24465400-24466800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:24465800-24466200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:24465800-24467000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr11:24465800-24467200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr11:24465800-24467800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr11:24466000-24467600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:24466400-24467600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr11:24467200-24469200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:24467400-24471200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr11:24467600-24468600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:24467600-24468600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:24467600-24469000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:24467800-24470600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:24468600-24471600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:24468600-24471600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr11:24469000-24471000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:24469200-24470000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:24469200-24470600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:24469400-24470200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:24470000-24470800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:24470600-24471000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr11:24470800-24471200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:24474800-24475600	Enhancers	Hela-S3	cervix

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