Variant report

Variant	esv1841973
Chromosome Location	chr11:17327038-17339127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:17336006-17336007	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:17335538-17336126	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:17335796-17336042	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:17327219-17327340	HepG2	liver:	n/a	chr11:17327224-17327235
5	CTCF	chr11:17335420-17335570	GM12869	blood:	n/a	n/a
6	E2F4	chr11:17329360-17329562	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:17329294-17329514	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:17335488-17336058	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:17335529-17336064	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:17335495-17336078	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:17329275-17329580	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:17335689-17336071	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:17329248-17329594	MCF10A-Er-Src	breast:	n/a	n/a
14	KAP1	chr11:17335497-17336260	U2OS	brain:	n/a	n/a
15	KAP1	chr11:17335481-17336237	HEK293	kidney:	n/a	n/a
16	MAFK	chr11:17335757-17336350	IMR90	lung:	n/a	n/a
17	MAX	chr11:17335669-17336080	SK-N-SH	brain:	n/a	n/a
18	MYC	chr11:17335708-17336077	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr11:17335740-17336066	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr11:17331259-17331522	MCF10A-Er-Src	breast:	n/a	n/a
21	NFYB	chr11:17332513-17332543	GM12878	blood:	n/a	n/a
22	PBX3	chr11:17335458-17336179	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr11:17335588-17336168	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:17330695-17330869	Gliobla	brain:	n/a	n/a
25	POLR2A	chr11:17335696-17336016	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:17329013-17329026	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:17332029-17332072	A549	lung:	n/a	n/a
28	POLR2A	chr11:17335067-17335196	ProgFib	skin:	n/a	n/a
29	POLR2A	chr11:17335715-17335990	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:17335745-17336252	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:17332900-17333198	K562	blood:	n/a	n/a
32	POLR2A	chr11:17331029-17331290	K562	blood:	n/a	n/a
33	RAD21	chr11:17335806-17336113	IMR90	lung:	n/a	n/a
34	RFX5	chr11:17338988-17339174	K562	blood:	n/a	n/a
35	RFX5	chr11:17327058-17327109	K562	blood:	n/a	n/a
36	STAT3	chr11:17335688-17336078	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:17337941-17338126	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr11:17330522-17330722	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr11:17327693-17327870	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr11:17335708-17336117	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:17335674-17336050	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr11:17335802-17336065	MCF10A-Er-Src	breast:	n/a	n/a
43	USF1	chr11:17335642-17336159	ECC-1	luminal epithelium:	n/a	n/a
44	USF1	chr11:17335677-17336058	SK-N-SH_RA	brain:	n/a	n/a
45	USF1	chr11:17335667-17336062	SK-N-SH	brain:	n/a	n/a
46	USF1	chr11:17335600-17336257	SK-N-SH	brain:	n/a	n/a
47	USF1	chr11:17335704-17336009	SK-N-SH_RA	brain:	n/a	n/a
48	USF1	chr11:17335723-17336088	ECC-1	luminal epithelium:	n/a	n/a
49	USF2	chr11:17335754-17336078	Hela-S3	cervix:	n/a	chr11:17335882-17335893

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17325618..17327534-chr11:17329034..17330695,2	K562	blood:
2	chr11:17326206..17329035-chr11:17373142..17375618,2	K562	blood:
3	chr11:17325618..17327534-chr11:17329034..17330695,2	K562	blood:
4	chr11:17336064..17337683-chr11:17338247..17340454,2	MCF-7	breast:
5	chr11:17336111..17336712-chr4:31786899..31787441,2	MCF-7	breast:
6	chr11:17336064..17337683-chr11:17338247..17340454,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNJ11-5	chr11:17329160-17329300	l_439_chr11:17315763-17328093_testes
2	lnc-KCNJ11-5	chr11:17328921-17329034	l_439_chr11:17315763-17328093_testes
3	lnc-KCNJ11-5	chr11:17327447-17328093	l_439_chr11:17315763-17328093_testes

No data

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000188211	chromatin interactions

Extended variants
information (count: 413 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7350508	chr11:17327038-17327039	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78024667	chr11:17327060-17327061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187178803	chr11:17327210-17327211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550549279	chr11:17327266-17327267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535944982	chr11:17327325-17327326	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554509405	chr11:17327340-17327341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111856802	chr11:17327361-17327362	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572788014	chr11:17327409-17327410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190261339	chr11:17327442-17327443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556682035	chr11:17327466-17327467	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs576715785	chr11:17327511-17327512	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs181510005	chr11:17327541-17327542	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577227970	chr11:17327671-17327672	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs144836207	chr11:17327715-17327716	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs562677636	chr11:17327744-17327745	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs530989195	chr11:17327764-17327765	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs186643763	chr11:17327852-17327853	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs561332868	chr11:17327875-17327876	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs569025370	chr11:17327880-17327881	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs12282915	chr11:17327899-17327900	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369824960	chr11:17327927-17327928	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs372208789	chr11:17327929-17327930	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs547258072	chr11:17327940-17327941	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs565404394	chr11:17327969-17327970	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs532687651	chr11:17327978-17327979	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs550714434	chr11:17328086-17328087	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs569116752	chr11:17328101-17328102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554423205	chr11:17328135-17328136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535930531	chr11:17328142-17328143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548024743	chr11:17328161-17328162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566438899	chr11:17328189-17328190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533585199	chr11:17328207-17328208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369753035	chr11:17328229-17328230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11024245	chr11:17328253-17328254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs533897885	chr11:17328261-17328262	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527910633	chr11:17328326-17328327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376952838	chr11:17328331-17328332	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538149545	chr11:17328334-17328335	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558635024	chr11:17328335-17328336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143970984	chr11:17328367-17328368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574733677	chr11:17328374-17328375	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543085895	chr11:17328395-17328396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12792398	chr11:17328396-17328397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371223323	chr11:17328407-17328408	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190204615	chr11:17328415-17328416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573303772	chr11:17328442-17328443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75341514	chr11:17328458-17328459	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200996662	chr11:17328459-17328460	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76922070	chr11:17328461-17328462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540235195	chr11:17328470-17328471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
4	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
6	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
9	chr11:17299600-17335000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:17299800-17327600	Weak transcription	HUVEC	blood vessel
11	chr11:17300200-17335000	Weak transcription	Fetal Brain Male	brain
12	chr11:17301600-17350400	Weak transcription	Fetal Heart	heart
13	chr11:17302600-17329600	Weak transcription	K562	blood
14	chr11:17305800-17332400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:17306200-17353000	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:17307600-17328000	Weak transcription	Pancreas	Pancrea
17	chr11:17307800-17333600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:17308200-17335800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:17308200-17353600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:17308200-17357600	Weak transcription	HepG2	liver
21	chr11:17308200-17360800	Strong transcription	Fetal Thymus	thymus
22	chr11:17308200-17372600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:17308400-17335000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:17308400-17335000	Weak transcription	NHLF	lung
25	chr11:17308400-17356800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:17308400-17361600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:17308800-17331800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:17308800-17331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:17309000-17327400	Weak transcription	Fetal Brain Female	brain
30	chr11:17309000-17331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:17309000-17355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:17309400-17335200	Weak transcription	Psoas Muscle	Psoas
33	chr11:17309600-17329600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:17312200-17355400	Weak transcription	Fetal Kidney	kidney
35	chr11:17313800-17335400	Weak transcription	HSMMtube	muscle
36	chr11:17314200-17353400	Weak transcription	Stomach Mucosa	stomach
37	chr11:17314400-17335000	Strong transcription	Dnd41	blood
38	chr11:17315200-17335000	Weak transcription	Colonic Mucosa	Colon
39	chr11:17315400-17335000	Weak transcription	Spleen	Spleen
40	chr11:17315400-17353400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:17316000-17335200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:17316000-17360000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:17316000-17361000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:17316400-17347600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:17316600-17349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:17317800-17332200	Strong transcription	Thymus	Thymus
47	chr11:17318200-17331200	Weak transcription	HSMM	muscle
48	chr11:17318400-17329400	Weak transcription	NH-A	brain
49	chr11:17318400-17331600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:17318400-17355600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links