Variant report

Variant	nsv971987
Chromosome Location	chr11:9674511-9684250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr11:9679032-9679391	GM12878	blood:	n/a	n/a
2	BHLHE40	chr11:9679093-9679293	HepG2	liver:	n/a	n/a
3	CBX3	chr11:9677542-9677884	K562	blood:	n/a	n/a
4	CEBPB	chr11:9682473-9682922	A549	lung:	n/a	n/a
5	CEBPB	chr11:9682448-9682897	A549	lung:	n/a	n/a
6	CHD1	chr11:9684140-9684144	GM12878	blood:	n/a	n/a
7	CTCF	chr11:9677440-9677462	GM20000	blood:	n/a	n/a
8	CTCF	chr11:9677354-9677430	LNCaP	prostate:	n/a	n/a
9	CUX1	chr11:9684172-9684482	GM12878	blood:	n/a	n/a
10	E2F4	chr11:9682532-9682797	MCF10A-Er-Src	breast:	n/a	n/a
11	EGR1	chr11:9680254-9680413	K562	blood:	n/a	n/a
12	ELK1	chr11:9679070-9679075	Hela-S3	cervix:	n/a	n/a
13	EP300	chr11:9683890-9684058	GM12878	blood:	n/a	n/a
14	EP300	chr11:9679158-9679395	GM12878	blood:	n/a	n/a
15	EP300	chr11:9673035-9674605	SK-N-SH	brain:	n/a	n/a
16	FOS	chr11:9682434-9682811	MCF10A-Er-Src	breast:	n/a	chr11:9682609-9682620
17	FOS	chr11:9682467-9682802	MCF10A-Er-Src	breast:	n/a	chr11:9682609-9682620
18	FOS	chr11:9682455-9682764	MCF10A-Er-Src	breast:	n/a	chr11:9682609-9682620
19	FOS	chr11:9682436-9682801	MCF10A-Er-Src	breast:	n/a	chr11:9682609-9682620
20	FOS	chr11:9682532-9682719	HUVEC	blood vessel:	n/a	chr11:9682609-9682620
21	FOSL2	chr11:9682309-9682921	A549	lung:	n/a	n/a
22	FOSL2	chr11:9682446-9682725	A549	lung:	n/a	n/a
23	GATA1	chr11:9673089-9675029	K562	blood:	n/a	chr11:9674036-9674043 chr11:9673466-9673487 chr11:9673473-9673482 chr11:9673470-9673480 chr11:9673469-9673485 chr11:9674036-9674043 chr11:9674036-9674043 chr11:9673469-9673485
24	IKZF1	chr11:9683905-9684090	GM12878	blood:	n/a	n/a
25	JUN	chr11:9679803-9679963	HepG2	liver:	n/a	chr11:9679895-9679908
26	JUND	chr11:9683350-9683375	HepG2	liver:	n/a	chr11:9683358-9683367
27	JUND	chr11:9679757-9680035	HepG2	liver:	n/a	n/a
28	MAFF	chr11:9683829-9684123	HepG2	liver:	n/a	n/a
29	MAFK	chr11:9683893-9684129	HepG2	liver:	n/a	chr11:9683974-9683989
30	MAFK	chr11:9683837-9684136	HepG2	liver:	n/a	chr11:9683974-9683989
31	MAX	chr11:9683863-9684037	GM12878	blood:	n/a	chr11:9683967-9683977
32	MAX	chr11:9683827-9684189	NB4	blood:	n/a	chr11:9683967-9683977
33	MAZ	chr11:9684068-9684071	GM12878	blood:	n/a	n/a
34	MTA3	chr11:9683702-9684281	GM12878	blood:	n/a	n/a
35	MXI1	chr11:9673116-9674920	SK-N-SH	brain:	n/a	n/a
36	MXI1	chr11:9683774-9684159	GM12878	blood:	n/a	n/a
37	MYC	chr11:9682530-9682715	MCF10A-Er-Src	breast:	n/a	n/a
38	NRF1	chr11:9684044-9684102	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:9681623-9681737	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:9683857-9684373	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:9683923-9684462	Raji	blood:	n/a	n/a
42	RUNX3	chr11:9683691-9684220	GM12878	blood:	n/a	n/a
43	RUNX3	chr11:9683745-9684230	GM12878	blood:	n/a	n/a
44	SETDB1	chr11:9677645-9678037	U2OS	brain:	n/a	n/a
45	SMC3	chr11:9683930-9684150	GM12878	blood:	n/a	n/a
46	SPI1	chr11:9679138-9679484	GM12878	blood:	n/a	n/a
47	SPI1	chr11:9683712-9684381	HL-60	blood:	n/a	chr11:9684002-9684015
48	STAT1	chr11:9683945-9684093	GM12878	blood:	n/a	n/a
49	STAT3	chr11:9682486-9683010	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr11:9682401-9682840	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	chr11:9682641-9682691	H1-hESC	embryonic stem cell:	embryo
2	chr11:9682641-9682691	CMK	blood:	n/a
3	chr11:9682641-9682691	HL-60	blood:	n/a
4	chr11:9682641-9682691	A549	lung:	n/a
5	chr11:9682641-9682691	AG09309	skin:	n/a
6	chr11:9682641-9682691	AG10803	skin:	n/a
7	chr11:9682641-9682691	SKMC	muscle:	n/a
8	chr11:9682641-9682691	PFSK-1	brain:	n/a
9	chr11:9682641-9682691	K562	blood:	n/a
10	chr11:9682641-9682691	SAEC	small airway:	n/a
11	chr11:9682641-9682691	NB4	blood:	n/a
12	chr11:9682641-9682691	HCF	heart:	n/a
13	chr11:9682641-9682691	Jurkat	blood:	n/a
14	chr11:9682641-9682691	HUVEC	blood vessel:	n/a
15	chr11:9682641-9682691	AG04450	lung:	fetal
16	chr11:9682641-9682691	GM19239	blood:	n/a
17	chr11:9682641-9682691	HEEpiC	esophagus:	n/a
18	chr11:9682641-9682691	RPTEC	kidney:	n/a
19	chr11:9682641-9682691	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:9682641-9682691	Hela-S3	cervix:	n/a
21	chr11:9682641-9682691	HEK293	kidney:	embryo
22	chr11:9682641-9682691	NH-A	brain:	n/a
23	chr11:9682641-9682691	HepG2	liver:	n/a
24	chr11:9682641-9682691	PANC-1	pancreas:	n/a
25	chr11:9682641-9682691	HRPEpiC	eye:	n/a
26	chr11:9682641-9682691	GM12892	blood:	n/a
27	chr11:9682641-9682691	HIPEpiC	eye:	n/a
28	chr11:9682641-9682691	BJ	skin:	n/a
29	chr11:9682641-9682691	HMEC	breast:	n/a
30	chr11:9682641-9682691	HCT-116	colon:	n/a
31	chr11:9682641-9682691	ProgFib	skin:	n/a
32	chr11:9682641-9682691	IMR90	lung:	fetal
33	chr11:9682641-9682691	MCF10A-Er-Src	breast:	n/a
34	chr11:9682641-9682691	ovcar-3	ovarian:	n/a
35	chr11:9682641-9682691	HRCEpiC	kidney:	n/a
36	chr11:9682641-9682691	NHDF-neo	bronchial:	n/a
37	chr11:9682641-9682691	SK-N-MC	brain:	n/a
38	chr11:9682641-9682691	NHBE	bronchial:	n/a
39	chr11:9682641-9682691	U87	brain:	n/a
40	chr11:9682641-9682691	HAEpiC	amniotic membrane:	n/a
41	chr11:9682641-9682691	AoSMC	blood vessel:	n/a
42	chr11:9682641-9682691	HNPCEpiC	eye:	n/a
43	chr11:9682641-9682691	GM06990	blood:	n/a
44	chr11:9682641-9682691	ECC-1	luminal epithelium:	n/a
45	chr11:9682641-9682691	Hepatocyte	liver:	n/a
46	chr11:9682641-9682691	SK-N-SH	brain:	n/a
47	chr11:9682641-9682691	GM12891	blood:	n/a
48	chr11:9682641-9682691	LNCaP	prostate:	n/a
49	chr11:9682641-9682691	HCM	heart:	n/a
50	chr11:9682641-9682691	BE2_C	brain:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr11:9634122..9636323-chr11:9682911..9685347,2	MCF-7	breast:
2	chr11:9491884..9494375-chr11:9675961..9678429,2	K562	blood:
3	chr11:9634944..9638366-chr11:9672187..9674812,3	K562	blood:
4	chr11:9683805..9685652-chr11:10315027..10316546,2	MCF-7	breast:
5	chr11:9681496..9684327-chr11:9685314..9687599,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SWAP70-3	chr11:9675815-9676051	NONHSAT017932
2	lnc-SWAP70-3	chr11:9675221-9675555	NONHSAT017932

No data

Variant related genes	Relation type
ENSG00000239470	TF binding region
SWAP70	TF binding region
ENSG00000239470	CpG island
SWAP70	CpG island
ENSG00000133789	chromatin interactions
ENSG00000133812	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:363 , 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	rs187454621	chr11:9674591-9674592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551676436	chr11:9674596-9674597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557212468	chr11:9674601-9674602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79591529	chr11:9674617-9674618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60906818	chr11:9674618-9674619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534206160	chr11:9674636-9674637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554075832	chr11:9674657-9674658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573263939	chr11:9674661-9674662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535863724	chr11:9674663-9674664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149224855	chr11:9674696-9674697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553395715	chr11:9674697-9674698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559176506	chr11:9674701-9674702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10555599	chr11:9674707-9674708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3049765	chr11:9674734-9674735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34067610	chr11:9674760-9674761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555793156	chr11:9674762-9674763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371442867	chr11:9674780-9674781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3905603	chr11:9674783-9674784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369448729	chr11:9674798-9674799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369833636	chr11:9674824-9674825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4114241	chr11:9674826-9674827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144892441	chr11:9674875-9674876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111401351	chr11:9674915-9674916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577159648	chr11:9674925-9674926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1369456	chr11:9674950-9674951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192364071	chr11:9674961-9674962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184093336	chr11:9674962-9674963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561189362	chr11:9674964-9674965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187442318	chr11:9674971-9674972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35161967	chr11:9674975-9674976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560909861	chr11:9674979-9674980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543055946	chr11:9674981-9674982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562914387	chr11:9674986-9674987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531709999	chr11:9675005-9675006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377757293	chr11:9675037-9675038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571730369	chr11:9675046-9675047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527899854	chr11:9675074-9675075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113468736	chr11:9675101-9675102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567619474	chr11:9675147-9675148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111358567	chr11:9675162-9675163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535805238	chr11:9675227-9675228	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528042603	chr11:9675293-9675294	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75966804	chr11:9675328-9675329	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs555730005	chr11:9675357-9675358	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs370780780	chr11:9675404-9675405	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs559437701	chr11:9675479-9675480	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs371555111	chr11:9675535-9675536	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs375783751	chr11:9675627-9675628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558635534	chr11:9675628-9675629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572121448	chr11:9675630-9675631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9673000-9675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:9673200-9674600	Enhancers	HUVEC	blood vessel
3	chr11:9673200-9674800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:9673200-9674800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:9673200-9675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:9673200-9678400	Enhancers	Placenta	Placenta
7	chr11:9673800-9674600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9674000-9684000	Weak transcription	HSMMtube	muscle
9	chr11:9674000-9684800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:9674200-9674800	Enhancers	K562	blood
11	chr11:9674200-9679000	Weak transcription	Aorta	Aorta
12	chr11:9674200-9684800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:9674400-9677800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:9674600-9675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:9675000-9676800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:9677800-9678400	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:9678200-9678400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:9678400-9682200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:9678400-9684000	Weak transcription	Placenta	Placenta
20	chr11:9678400-9684200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:9678800-9679200	Enhancers	GM12878-XiMat	blood
22	chr11:9678800-9680400	Enhancers	HepG2	liver
23	chr11:9679000-9679200	Enhancers	Aorta	Aorta
24	chr11:9679800-9680800	Weak transcription	GM12878-XiMat	blood
25	chr11:9681000-9681200	Weak transcription	GM12878-XiMat	blood
26	chr11:9682000-9685000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:9682200-9682400	Weak transcription	GM12878-XiMat	blood
28	chr11:9682200-9684000	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:9682400-9682600	Enhancers	A549	lung
30	chr11:9682400-9682600	Enhancers	GM12878-XiMat	blood
31	chr11:9682400-9682600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:9682400-9683000	Enhancers	Stomach Mucosa	stomach
33	chr11:9682600-9682800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:9682600-9682800	Enhancers	HMEC	breast
35	chr11:9682600-9683000	Flanking Active TSS	A549	lung
36	chr11:9682600-9683000	Flanking Active TSS	GM12878-XiMat	blood
37	chr11:9682600-9683000	Enhancers	HUVEC	blood vessel
38	chr11:9682600-9685400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:9682800-9683000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr11:9682800-9683000	Enhancers	Spleen	Spleen
41	chr11:9682800-9683000	Enhancers	NHLF	lung
42	chr11:9682800-9684000	Enhancers	Primary B cells from cord blood	blood
43	chr11:9683000-9683200	Enhancers	A549	lung
44	chr11:9683000-9683800	Enhancers	GM12878-XiMat	blood
45	chr11:9683000-9684800	Weak transcription	Spleen	Spleen
46	chr11:9683000-9684800	Weak transcription	HUVEC	blood vessel
47	chr11:9683000-9685000	Weak transcription	Stomach Mucosa	stomach
48	chr11:9683000-9685000	Weak transcription	NHLF	lung
49	chr11:9683200-9684800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:9683200-9684800	Weak transcription	A549	lung

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