Variant report

Variant	nsv554096
Chromosome Location	chr11:41804163-41828348
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:184)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:41807414-41807643	MCF-7	breast:	n/a	n/a
2	CTCF	chr11:41815549-41815594	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr11:41815187-41815251	GM20000	blood:	n/a	n/a
4	E2F4	chr11:41806568-41806768	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr11:41820675-41820809	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr11:41806264-41806900	MCF-7	breast:	n/a	n/a
7	FOS	chr11:41816629-41816909	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:41806346-41806914	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:41807375-41807675	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:41811034-41811304	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr11:41806155-41807136	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr11:41816589-41816916	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:41816589-41816915	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:41807296-41807640	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:41806234-41806889	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:41806126-41807900	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr11:41806290-41806880	MCF-7	breast:	n/a	n/a
18	FOSL2	chr11:41806340-41806958	MCF-7	breast:	n/a	n/a
19	GATA3	chr11:41806158-41806938	MCF-7	breast:	n/a	n/a
20	GATA3	chr11:41804178-41804604	T-47D	breast:	n/a	n/a
21	GATA3	chr11:41804268-41804644	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr11:41806173-41806922	MCF-7	breast:	n/a	n/a
23	GATA3	chr11:41804221-41804549	T-47D	breast:	n/a	n/a
24	GATA3	chr11:41822786-41822980	SH-SY5Y	brain:	n/a	n/a
25	HDAC2	chr11:41806199-41806910	MCF-7	breast:	n/a	n/a
26	JUN	chr11:41806491-41806691	HepG2	liver:	n/a	n/a
27	JUND	chr11:41816632-41816825	HepG2	liver:	n/a	chr11:41816755-41816766
28	JUND	chr11:41806297-41806896	MCF-7	breast:	n/a	chr11:41806604-41806615
29	JUND	chr11:41804157-41804695	T-47D	breast:	n/a	n/a
30	JUND	chr11:41806232-41806985	MCF-7	breast:	n/a	chr11:41806604-41806615
31	JUND	chr11:41806494-41806735	HepG2	liver:	n/a	chr11:41806604-41806615
32	MAFF	chr11:41807574-41807990	HepG2	liver:	n/a	n/a
33	MAFF	chr11:41813534-41813763	HepG2	liver:	n/a	chr11:41813590-41813608
34	MAFF	chr11:41807730-41807805	K562	blood:	n/a	n/a
35	MAFK	chr11:41807619-41808003	HepG2	liver:	n/a	n/a
36	MAFK	chr11:41807635-41807772	K562	blood:	n/a	n/a
37	MAFK	chr11:41813607-41813755	HepG2	liver:	n/a	chr11:41813664-41813679
38	MAFK	chr11:41813524-41813789	HepG2	liver:	n/a	chr11:41813664-41813679
39	MAFK	chr11:41807576-41807935	HepG2	liver:	n/a	n/a
40	MAFK	chr11:41811513-41811711	HepG2	liver:	n/a	n/a
41	MAZ	chr11:41822151-41822191	HepG2	liver:	n/a	n/a
42	MYC	chr11:41806399-41806762	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr11:41806516-41806818	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr11:41807390-41807638	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr11:41807428-41807660	MCF10A-Er-Src	breast:	n/a	n/a
46	NR2F2	chr11:41806197-41806932	MCF-7	breast:	n/a	n/a
47	NR2F2	chr11:41806246-41806926	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:41820939-41820947	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:41822699-41822802	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:41820084-41820089	MCF10A-Er-Src	breast:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:41809839-41809889	HCM	heart:	n/a
2	chr11:41809839-41809889	HCM	heart:	n/a
3	chr11:41809839-41809889	NHDF-neo	bronchial:	n/a
4	chr11:41809835-41809885	GM12878	blood:	n/a
5	chr11:41809835-41809885	NHDF-neo	bronchial:	n/a
6	chr11:41809835-41809885	NH-A	brain:	n/a
7	chr11:41809894-41809944	AG04449	skin:	fetal
8	chr11:41809835-41809885	ovcar-3	ovarian:	n/a
9	chr11:41809894-41809944	HEK293	kidney:	embryo
10	chr11:41809835-41809885	AoSMC	blood vessel:	n/a
11	chr11:41809835-41809885	CMK	blood:	n/a
12	chr11:41809894-41809944	SKMC	muscle:	n/a
13	chr11:41809839-41809889	HCT-116	colon:	n/a
14	chr11:41809835-41809885	AG04449	skin:	fetal
15	chr11:41809835-41809885	U87	brain:	n/a
16	chr11:41809894-41809944	SK-N-SH_RA	brain:	n/a
17	chr11:41809839-41809889	HEK293	kidney:	embryo
18	chr11:41809839-41809889	HL-60	blood:	n/a
19	chr11:41809839-41809889	HCF	heart:	n/a
20	chr11:41809835-41809885	AG09319	gingival:	n/a
21	chr11:41809894-41809944	GM12892	blood:	n/a
22	chr11:41809894-41809944	HCM	heart:	n/a
23	chr11:41809839-41809889	GM19239	blood:	n/a
24	chr11:41809894-41809944	AG09309	skin:	n/a
25	chr11:41809835-41809885	HIPEpiC	eye:	n/a
26	chr11:41809835-41809885	SKMC	muscle:	n/a
27	chr11:41809839-41809889	A549	lung:	n/a
28	chr11:41809835-41809885	H1-hESC	embryonic stem cell:	embryo
29	chr11:41809839-41809889	HAEpiC	amniotic membrane:	n/a
30	chr11:41809839-41809889	HepG2	liver:	n/a
31	chr11:41809839-41809889	AoSMC	blood vessel:	n/a
32	chr11:41809839-41809889	PANC-1	pancreas:	n/a
33	chr11:41809835-41809885	PrEC	prostate:	n/a
34	chr11:41809839-41809889	GM12891	blood:	n/a
35	chr11:41809835-41809885	BJ	skin:	n/a
36	chr11:41809839-41809889	PFSK-1	brain:	n/a
37	chr11:41809894-41809944	HRPEpiC	eye:	n/a
38	chr11:41809835-41809885	HRE	kidney:	n/a
39	chr11:41809839-41809889	HRPEpiC	eye:	n/a
40	chr11:41809839-41809889	ovcar-3	ovarian:	n/a
41	chr11:41809894-41809944	ECC-1	luminal epithelium:	n/a
42	chr11:41809839-41809889	SK-N-SH	brain:	n/a
43	chr11:41809835-41809885	AG09309	skin:	n/a
44	chr11:41809839-41809889	AG09319	gingival:	n/a
45	chr11:41809894-41809944	HRE	kidney:	n/a
46	chr11:41809835-41809885	HNPCEpiC	eye:	n/a
47	chr11:41809894-41809944	HCF	heart:	n/a
48	chr11:41809839-41809889	LNCaP	prostate:	n/a
49	chr11:41809839-41809889	SKMC	muscle:	n/a
50	chr11:41809839-41809889	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:
2	chr11:41806608..41809521-chr11:41868668..41871358,2	MCF-7	breast:
3	chr11:41822866..41824596-chr11:41828045..41830066,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-API5-10	chr11:41819093-41819514	NONHSAT018894

No data

Variant related genes	Relation type
ENSG00000254668	TF binding region
ENSG00000254668	CpG island

Extended variants
information (count: 728 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112348407	chr11:41804163-41804164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113235656	chr11:41804167-41804168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117565554	chr11:41804187-41804188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181527686	chr11:41804210-41804211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376811828	chr11:41804324-41804325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12789180	chr11:41804346-41804347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs76155585	chr11:41804435-41804436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560067875	chr11:41804458-41804459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531904090	chr11:41804479-41804480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550085222	chr11:41804487-41804488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145503873	chr11:41804519-41804520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535943618	chr11:41804553-41804554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554254766	chr11:41804573-41804574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147600923	chr11:41804593-41804594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16935983	chr11:41804594-41804595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs571326466	chr11:41804630-41804631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545479097	chr11:41804631-41804632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544425712	chr11:41804682-41804683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574073795	chr11:41804686-41804687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140770569	chr11:41804703-41804704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373435809	chr11:41804707-41804708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149674885	chr11:41804725-41804726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112968831	chr11:41804751-41804752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527256976	chr11:41804772-41804773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546108879	chr11:41804801-41804802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564828553	chr11:41804805-41804806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531895353	chr11:41804863-41804864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187627153	chr11:41804888-41804889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61884334	chr11:41804892-41804893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550390199	chr11:41804909-41804910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377472902	chr11:41804950-41804951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368743511	chr11:41804951-41804952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531400205	chr11:41804988-41804989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529410254	chr11:41805040-41805041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548318664	chr11:41805051-41805052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547872639	chr11:41805052-41805053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566095581	chr11:41805114-41805115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539816470	chr11:41805154-41805155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148815996	chr11:41805157-41805158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374604541	chr11:41805180-41805181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551465159	chr11:41805278-41805279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570761724	chr11:41805284-41805285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145579103	chr11:41805299-41805300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556323331	chr11:41805302-41805303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116073417	chr11:41805306-41805307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535189540	chr11:41805317-41805318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553421814	chr11:41805369-41805370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571784549	chr11:41805395-41805396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527546072	chr11:41805409-41805410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150095199	chr11:41805437-41805438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
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
Gastric cancer	17908304	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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cancer	20164919	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:41801400-41806200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr11:41803200-41805000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:41803200-41805200	Weak transcription	Fetal Intestine Large	intestine
4	chr11:41803600-41806200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:41805000-41805600	Enhancers	Stomach Mucosa	stomach
6	chr11:41805000-41808000	Enhancers	Fetal Intestine Small	intestine
7	chr11:41805200-41808400	Enhancers	Fetal Intestine Large	intestine
8	chr11:41805600-41806200	Weak transcription	Stomach Mucosa	stomach
9	chr11:41805600-41808400	Enhancers	HMEC	breast
10	chr11:41806000-41806600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:41806200-41806600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:41806200-41806600	Enhancers	Stomach Mucosa	stomach
13	chr11:41806200-41806800	Enhancers	NH-A	brain
14	chr11:41806200-41807000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:41806200-41807000	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:41806200-41807200	Enhancers	NHEK	skin
17	chr11:41806200-41807600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:41806600-41807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:41806600-41807400	Weak transcription	Stomach Mucosa	stomach
20	chr11:41806600-41807600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:41807000-41808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:41807000-41809800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:41807400-41807600	Enhancers	Stomach Mucosa	stomach
24	chr11:41807400-41808200	Enhancers	Fetal Kidney	kidney
25	chr11:41807600-41808000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:41807600-41812000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:41808400-41810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:41808400-41810600	Weak transcription	HMEC	breast
29	chr11:41810600-41811400	Enhancers	HMEC	breast
30	chr11:41810600-41812000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:41819200-41822000	Enhancers	Fetal Intestine Small	intestine
32	chr11:41820400-41822200	Enhancers	Fetal Intestine Large	intestine
33	chr11:41821000-41822000	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:41821200-41822000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:41822000-41825800	Weak transcription	Fetal Intestine Small	intestine
36	chr11:41825800-41826000	ZNF genes & repeats	Fetal Intestine Small	intestine

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