Variant report

Variant	nsv972949
Chromosome Location	chr11:47521522-47525037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr11:47524385-47524655	GM12878	blood:	n/a	n/a
2	E2F4	chr11:47524717-47525063	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA2	chr11:47521180-47521639	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr11:47521272-47521612	SH-SY5Y	brain:	n/a	n/a
5	MXI1	chr11:47520935-47521835	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:47523474-47523495	K562	blood:	n/a	n/a
7	POLR2A	chr11:47521172-47521555	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr11:47521149-47521616	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:47523420-47523459	K562	blood:	n/a	n/a
10	POLR2A	chr11:47521546-47521553	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:47520959-47521555	PFSK-1	brain:	n/a	n/a
12	SMC3	chr11:47521951-47521957	GM12878	blood:	n/a	n/a
13	SPI1	chr11:47521279-47521596	GM12891	blood:	n/a	n/a
14	SPI1	chr11:47524380-47524639	GM12891	blood:	n/a	n/a
15	TBL1XR1	chr11:47521511-47521695	GM12878	blood:	n/a	n/a
16	TCF3	chr11:47524294-47524630	GM12878	blood:	n/a	n/a
17	TCF3	chr11:47524382-47524599	GM12878	blood:	n/a	n/a
18	WRNIP1	chr11:47521591-47521754	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47521843..47524187-chr11:47526565..47529247,2	MCF-7	breast:
2	chr11:47517168..47520094-chr11:47522959..47526818,3	K562	blood:
3	chr11:47519377..47521750-chr11:47574004..47575986,3	MCF-7	breast:
4	chr11:47495927..47498888-chr11:47520821..47523109,2	MCF-7	breast:
5	chr11:47524421..47526189-chr11:47528668..47531487,2	K562	blood:
6	chr11:47522240..47523818-chr11:47530043..47531657,2	K562	blood:
7	chr11:47508773..47510802-chr11:47519737..47522301,2	MCF-7	breast:
8	chr11:47515511..47517710-chr11:47521817..47524345,2	MCF-7	breast:

No data

Variant related genes	Relation type
CELF1	TF binding region
ENSG00000149187	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552865968	chr11:47521532-47521533	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs67132220	chr11:47521557-47521558	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545355879	chr11:47521575-47521576	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565167756	chr11:47521597-47521598	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575357438	chr11:47521601-47521602	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544180277	chr11:47521699-47521700	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561045741	chr11:47521728-47521729	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529717948	chr11:47521732-47521733	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562692602	chr11:47521744-47521745	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79134706	chr11:47521748-47521749	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs76591165	chr11:47521749-47521750	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs193228307	chr11:47521761-47521762	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560549169	chr11:47521764-47521765	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532731922	chr11:47521776-47521777	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189239573	chr11:47521782-47521783	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35179619	chr11:47521799-47521800	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569163743	chr11:47521817-47521818	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537860781	chr11:47521858-47521859	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75449951	chr11:47521945-47521946	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs141388480	chr11:47521976-47521977	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117725028	chr11:47521999-47522000	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189406700	chr11:47522045-47522046	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534062126	chr11:47522059-47522060	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145008214	chr11:47522064-47522065	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572993713	chr11:47522074-47522075	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181124617	chr11:47522114-47522115	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557559941	chr11:47522237-47522238	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs186362758	chr11:47522250-47522251	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544238607	chr11:47522273-47522274	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138786347	chr11:47522314-47522315	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs142051738	chr11:47522351-47522352	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548060350	chr11:47522371-47522372	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191607992	chr11:47522426-47522427	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150427291	chr11:47522455-47522456	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78613553	chr11:47522488-47522489	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545950899	chr11:47522533-47522534	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369735085	chr11:47522544-47522545	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111718844	chr11:47522545-47522546	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116011051	chr11:47522669-47522670	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531856472	chr11:47522679-47522680	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs80188785	chr11:47522714-47522715	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370112053	chr11:47522749-47522750	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188713398	chr11:47522771-47522772	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373864483	chr11:47522784-47522785	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs181513551	chr11:47522809-47522810	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75125380	chr11:47522813-47522814	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35189700	chr11:47522875-47522876	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372730506	chr11:47522877-47522878	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397767820	chr11:47522878-47522879	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138060181	chr11:47522915-47522916	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	18438408	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
small cell lung cancer	20016488	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
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
2	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
3	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
4	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47508800-47521600	Weak transcription	Fetal Brain Female	brain
7	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:47510200-47536800	Weak transcription	Fetal Kidney	kidney
10	chr11:47510800-47529800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:47511000-47525000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:47511200-47528600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:47513000-47525000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:47513200-47523000	Strong transcription	Dnd41	blood
15	chr11:47513400-47521800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:47513400-47528400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:47513800-47523000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:47514400-47522800	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:47515600-47528200	Weak transcription	NH-A	brain
20	chr11:47516400-47523000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:47516800-47522200	Weak transcription	Placenta	Placenta
22	chr11:47516800-47523000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:47516800-47530200	Weak transcription	Colonic Mucosa	Colon
24	chr11:47517200-47523000	Enhancers	Fetal Heart	heart
25	chr11:47517400-47521600	Enhancers	Aorta	Aorta
26	chr11:47517400-47523400	Strong transcription	NHEK	skin
27	chr11:47517600-47523800	Enhancers	Colon Smooth Muscle	Colon
28	chr11:47517800-47521800	Flanking Active TSS	Liver	Liver
29	chr11:47518000-47522200	Weak transcription	Osteobl	bone
30	chr11:47518400-47521800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:47518600-47522600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:47518600-47526200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:47519000-47529200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:47519200-47523200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:47519200-47526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:47519200-47527000	Strong transcription	Hela-S3	cervix
37	chr11:47519400-47523400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:47519600-47524800	Enhancers	Brain Anterior Caudate	brain
39	chr11:47519800-47521600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:47519800-47521600	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:47519800-47521600	Enhancers	Gastric	stomach
42	chr11:47519800-47521600	Enhancers	Right Ventricle	heart
43	chr11:47519800-47521800	Enhancers	Ovary	ovary
44	chr11:47519800-47522000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:47519800-47523000	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:47519800-47523000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:47519800-47523200	Enhancers	Brain Angular Gyrus	brain
48	chr11:47519800-47523200	Enhancers	Brain Hippocampus Middle	brain
49	chr11:47520000-47521600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:47520000-47522200	Strong transcription	HMEC	breast

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