Variant report

Variant	nsv553868
Chromosome Location	chr11:25550330-25583772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:25564061-25564326	HepG2	liver:	n/a	chr11:25564202-25564213
2	CEBPB	chr11:25581962-25582274	HepG2	liver:	n/a	chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582118-25582127 chr11:25582116-25582129 chr11:25582116-25582129 chr11:25582116-25582127 chr11:25582117-25582128
3	CEBPB	chr11:25559142-25559348	A549	lung:	n/a	chr11:25559275-25559286
4	CEBPB	chr11:25564104-25564335	H1-hESC	embryonic stem cell:	n/a	chr11:25564202-25564213
5	CEBPB	chr11:25557121-25557458	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:25564768-25564859	K562	blood:	n/a	n/a
7	FOS	chr11:25557050-25557254	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:25557044-25557245	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA2	chr11:25564654-25564909	A549	lung:	n/a	n/a
10	GATA3	chr11:25550736-25550833	SH-SY5Y	brain:	n/a	chr11:25550768-25550789
11	MAFK	chr11:25583428-25583467	K562	blood:	n/a	n/a
12	MAZ	chr11:25578700-25578851	HepG2	liver:	n/a	n/a
13	MAZ	chr11:25582317-25582484	HepG2	liver:	n/a	n/a
14	NFYB	chr11:25581262-25581480	GM12878	blood:	n/a	chr11:25581434-25581447 chr11:25581436-25581448 chr11:25581433-25581447
15	POLR2A	chr11:25556137-25556204	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr11:25574342-25574461	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:25574173-25574224	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:25568749-25569338	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr11:25570031-25570226	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:25564768-25564836	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr11:25568599-25569303	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr11:25566140-25566297	MCF10A-Er-Src	breast:	n/a	n/a
23	REST	chr11:25568592-25569327	H1-neurons	neurons:	n/a	n/a
24	STAT3	chr11:25572362-25572531	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr11:25574761-25574862	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr11:25574685-25574818	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:
2	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:

Variant related genes	Relation type
ENSG00000265837	TF binding region

Extended variants
information (count: 537 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7102609	chr11:25550604-25550605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532664313	chr11:25550671-25550672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562167945	chr11:25550680-25550681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562724918	chr11:25550689-25550690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191659939	chr11:25550690-25550691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10647893	chr11:25550731-25550732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35596589	chr11:25550743-25550744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201747421	chr11:25550744-25550745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550790203	chr11:25550906-25550907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545297424	chr11:25550936-25550937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560056720	chr11:25550963-25550964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527677026	chr11:25551056-25551057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181279212	chr11:25551064-25551065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561033339	chr11:25551084-25551085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531850379	chr11:25551097-25551098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61897210	chr11:25551126-25551127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550081308	chr11:25551137-25551138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571817700	chr11:25551264-25551265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10573747	chr11:25551314-25551315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397849617	chr11:25551317-25551318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7942750	chr11:25551342-25551343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142487119	chr11:25551360-25551361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566401782	chr11:25551367-25551368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376661019	chr11:25551369-25551370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533753571	chr11:25551386-25551387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10597121	chr11:25551394-25551395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67513611	chr11:25551404-25551405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28651023	chr11:25551409-25551410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11028753	chr11:25551485-25551486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573626447	chr11:25551486-25551487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80288696	chr11:25551503-25551504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33961406	chr11:25551504-25551505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537949910	chr11:25551550-25551551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73429540	chr11:25551571-25551572	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143396932	chr11:25551585-25551586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185873337	chr11:25551586-25551587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545530624	chr11:25551605-25551606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386751796	chr11:25551631-25551632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3864864	chr11:25551633-25551634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs148373619	chr11:25551743-25551744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571612737	chr11:25551752-25551753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538911177	chr11:25551758-25551759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550998324	chr11:25551766-25551767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560971962	chr11:25551767-25551768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140470420	chr11:25551778-25551779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557152105	chr11:25551788-25551789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150396830	chr11:25551814-25551815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138353764	chr11:25551838-25551839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142868422	chr11:25551862-25551863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566342035	chr11:25551895-25551896	Weak transcription	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25550600-25551400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr11:25551000-25551200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr11:25551000-25551600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:25551000-25551800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:25551200-25552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:25552200-25553400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:25556200-25558200	Enhancers	Fetal Lung	lung
8	chr11:25556600-25558200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:25556800-25558200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:25557200-25557400	Enhancers	Ovary	ovary
11	chr11:25557200-25557600	Enhancers	Adipose Nuclei	Adipose
12	chr11:25557200-25557600	Enhancers	Fetal Muscle Leg	muscle
13	chr11:25557200-25558200	Enhancers	Fetal Stomach	stomach
14	chr11:25557400-25558000	Enhancers	Brain Germinal Matrix	brain
15	chr11:25558000-25558200	Enhancers	Ovary	ovary
16	chr11:25565800-25566600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:25566200-25566400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:25566400-25568800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:25566600-25569600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:25568400-25569000	Enhancers	Fetal Muscle Leg	muscle
21	chr11:25568800-25569000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:25568800-25569200	Enhancers	Fetal Stomach	stomach
23	chr11:25569000-25569600	Weak transcription	Fetal Muscle Leg	muscle
24	chr11:25569000-25569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:25569000-25570200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:25569600-25569800	Enhancers	Fetal Muscle Leg	muscle
27	chr11:25569600-25570200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:25569600-25570200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:25569800-25570200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:25579200-25579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:25581000-25581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:25581000-25581800	Enhancers	NHEK	skin
33	chr11:25581400-25586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:25581800-25587800	Weak transcription	NHEK	skin
35	chr11:25583600-25585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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