Variant report

Variant	nsv553776
Chromosome Location	chr11:24010530-24085740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:24050963..24051741-chr2:171698003..171698753,2	MCF-7	breast:

Extended variants
information (count: 637 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2946788	chr11:24010530-24010531	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544957860	chr11:24010535-24010536	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs190402184	chr11:24010558-24010559	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117112917	chr11:24010577-24010578	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7940322	chr11:24010609-24010610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544047153	chr11:24010610-24010611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560754331	chr11:24010627-24010628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114090594	chr11:24010662-24010663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148842471	chr11:24010721-24010722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60545277	chr11:24010762-24010763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59774191	chr11:24010768-24010769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528516376	chr11:24010769-24010770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551469990	chr11:24010771-24010772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565620129	chr11:24010786-24010787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182120483	chr11:24010818-24010819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564197759	chr11:24010837-24010838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531355506	chr11:24010840-24010841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186804232	chr11:24010866-24010867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536417911	chr11:24010867-24010868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546702515	chr11:24010942-24010943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566427361	chr11:24010956-24010957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111389827	chr11:24011022-24011023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558125714	chr11:24011031-24011032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139094235	chr11:24011066-24011067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537759746	chr11:24011116-24011117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554410949	chr11:24011144-24011145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574599539	chr11:24011153-24011154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191847199	chr11:24011184-24011185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183997844	chr11:24011185-24011186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561851306	chr11:24011236-24011237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554602611	chr11:24011258-24011259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79712258	chr11:24011281-24011282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545466540	chr11:24011330-24011331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376206964	chr11:24011334-24011335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565283624	chr11:24011345-24011346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112798947	chr11:24011384-24011385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188892215	chr11:24011432-24011433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111720510	chr11:24011443-24011444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11027652	chr11:24011508-24011509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546865758	chr11:24011511-24011512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566607397	chr11:24011525-24011526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532108883	chr11:24011556-24011557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551817110	chr11:24011568-24011569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146450712	chr11:24011584-24011585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566283105	chr11:24011585-24011586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11027653	chr11:24011624-24011625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568563062	chr11:24011645-24011646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554474203	chr11:24011654-24011655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184483776	chr11:24011664-24011665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534033484	chr11:24011737-24011738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23999200-24012400	Weak transcription	NHLF	lung
2	chr11:24009600-24010600	Active TSS	A549	lung
3	chr11:24009600-24010800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr11:24009600-24011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:24009800-24010800	Enhancers	HUVEC	blood vessel
6	chr11:24010000-24010600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:24010000-24010800	Weak transcription	Osteobl	bone
8	chr11:24010200-24010600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:24010200-24012000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:24010400-24013000	Weak transcription	NH-A	brain
11	chr11:24010600-24010800	Enhancers	A549	lung
12	chr11:24010600-24013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:24010800-24012200	Weak transcription	A549	lung
14	chr11:24010800-24012600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:24010800-24013800	Weak transcription	HUVEC	blood vessel
16	chr11:24010800-24013800	Enhancers	Osteobl	bone
17	chr11:24011400-24013800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:24012000-24012400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:24012000-24013200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:24012000-24014000	Enhancers	Fetal Stomach	stomach
21	chr11:24012200-24012600	Enhancers	A549	lung
22	chr11:24012200-24013000	Enhancers	Stomach Mucosa	stomach
23	chr11:24012200-24013800	Enhancers	Fetal Lung	lung
24	chr11:24012400-24013200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:24012400-24013600	Enhancers	NHLF	lung
26	chr11:24012400-24013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:24012600-24012800	Enhancers	HSMM	muscle
28	chr11:24012600-24013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:24012600-24013600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr11:24012600-24013800	Enhancers	Ovary	ovary
31	chr11:24013000-24013200	Enhancers	NH-A	brain
32	chr11:24013000-24016200	Weak transcription	Stomach Mucosa	stomach
33	chr11:24013400-24013600	Enhancers	HSMM	muscle
34	chr11:24013800-24014400	Enhancers	HUVEC	blood vessel
35	chr11:24013800-24015000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:24015000-24017400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:24015200-24015800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:24016200-24017400	Enhancers	Stomach Mucosa	stomach
39	chr11:24017000-24018200	Enhancers	Hela-S3	cervix
40	chr11:24025600-24026000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:24026400-24026800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr11:24026600-24027000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:24026600-24027000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:24026600-24027400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:24026600-24027800	Enhancers	Stomach Mucosa	stomach
46	chr11:24028400-24028800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr11:24035600-24036000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:24051000-24052200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:24056200-24057400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:24065200-24065600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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