Variant report

Variant	nsv553778
Chromosome Location	chr11:24091682-24166232
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	chr11:24160485..24163375-chr11:24163857..24165450,2	MCF-7	breast:
2	chr11:24160485..24163375-chr11:24163857..24165450,2	MCF-7	breast:

Extended variants
information (count: 829 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10834273	chr11:24091682-24091683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549107175	chr11:24091699-24091700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1915070	chr11:24091750-24091751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs202177779	chr11:24091767-24091768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534388349	chr11:24091777-24091778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547701329	chr11:24091803-24091804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571109724	chr11:24091848-24091849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186986395	chr11:24091880-24091881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556474498	chr11:24091897-24091898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576038312	chr11:24091902-24091903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139725502	chr11:24091903-24091904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16912064	chr11:24091943-24091944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192377251	chr11:24091949-24091950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540813975	chr11:24091981-24091982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550156130	chr11:24091986-24091987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61876477	chr11:24092012-24092013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114024282	chr11:24092013-24092014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543351997	chr11:24092025-24092026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563254122	chr11:24092027-24092028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199639581	chr11:24092061-24092062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397849035	chr11:24092062-24092063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200001047	chr11:24092063-24092064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377719805	chr11:24092090-24092091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528885265	chr11:24092104-24092105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370155810	chr11:24092163-24092164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547450264	chr11:24092228-24092229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72881183	chr11:24092267-24092268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139938677	chr11:24092315-24092316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149774803	chr11:24092342-24092343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570960321	chr11:24092348-24092349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556657968	chr11:24092352-24092353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147887311	chr11:24092368-24092369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550198494	chr11:24092400-24092401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2176793	chr11:24092402-24092403	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535437528	chr11:24092490-24092491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371173160	chr11:24092506-24092507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111548112	chr11:24092527-24092528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183292290	chr11:24092534-24092535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188586832	chr11:24092547-24092548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552100228	chr11:24092551-24092552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534832280	chr11:24092592-24092593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557884730	chr11:24092596-24092597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181830833	chr11:24098818-24098819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111655199	chr11:24098828-24098829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552653583	chr11:24098851-24098852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577583147	chr11:24098883-24098884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7118340	chr11:24098885-24098886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113409873	chr11:24098919-24098920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544462601	chr11:24098928-24098929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538300846	chr11:24098940-24098941	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24086400-24091800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:24086400-24091800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:24086800-24091800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:24087400-24092000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:24091600-24092000	Weak transcription	Fetal Brain Male	brain
6	chr11:24091600-24092200	Enhancers	Brain Germinal Matrix	brain
7	chr11:24091800-24092200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:24091800-24092400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:24091800-24092400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:24091800-24092600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:24091800-24092600	Enhancers	Fetal Brain Female	brain
12	chr11:24092000-24092400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:24092000-24092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:24092000-24092600	Enhancers	Fetal Brain Male	brain
15	chr11:24098800-24099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:24099200-24100200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:24099400-24099800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:24099600-24100000	Enhancers	Fetal Lung	lung
19	chr11:24099800-24100200	Enhancers	Stomach Mucosa	stomach
20	chr11:24100200-24101000	Enhancers	Ovary	ovary
21	chr11:24100200-24101400	Enhancers	NHLF	lung
22	chr11:24100200-24101600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:24101600-24104400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:24104000-24104800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:24104400-24105200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:24110600-24111400	Enhancers	Fetal Lung	lung
27	chr11:24111400-24114400	Weak transcription	Fetal Lung	lung
28	chr11:24114400-24114600	Enhancers	Fetal Lung	lung
29	chr11:24114400-24114800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:24114400-24114800	Enhancers	HUVEC	blood vessel
31	chr11:24114600-24115000	Flanking Active TSS	Fetal Lung	lung
32	chr11:24114600-24115200	Enhancers	Dnd41	blood
33	chr11:24114600-24115400	Enhancers	Brain Germinal Matrix	brain
34	chr11:24114800-24115000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:24115000-24116000	Enhancers	Fetal Lung	lung
36	chr11:24115200-24116000	Enhancers	Fetal Brain Female	brain
37	chr11:24122200-24123200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:24128600-24128800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:24136400-24140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:24143800-24144200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:24159000-24159800	Enhancers	HUVEC	blood vessel
42	chr11:24163600-24164600	Enhancers	Dnd41	blood
43	chr11:24163600-24164800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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