Variant report

Variant	nsv1051026
Chromosome Location	chr11:24214723-24260429
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	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:
2	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-17A1.2.1-3	chr11:24257023-24257051	ENSG00000254594

Extended variants
information (count: 330 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553337365	chr11:24216437-24216438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113322540	chr11:24216462-24216463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7933418	chr11:24216464-24216465	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147142714	chr11:24216468-24216469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190971833	chr11:24216546-24216547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573127013	chr11:24216551-24216552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575122580	chr11:24216567-24216568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs540531926	chr11:24216596-24216597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567205527	chr11:24219813-24219814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376531661	chr11:24219815-24219816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560540493	chr11:24219848-24219849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564618937	chr11:24219866-24219867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74782867	chr11:24219893-24219894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542089624	chr11:24219894-24219895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190494631	chr11:24219899-24219900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535311519	chr11:24219911-24219912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75738228	chr11:24219949-24219950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578253719	chr11:24219960-24219961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576719920	chr11:24220006-24220007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537400831	chr11:24220017-24220018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373083507	chr11:24220065-24220066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370137085	chr11:24220111-24220112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7942689	chr11:24220130-24220131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574041415	chr11:24220146-24220147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543140984	chr11:24220197-24220198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114386202	chr11:24220206-24220207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144801572	chr11:24220214-24220215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370099457	chr11:24220233-24220234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544817076	chr11:24220234-24220235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183750526	chr11:24220256-24220257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530715272	chr11:24220276-24220277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186871927	chr11:24220299-24220300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191348840	chr11:24220302-24220303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572452321	chr11:24220332-24220333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529741167	chr11:24220346-24220347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546704761	chr11:24220361-24220362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183172577	chr11:24220377-24220378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186638517	chr11:24220379-24220380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191288133	chr11:24220394-24220395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552013504	chr11:24220409-24220410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571922620	chr11:24220418-24220419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537794958	chr11:24220463-24220464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557063287	chr11:24220506-24220507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567677717	chr11:24220519-24220520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536271723	chr11:24220555-24220556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556536975	chr11:24220563-24220564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183089617	chr11:24220578-24220579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12286254	chr11:24220579-24220580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs76120858	chr11:24220597-24220598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12273122	chr11:24220599-24220600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24216400-24216600	ZNF genes & repeats	Right Atrium	heart
2	chr11:24219800-24220400	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:24220000-24220600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:24236200-24237000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:24248200-24248600	Enhancers	HepG2	liver
6	chr11:24248200-24249000	Enhancers	Stomach Mucosa	stomach
7	chr11:24248400-24249000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:24255600-24257000	Enhancers	Stomach Mucosa	stomach
9	chr11:24255800-24257000	Enhancers	Gastric	stomach
10	chr11:24256200-24256800	Enhancers	Pancreas	Pancrea
11	chr11:24256200-24257200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:24256400-24256600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:24256400-24257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:24257200-24260200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:24259800-24262800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:24259800-24262800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:24260200-24261800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:24260400-24261400	Enhancers	Colon Smooth Muscle	Colon

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