Variant report

Variant	nsv897070
Chromosome Location	chr11:23982573-24074207
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	chr11:23993865..23994676-chr11:24177072..24177577,2	MCF-7	breast:
2	chr11:24050963..24051741-chr2:171698003..171698753,2	MCF-7	breast:

Extended variants
information (count: 1674 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1879230	chr11:23982573-23982574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185823511	chr11:23982593-23982594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190976640	chr11:23982624-23982625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562551891	chr11:23982629-23982630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531211553	chr11:23982632-23982633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115448579	chr11:23982652-23982653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557751300	chr11:23982665-23982666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182672990	chr11:23982747-23982748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527553029	chr11:23982758-23982759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547216682	chr11:23982804-23982805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139502887	chr11:23982806-23982807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10562669	chr11:23982821-23982822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60787086	chr11:23982822-23982823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143234836	chr11:23982868-23982869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74440393	chr11:23982898-23982899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3992999	chr11:23982899-23982900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557255130	chr11:23982916-23982917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575315257	chr11:23982931-23982932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74811071	chr11:23982956-23982957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554965420	chr11:23983041-23983042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561055864	chr11:23983049-23983050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572837605	chr11:23983052-23983053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372249073	chr11:23983073-23983074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367897800	chr11:23983111-23983112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80021896	chr11:23983127-23983128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117684641	chr11:23983175-23983176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187742969	chr11:23983178-23983179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577364998	chr11:23983230-23983231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139967729	chr11:23983243-23983244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200615994	chr11:23983244-23983245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs33977478	chr11:23983245-23983246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202005057	chr11:23983249-23983250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556602952	chr11:23983342-23983343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555996377	chr11:23983356-23983357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575697832	chr11:23983361-23983362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147500141	chr11:23983381-23983382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561325289	chr11:23983390-23983391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370853846	chr11:23983403-23983404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550871787	chr11:23983406-23983407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4077181	chr11:23983409-23983410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4385898	chr11:23983467-23983468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564351161	chr11:23983516-23983517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532983215	chr11:23983519-23983520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77033677	chr11:23983526-23983527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75830462	chr11:23983566-23983567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374563403	chr11:23983568-23983569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531810185	chr11:23983573-23983574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191035941	chr11:23983576-23983577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560713985	chr11:23983606-23983607	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78624248	chr11:23983615-23983616	Strong transcription	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:23981800-23983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:23981800-23983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:23983000-23983200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:23983600-23984400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:23984400-23988000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:23989800-23990000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:23990000-23993800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:23993800-23995800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:23994000-23995600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:23994000-23996200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr11:23994200-23994400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:23994200-23994800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:23994200-23996000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr11:23994400-23996000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:23994600-23995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:23994600-23995800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:23994600-23999600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:23994800-23995800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:23994800-23995800	Enhancers	NH-A	brain
20	chr11:23994800-23996000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:23994800-23998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:23995000-23995400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:23995200-23995800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:23995400-23995800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:23995400-23995800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:23995600-23996000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:23995600-23996000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:23995800-23996000	Enhancers	Osteobl	bone
29	chr11:23995800-23998000	Weak transcription	NH-A	brain
30	chr11:23995800-23999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:23995800-23999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:23996000-23996200	Enhancers	NHLF	lung
33	chr11:23996000-23996600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:23996000-23997400	Weak transcription	Osteobl	bone
35	chr11:23996600-23998000	Weak transcription	NHLF	lung
36	chr11:23997400-23998000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:23997400-23998200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:23997400-23999400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr11:23997400-23999600	Enhancers	Osteobl	bone
40	chr11:23997800-23998000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:23998000-23998400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:23998000-23998400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:23998000-23998400	Enhancers	NHLF	lung
44	chr11:23998000-23998600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:23998000-23999600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:23998000-23999600	Enhancers	NH-A	brain
47	chr11:23998200-23999000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:23998400-23999000	Weak transcription	NHLF	lung
49	chr11:23998400-23999200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:23998400-23999200	Enhancers	HSMM	muscle

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