Variant report

Variant	nsv517822
Chromosome Location	chr11:57728993-57751001
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	chr11:57735311..57737451-chr11:57741969..57744523,2	K562	blood:
2	chr11:57735311..57737451-chr11:57741969..57744523,2	K562	blood:

Extended variants
information (count: 694 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374195989	chr11:57732054-57732055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559588286	chr11:57732061-57732062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574689576	chr11:57732067-57732068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184760999	chr11:57732083-57732084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561239077	chr11:57732130-57732131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77189393	chr11:57732145-57732146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141704675	chr11:57732180-57732181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11606659	chr11:57732200-57732201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143825542	chr11:57732209-57732210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532656383	chr11:57732231-57732232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544346572	chr11:57732252-57732253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374618649	chr11:57732307-57732308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148164512	chr11:57732347-57732348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565887069	chr11:57732393-57732394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78806044	chr11:57732416-57732417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189249431	chr11:57732481-57732482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181523145	chr11:57732483-57732484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558379025	chr11:57732504-57732505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2136726	chr11:57732532-57732533	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs558579886	chr11:57732535-57732536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140141848	chr11:57732554-57732555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543463998	chr11:57732588-57732589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540244877	chr11:57732590-57732591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553314558	chr11:57732600-57732601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574538800	chr11:57732607-57732608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185824299	chr11:57732670-57732671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563524439	chr11:57732671-57732672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576441458	chr11:57732689-57732690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34072837	chr11:57732694-57732695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7107115	chr11:57732706-57732707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117047198	chr11:57732743-57732744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190294487	chr11:57732758-57732759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547643248	chr11:57732778-57732779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559642790	chr11:57732780-57732781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36035462	chr11:57732792-57732793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576829885	chr11:57732825-57732826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530453677	chr11:57732875-57732876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7110490	chr11:57732876-57732877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181177134	chr11:57732965-57732966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573549589	chr11:57732999-57733000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559211673	chr11:57733072-57733073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12291403	chr11:57733073-57733074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369699753	chr11:57733107-57733108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534618963	chr11:57733118-57733119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540934215	chr11:57733137-57733138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553273689	chr11:57733159-57733160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185966205	chr11:57733172-57733173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137956079	chr11:57733182-57733183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190870397	chr11:57733203-57733204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575442503	chr11:57733213-57733214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57732000-57732600	Enhancers	K562	blood
2	chr11:57732200-57732600	Enhancers	HepG2	liver
3	chr11:57732600-57735800	Weak transcription	HepG2	liver
4	chr11:57735800-57739800	Enhancers	HepG2	liver
5	chr11:57738600-57738800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:57738600-57738800	Enhancers	Pancreas	Pancrea
7	chr11:57738800-57739000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:57738800-57740200	Weak transcription	Pancreas	Pancrea
9	chr11:57738800-57740400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:57738800-57745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:57739000-57742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:57739600-57740000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr11:57739800-57740600	Flanking Active TSS	HepG2	liver
14	chr11:57740000-57742200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:57740200-57740600	Enhancers	Pancreas	Pancrea
16	chr11:57740600-57742200	Weak transcription	Pancreas	Pancrea
17	chr11:57740600-57742800	Enhancers	HepG2	liver
18	chr11:57741600-57743400	Enhancers	HSMM	muscle
19	chr11:57741600-57743600	Enhancers	HSMMtube	muscle
20	chr11:57742200-57742600	Enhancers	Brain Hippocampus Middle	brain
21	chr11:57742200-57742800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr11:57742200-57742800	Enhancers	Brain Angular Gyrus	brain
23	chr11:57742200-57742800	Enhancers	Pancreas	Pancrea
24	chr11:57742200-57743000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:57742400-57742600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:57742400-57742600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:57742400-57742600	Enhancers	Brain Germinal Matrix	brain
28	chr11:57742400-57742600	Enhancers	Esophagus	oesophagus
29	chr11:57742400-57742800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:57742400-57742800	Enhancers	Lung	lung
31	chr11:57742400-57742800	Enhancers	Psoas Muscle	Psoas
32	chr11:57742400-57742800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:57742400-57743400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:57742600-57742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:57742600-57742800	Enhancers	Fetal Muscle Trunk	muscle
36	chr11:57742600-57745200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:57742600-57745200	Weak transcription	Esophagus	oesophagus
38	chr11:57742600-57751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:57742600-57751000	Weak transcription	Brain Germinal Matrix	brain
40	chr11:57742800-57744000	Weak transcription	HepG2	liver
41	chr11:57742800-57744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:57742800-57745000	Weak transcription	Pancreas	Pancrea
43	chr11:57742800-57745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:57742800-57747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57743400-57745000	Weak transcription	HSMM	muscle
46	chr11:57743600-57745000	Weak transcription	HSMMtube	muscle
47	chr11:57744000-57744200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:57744000-57746400	Enhancers	HepG2	liver
49	chr11:57744200-57744400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:57744200-57745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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