Variant report

Variant	nsv1038987
Chromosome Location	chr11:16916438-16927022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:
2	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
3	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:
4	chr11:16915696..16917926-chr11:16944462..16946191,2	MCF-7	breast:
5	chr11:16883507..16885093-chr11:16913908..16916539,2	MCF-7	breast:
6	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
7	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
8	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
9	chr11:16924785..16927963-chr11:16940444..16943241,3	MCF-7	breast:
10	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
11	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:
12	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
13	chr11:16918607..16920232-chr8:87576439..87578551,2	MCF-7	breast:

No data

Extended variants
information (count: 397 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111989268	chr11:16916477-16916478	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7128212	chr11:16916520-16916521	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538871796	chr11:16916530-16916531	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557208387	chr11:16916532-16916533	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114302385	chr11:16916558-16916559	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542913871	chr11:16916618-16916619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560986504	chr11:16916620-16916621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149389343	chr11:16916622-16916623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71484737	chr11:16916638-16916639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34977744	chr11:16916642-16916643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541043953	chr11:16916655-16916656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559453314	chr11:16916665-16916666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193295179	chr11:16916676-16916677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369428941	chr11:16916725-16916726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370055889	chr11:16916832-16916833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs144652954	chr11:16916848-16916849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs11601588	chr11:16916849-16916850	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549689549	chr11:16916889-16916890	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs35961272	chr11:16916962-16916963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567859323	chr11:16917065-16917066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs116751821	chr11:16917088-16917089	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs184558772	chr11:16917093-16917094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs148509971	chr11:16917103-16917104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs141980221	chr11:16917149-16917150	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs187396225	chr11:16917170-16917171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs377625555	chr11:16917186-16917187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs191985640	chr11:16917216-16917217	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs11024074	chr11:16917219-16917220	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
29	rs376335932	chr11:16917230-16917231	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs554875326	chr11:16917252-16917253	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs79699101	chr11:16917256-16917257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs371246390	chr11:16917274-16917275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374315194	chr11:16917309-16917310	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs184050976	chr11:16917374-16917375	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs12418111	chr11:16917430-16917431	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188683913	chr11:16917440-16917441	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs545107648	chr11:16917480-16917481	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs570083385	chr11:16917481-16917482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs563432497	chr11:16917495-16917496	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs546056721	chr11:16917558-16917559	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs531181305	chr11:16917559-16917560	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs140194615	chr11:16917611-16917612	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs537630480	chr11:16917669-16917670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs561661526	chr11:16917703-16917704	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs181203395	chr11:16917710-16917711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs547285796	chr11:16917721-16917722	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs571268503	chr11:16917836-16917837	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs114895239	chr11:16917851-16917852	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs550737873	chr11:16917856-16917857	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs192103248	chr11:16917857-16917858	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16910000-16917800	Weak transcription	Lung	lung
2	chr11:16912200-16923600	Weak transcription	A549	lung
3	chr11:16912400-16919400	Weak transcription	Liver	Liver
4	chr11:16913000-16918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:16913400-16916800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:16913800-16921800	Enhancers	Fetal Heart	heart
7	chr11:16914000-16917000	Weak transcription	HSMM	muscle
8	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
9	chr11:16914400-16919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:16914600-16921200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:16915000-16917000	Enhancers	Esophagus	oesophagus
12	chr11:16915400-16918200	Weak transcription	Fetal Intestine Large	intestine
13	chr11:16915400-16918400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:16915600-16916600	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:16915600-16916800	Weak transcription	NHDF-Ad	bronchial
16	chr11:16915600-16916800	Weak transcription	Osteobl	bone
17	chr11:16915800-16916800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:16915800-16916800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:16915800-16917800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:16915800-16918000	Weak transcription	Right Ventricle	heart
21	chr11:16915800-16919000	Weak transcription	Right Atrium	heart
22	chr11:16915800-16921400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:16915800-16921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:16915800-16922800	Weak transcription	HMEC	breast
25	chr11:16916000-16917800	Weak transcription	Stomach Mucosa	stomach
26	chr11:16916000-16918400	Weak transcription	Pancreas	Pancrea
27	chr11:16916000-16918800	Weak transcription	Adipose Nuclei	Adipose
28	chr11:16916000-16919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:16916000-16923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:16916000-16924400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
32	chr11:16916200-16917200	Weak transcription	Gastric	stomach
33	chr11:16916200-16917400	Weak transcription	Left Ventricle	heart
34	chr11:16916400-16917200	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:16916400-16917600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:16916600-16918200	Weak transcription	Fetal Intestine Small	intestine
37	chr11:16916800-16917000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:16916800-16917000	Enhancers	Fetal Kidney	kidney
39	chr11:16916800-16917200	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:16916800-16917600	Enhancers	Brain Anterior Caudate	brain
41	chr11:16916800-16917600	Enhancers	NHDF-Ad	bronchial
42	chr11:16916800-16917600	Enhancers	Osteobl	bone
43	chr11:16916800-16917800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr11:16916800-16918000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:16916800-16919000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:16916800-16920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:16917000-16917200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr11:16917000-16917200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
49	chr11:16917000-16917200	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr11:16917000-16917400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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