Variant report

Variant	esv3328825
Chromosome Location	chr11:17305801-17308549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17298938..17303193-chr11:17304940..17310347,8	K562	blood:
2	chr11:17305212..17308146-chr11:17308901..17311776,2	K562	blood:
3	chr11:17300662..17302728-chr11:17307021..17310347,3	K562	blood:
4	chr11:17308283..17309860-chr11:17310824..17312984,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs214067	chr11:17305831-17305832	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72863661	chr11:17305854-17305855	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188550400	chr11:17305866-17305867	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368337041	chr11:17305988-17305989	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193154238	chr11:17305998-17305999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535494614	chr11:17306031-17306032	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553590175	chr11:17306042-17306043	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566795214	chr11:17306111-17306112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565677693	chr11:17306192-17306193	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12419530	chr11:17306223-17306224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76340365	chr11:17306253-17306254	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374492613	chr11:17306254-17306255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397689938	chr11:17306258-17306259	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189619142	chr11:17306259-17306260	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200960009	chr11:17306260-17306261	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79388827	chr11:17306274-17306275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576375111	chr11:17306302-17306303	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184796186	chr11:17306314-17306315	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568392559	chr11:17306397-17306398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555495499	chr11:17306400-17306401	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148767471	chr11:17306410-17306411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542304534	chr11:17306448-17306449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74495327	chr11:17306458-17306459	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188529514	chr11:17306525-17306526	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527662851	chr11:17306541-17306542	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545820262	chr11:17306542-17306543	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10566571	chr11:17306562-17306563	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397848476	chr11:17306586-17306587	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564161885	chr11:17306591-17306592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547929688	chr11:17306646-17306647	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531997709	chr11:17306654-17306655	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191505572	chr11:17306696-17306697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183888109	chr11:17306700-17306701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188221987	chr11:17306702-17306703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371900172	chr11:17306708-17306709	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182293611	chr11:17306712-17306713	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369201168	chr11:17306713-17306714	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374952503	chr11:17306741-17306742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187375207	chr11:17306745-17306746	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538329546	chr11:17306749-17306750	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376911827	chr11:17306750-17306751	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202058542	chr11:17306761-17306762	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555419263	chr11:17306785-17306786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573768380	chr11:17306790-17306791	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540901127	chr11:17306791-17306792	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371117347	chr11:17306792-17306793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541588796	chr11:17306800-17306801	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367907356	chr11:17306801-17306802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564098650	chr11:17306802-17306803	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372067899	chr11:17306807-17306808	Weak transcription Strong transcription Enhancers Genic enhancers	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17299000-17307200	Weak transcription	Left Ventricle	heart
2	chr11:17299000-17307400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:17299000-17307600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17299000-17307600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:17299000-17307600	Weak transcription	Lung	lung
6	chr11:17299000-17316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:17299000-17320000	Weak transcription	Esophagus	oesophagus
8	chr11:17299000-17323200	Weak transcription	Ovary	ovary
9	chr11:17299000-17323400	Weak transcription	Aorta	Aorta
10	chr11:17299000-17357200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:17299000-17357600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:17299000-17360600	Weak transcription	Small Intestine	intestine
13	chr11:17299200-17306000	Weak transcription	Placenta	Placenta
14	chr11:17299200-17307400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:17299200-17307400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:17299200-17307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:17299200-17307600	Weak transcription	Psoas Muscle	Psoas
18	chr11:17299200-17307600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:17299200-17307600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:17299200-17310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:17299200-17317800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:17299200-17317800	Weak transcription	Right Ventricle	heart
23	chr11:17299200-17319800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:17299200-17325600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:17299200-17329600	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:17299200-17357000	Weak transcription	Brain Substantia Nigra	brain
27	chr11:17299400-17306200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:17299400-17306400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:17299400-17307200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:17299400-17307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:17299400-17307400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:17299400-17307400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:17299400-17307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:17299400-17307600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:17299400-17307600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:17299400-17307600	Weak transcription	NHLF	lung
37	chr11:17299400-17307800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:17299400-17307800	Weak transcription	Fetal Brain Female	brain
39	chr11:17299400-17308000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:17299400-17308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:17299400-17308600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:17299400-17308600	Weak transcription	Brain Germinal Matrix	brain
43	chr11:17299400-17317000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:17299400-17317400	Weak transcription	HSMM	muscle
45	chr11:17299400-17318000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:17299400-17318000	Weak transcription	NH-A	brain
47	chr11:17299400-17338200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:17299400-17355400	Weak transcription	Brain Angular Gyrus	brain
49	chr11:17299400-17357000	Weak transcription	Fetal Intestine Large	intestine
50	chr11:17299600-17307600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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