Variant report

Variant	nsv553597
Chromosome Location	chr11:18097481-18100022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
2	chr11:18095890..18098789-chr11:18109246..18111081,2	K562	blood:
3	chr11:18037112..18038638-chr11:18097036..18099168,2	K562	blood:
4	chr11:18097702..18099433-chr11:18102969..18105634,2	K562	blood:
5	chr11:18094663..18097873-chr11:18099803..18103495,3	K562	blood:
6	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
7	chr11:18097348..18100166-chr11:18112534..18115316,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166788	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11606714	chr11:18097481-18097482	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182111543	chr11:18097494-18097495	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs372652725	chr11:18097536-18097537	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563274307	chr11:18097554-18097555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535780971	chr11:18097582-18097583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553745225	chr11:18097612-18097613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530621708	chr11:18097630-18097631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572405981	chr11:18097643-18097644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545935676	chr11:18097653-18097654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548955521	chr11:18097679-18097680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148147514	chr11:18097721-18097722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576126222	chr11:18097749-18097750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543617259	chr11:18097766-18097767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561896118	chr11:18097780-18097781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529192323	chr11:18097813-18097814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs141202210	chr11:18097843-18097844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547698228	chr11:18097869-18097870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559042924	chr11:18097904-18097905	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187898202	chr11:18097913-18097914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs147388351	chr11:18097915-18097916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs191859858	chr11:18097931-18097932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183729965	chr11:18097936-18097937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549947864	chr11:18097941-18097942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568357286	chr11:18097947-18097948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535703996	chr11:18097948-18097949	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11024466	chr11:18097997-18097998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386751131	chr11:18098011-18098012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7951771	chr11:18098016-18098017	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs557784272	chr11:18098020-18098021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199559908	chr11:18098036-18098037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371107147	chr11:18098037-18098038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557895283	chr11:18098067-18098068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576464908	chr11:18098088-18098089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188297340	chr11:18098090-18098091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193009858	chr11:18098114-18098115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573884337	chr11:18098145-18098146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550940439	chr11:18098159-18098160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113902001	chr11:18098164-18098165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562250519	chr11:18098178-18098179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527768257	chr11:18098180-18098181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28865345	chr11:18098182-18098183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
42	rs559616260	chr11:18098183-18098184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183966619	chr11:18098280-18098281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186870152	chr11:18098292-18098293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576139066	chr11:18098297-18098298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563173922	chr11:18098305-18098306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs530514814	chr11:18098362-18098363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73430033	chr11:18098433-18098434	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs549060271	chr11:18098454-18098455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191294036	chr11:18098482-18098483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18070800-18102600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:18081400-18100400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:18083200-18109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:18083400-18102400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:18084800-18108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
8	chr11:18085600-18101000	Weak transcription	Thymus	Thymus
9	chr11:18085600-18102000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:18085800-18100600	Weak transcription	Fetal Kidney	kidney
11	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
12	chr11:18086000-18100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:18086000-18101000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
15	chr11:18086200-18100600	Weak transcription	Brain Anterior Caudate	brain
16	chr11:18086400-18107600	Weak transcription	Lung	lung
17	chr11:18086600-18100600	Weak transcription	Liver	Liver
18	chr11:18087400-18099800	Weak transcription	Dnd41	blood
19	chr11:18087400-18100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:18087400-18109800	Weak transcription	Gastric	stomach
21	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
22	chr11:18087600-18099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:18087600-18100400	Weak transcription	HMEC	breast
24	chr11:18087600-18102400	Weak transcription	Brain Germinal Matrix	brain
25	chr11:18087600-18105200	Weak transcription	NHEK	skin
26	chr11:18087800-18100400	Weak transcription	Fetal Brain Female	brain
27	chr11:18087800-18100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:18088200-18100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:18088600-18100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:18088800-18101200	Weak transcription	Ovary	ovary
31	chr11:18089200-18099800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:18089200-18102400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:18089600-18100800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:18089600-18101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:18089600-18102600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:18089800-18099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:18089800-18100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:18090000-18100600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:18090200-18107600	Weak transcription	Aorta	Aorta
40	chr11:18090400-18100600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:18090600-18100800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:18090800-18100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:18090800-18101600	Weak transcription	GM12878-XiMat	blood
44	chr11:18091000-18100600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:18091400-18100600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:18091600-18101000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:18091600-18101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:18092200-18107200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:18092600-18102000	Weak transcription	Fetal Lung	lung
50	chr11:18092600-18102800	Weak transcription	NHLF	lung

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