Variant report

Variant	nsv553591
Chromosome Location	chr11:18090519-18100022
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
2	chr11:18037112..18038638-chr11:18097036..18099168,2	K562	blood:
3	chr11:18093261..18096256-chr11:18101995..18104742,3	K562	blood:
4	chr11:18029098..18031772-chr11:18092202..18096288,3	K562	blood:
5	chr11:18079997..18081665-chr11:18090672..18092911,2	K562	blood:
6	chr11:18097702..18099433-chr11:18102969..18105634,2	K562	blood:
7	chr11:18094663..18097873-chr11:18099803..18103495,3	K562	blood:
8	chr11:18087033..18088571-chr11:18092564..18095124,2	K562	blood:
9	chr11:18097348..18100166-chr11:18112534..18115316,2	MCF-7	breast:
10	chr11:18096008..18098167-chr11:18099695..18101837,4	K562	blood:
11	chr11:18083345..18085878-chr11:18088816..18091112,3	K562	blood:
12	chr11:18095890..18098789-chr11:18109246..18111081,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166788	chromatin interactions

Extended variants
information (count: 350 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7948660	chr11:18090519-18090520	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565634728	chr11:18090549-18090550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150142453	chr11:18090604-18090605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559915845	chr11:18090657-18090658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557853266	chr11:18090659-18090660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578135173	chr11:18090664-18090665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544979661	chr11:18090699-18090700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537178960	chr11:18090742-18090743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186060981	chr11:18090772-18090773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191811870	chr11:18090797-18090798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542114781	chr11:18090812-18090813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371197728	chr11:18090821-18090822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554053092	chr11:18090857-18090858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572074195	chr11:18090904-18090905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545813394	chr11:18090931-18090932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181503467	chr11:18090940-18090941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72875726	chr11:18090942-18090943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs59284430	chr11:18091009-18091010	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561727767	chr11:18091031-18091032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570708362	chr11:18091067-18091068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529100756	chr11:18091135-18091136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547677353	chr11:18091171-18091172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3946774	chr11:18091211-18091212	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532931016	chr11:18091216-18091217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551071332	chr11:18091226-18091227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186568460	chr11:18091235-18091236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536739917	chr11:18091256-18091257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538118599	chr11:18091303-18091304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563872136	chr11:18091311-18091312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549108836	chr11:18091323-18091324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12289911	chr11:18091377-18091378	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191073438	chr11:18091378-18091379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182914793	chr11:18091389-18091390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145736187	chr11:18091398-18091399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539775114	chr11:18091406-18091407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148961249	chr11:18091442-18091443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576427644	chr11:18091466-18091467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543502771	chr11:18091469-18091470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562223108	chr11:18091499-18091500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372451592	chr11:18091501-18091502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs951625	chr11:18091527-18091528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368887896	chr11:18091533-18091534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143638978	chr11:18091627-18091628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549374226	chr11:18091661-18091662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs951624	chr11:18091665-18091666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551694562	chr11:18091680-18091681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57504418	chr11:18091725-18091726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs5790011	chr11:18091743-18091744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116752424	chr11:18091757-18091758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186731062	chr11:18091771-18091772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

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	chr11:18085200-18097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18085200-18104200	Weak transcription	Fetal Intestine Small	intestine
8	chr11:18085200-18113000	Weak transcription	Fetal Brain Male	brain
9	chr11:18085400-18093800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:18085600-18101000	Weak transcription	Thymus	Thymus
11	chr11:18085600-18102000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:18085800-18095600	Weak transcription	Primary B cells from cord blood	blood
13	chr11:18085800-18095800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:18085800-18100600	Weak transcription	Fetal Kidney	kidney
15	chr11:18085800-18109600	Weak transcription	Spleen	Spleen
16	chr11:18086000-18095800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:18086000-18100000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:18086000-18101000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:18086000-18105600	Weak transcription	Right Ventricle	heart
20	chr11:18086200-18100600	Weak transcription	Brain Anterior Caudate	brain
21	chr11:18086400-18107600	Weak transcription	Lung	lung
22	chr11:18086600-18100600	Weak transcription	Liver	Liver
23	chr11:18087400-18099800	Weak transcription	Dnd41	blood
24	chr11:18087400-18100600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:18087400-18109800	Weak transcription	Gastric	stomach
26	chr11:18087400-18115800	Weak transcription	Pancreas	Pancrea
27	chr11:18087600-18093800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:18087600-18099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:18087600-18100400	Weak transcription	HMEC	breast
30	chr11:18087600-18102400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:18087600-18105200	Weak transcription	NHEK	skin
32	chr11:18087800-18100400	Weak transcription	Fetal Brain Female	brain
33	chr11:18087800-18100800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:18088200-18100800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:18088600-18100400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:18088800-18101200	Weak transcription	Ovary	ovary
37	chr11:18089200-18092200	Weak transcription	Fetal Lung	lung
38	chr11:18089200-18099800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:18089200-18102400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:18089600-18100800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:18089600-18101000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:18089600-18102600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:18089800-18095600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:18089800-18099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:18089800-18100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:18090000-18100600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:18090200-18091400	Strong transcription	Primary T cells from cord blood	blood
48	chr11:18090200-18107600	Weak transcription	Aorta	Aorta
49	chr11:18090400-18100600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:18090600-18100800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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