Variant report

Variant	nsv553458
Chromosome Location	chr11:9321399-9324394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:
2	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
3	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
4	chr11:9320121..9322582-chr11:9335462..9337660,2	K562	blood:
5	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:
6	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:

Variant related genes	Relation type
ENSG00000166471	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10743101	chr11:9321399-9321400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11042272	chr11:9321415-9321416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532783745	chr11:9321438-9321439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs547283919	chr11:9321448-9321449	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567125678	chr11:9321455-9321456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529535712	chr11:9321465-9321466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549565954	chr11:9321492-9321493	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569459694	chr11:9321496-9321497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538366380	chr11:9321538-9321539	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs527392389	chr11:9321548-9321549	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181772564	chr11:9321557-9321558	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571654592	chr11:9321582-9321583	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs71476824	chr11:9321599-9321600	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533900318	chr11:9321607-9321608	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368678078	chr11:9321634-9321635	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553235154	chr11:9321665-9321666	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572770939	chr11:9321679-9321680	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532700740	chr11:9321682-9321683	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114640058	chr11:9321704-9321705	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145710995	chr11:9321713-9321714	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs115608869	chr11:9321719-9321720	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544336571	chr11:9321724-9321725	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112072958	chr11:9321784-9321785	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs186502745	chr11:9321789-9321790	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148919085	chr11:9321799-9321800	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76400338	chr11:9321803-9321804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567276282	chr11:9321876-9321877	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560782732	chr11:9321892-9321893	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112483159	chr11:9321941-9321942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536232359	chr11:9321961-9321962	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189709444	chr11:9321963-9321964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569520209	chr11:9321968-9321969	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371420646	chr11:9321989-9321990	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569958131	chr11:9322007-9322008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147021545	chr11:9322027-9322028	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115634912	chr11:9322093-9322094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs373902498	chr11:9322109-9322110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11042273	chr11:9322132-9322133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs60804460	chr11:9322142-9322143	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs180810256	chr11:9322165-9322166	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572105223	chr11:9322191-9322192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs567303989	chr11:9322205-9322206	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186203237	chr11:9322206-9322207	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs367576461	chr11:9322224-9322225	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs191170279	chr11:9322230-9322231	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368848940	chr11:9322253-9322254	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs537597559	chr11:9322281-9322282	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557856261	chr11:9322286-9322287	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577630391	chr11:9322288-9322289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs4910039	chr11:9322297-9322298	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9332600	Weak transcription	HMEC	breast
2	chr11:9287400-9333000	Weak transcription	Gastric	stomach
3	chr11:9287800-9328400	Weak transcription	A549	lung
4	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
6	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
8	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
9	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
10	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:9296800-9333200	Weak transcription	Ovary	ovary
13	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
18	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
21	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
22	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
23	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:9302800-9321600	Weak transcription	Brain Anterior Caudate	brain
27	chr11:9302800-9334600	Weak transcription	NH-A	brain
28	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:9305800-9332800	Weak transcription	NHDF-Ad	bronchial
32	chr11:9306000-9332600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:9306400-9321600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:9306400-9322200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:9307600-9322000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:9308000-9325000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:9308200-9323000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:9308200-9329200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:9308200-9332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:9308400-9324000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
43	chr11:9310000-9328400	Weak transcription	Fetal Heart	heart
44	chr11:9311200-9321400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:9311400-9325000	Weak transcription	Colonic Mucosa	Colon
46	chr11:9311600-9321600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:9311600-9321600	Strong transcription	Fetal Intestine Small	intestine
48	chr11:9311600-9321600	Strong transcription	Fetal Stomach	stomach
49	chr11:9311600-9324000	Weak transcription	GM12878-XiMat	blood
50	chr11:9312000-9331800	Weak transcription	HepG2	liver

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