Variant report

Variant	nsv553457
Chromosome Location	chr11:9320346-9324496
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
2	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:
3	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:
4	chr11:9316306..9317973-chr11:9319550..9321312,2	K562	blood:
5	chr11:9285320..9287424-chr11:9318280..9320535,2	K562	blood:
6	chr11:9320121..9322582-chr11:9335462..9337660,2	K562	blood:
7	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
8	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184014	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10840202	chr11:9320346-9320347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10743100	chr11:9320387-9320388	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs113214882	chr11:9320392-9320393	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189477178	chr11:9320410-9320411	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181584184	chr11:9320439-9320440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115510094	chr11:9320451-9320452	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376225841	chr11:9320507-9320508	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140684830	chr11:9320510-9320511	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185122102	chr11:9320535-9320536	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528266994	chr11:9320538-9320539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547922164	chr11:9320580-9320581	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542749441	chr11:9320751-9320752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538061323	chr11:9320786-9320787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375628981	chr11:9320787-9320788	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146671742	chr11:9320819-9320820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139970530	chr11:9320864-9320865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111784120	chr11:9320868-9320869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139794462	chr11:9320872-9320873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201083248	chr11:9320892-9320893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72850517	chr11:9320895-9320896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190274400	chr11:9320905-9320906	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371384183	chr11:9320927-9320928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79053185	chr11:9320954-9320955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61264093	chr11:9320991-9320992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116788085	chr11:9320999-9321000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368054634	chr11:9321010-9321011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11548953	chr11:9321025-9321026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540159096	chr11:9321027-9321028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs546977680	chr11:9321082-9321083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567096594	chr11:9321084-9321085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201981937	chr11:9321085-9321086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200380316	chr11:9321099-9321100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201455362	chr11:9321101-9321102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369799343	chr11:9321124-9321125	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77852767	chr11:9321173-9321174	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375761253	chr11:9321176-9321177	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146109503	chr11:9321182-9321183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs569346892	chr11:9321201-9321202	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200352643	chr11:9321204-9321205	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558167828	chr11:9321214-9321215	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146587964	chr11:9321235-9321236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546124559	chr11:9321242-9321243	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs202125569	chr11:9321284-9321285	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs367638036	chr11:9321289-9321290	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs572709513	chr11:9321341-9321342	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541578026	chr11:9321346-9321347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs370787230	chr11:9321369-9321370	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531819513	chr11:9321389-9321390	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530485472	chr11:9321391-9321392	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs10743101	chr11:9321399-9321400	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:207 , 50 per page) page: 1 2 3 4 5

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	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
6	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
8	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
10	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
11	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
12	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
13	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:9296800-9333200	Weak transcription	Ovary	ovary
15	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
18	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:9301600-9321200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:9301600-9321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
22	chr11:9302600-9320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:9302600-9321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
26	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
27	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
28	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:9302800-9320600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:9302800-9321600	Weak transcription	Brain Anterior Caudate	brain
33	chr11:9302800-9334600	Weak transcription	NH-A	brain
34	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:9303400-9320600	Weak transcription	Osteobl	bone
37	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:9305800-9332800	Weak transcription	NHDF-Ad	bronchial
39	chr11:9306000-9332600	Weak transcription	Brain Germinal Matrix	brain
40	chr11:9306400-9321600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:9306400-9322200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:9307600-9322000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:9308000-9325000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:9308200-9323000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:9308200-9329200	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:9308200-9332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
48	chr11:9308400-9324000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:9310000-9328400	Weak transcription	Fetal Heart	heart

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