Variant report

Variant	nsv975322
Chromosome Location	chr11:9363750-9395226
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:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
2	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
3	chr11:9394586..9396776-chr11:9404549..9406653,2	K562	blood:
4	chr11:9385802..9387665-chr11:9394005..9395643,2	K562	blood:
5	chr11:9383299..9385895-chr11:9587946..9590537,2	MCF-7	breast:
6	chr11:9381818..9384534-chr11:9384807..9386539,2	MCF-7	breast:
7	chr11:9334051..9337836-chr11:9384228..9387561,5	MCF-7	breast:
8	chr11:9385882..9388883-chr11:9391804..9395643,5	K562	blood:
9	chr11:9385552..9386495-chr11:64879234..64879806,2	HCT-116	colon:
10	chr11:9285562..9287153-chr11:9383259..9386336,3	K562	blood:
11	chr11:9385849..9386384-chr12:52453312..52454000,2	Hela-S3	cervix:
12	chr11:9335001..9337527-chr11:9383012..9386033,4	MCF-7	breast:
13	chr11:9332980..9334576-chr11:9365269..9367532,2	K562	blood:
14	chr11:9285276..9286981-chr11:9384842..9387352,3	MCF-7	breast:
15	chr11:9385285..9386284-chr2:85581210..85581745,2	Hela-S3	cervix:
16	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
17	chr11:9384745..9387627-chr11:9387975..9389794,3	K562	blood:
18	chr10:38043261..38044079-chr11:9385505..9386248,2	NB4	blood:
19	chr11:9276841..9278348-chr11:9384168..9386134,2	K562	blood:
20	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
21	chr11:9367453..9371339-chr11:9383916..9387622,3	K562	blood:
22	chr11:9384654..9388171-chr11:9393379..9396078,3	MCF-7	breast:
23	chr11:9376550..9378485-chr11:9405615..9407602,2	K562	blood:
24	chr11:9363321..9365351-chr11:9367412..9370052,2	K562	blood:
25	chr11:9386140..9386989-chr19:49375820..49376486,2	Hela-S3	cervix:
26	chr11:9358815..9361399-chr11:9364116..9367086,4	K562	blood:
27	chr11:9385635..9386490-chr15:65596704..65597261,2	Hela-S3	cervix:
28	chr11:9385882..9388883-chr11:9391804..9395643,5	K562	blood:
29	chr11:9384438..9386089-chr11:9633922..9636673,2	MCF-7	breast:
30	chr11:9385773..9387621-chr11:9390290..9392056,4	K562	blood:
31	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
32	chr11:9331410..9339611-chr11:9380876..9388176,24	K562	blood:
33	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:
34	chr11:9371598..9375010-chr11:9405828..9408611,3	K562	blood:
35	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:
36	chr11:9378276..9380356-chr11:9380460..9382879,2	K562	blood:
37	chr11:9384002..9387558-chr11:9481143..9484126,7	K562	blood:
38	chr11:9368708..9370210-chr11:9480305..9483007,2	K562	blood:
39	chr11:9385694..9386623-chr11:9406252..9407159,2	Hela-S3	cervix:
40	chr1:16840562..16841097-chr11:9385728..9386518,2	HCT-116	colon:
41	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
42	chr11:9385385..9387133-chr11:9397902..9400068,2	MCF-7	breast:
43	chr11:9387928..9389477-chr11:9396814..9399439,3	K562	blood:
44	chr11:9394195..9396569-chr11:9481524..9484200,3	K562	blood:
45	chr11:9342054..9343800-chr11:9362686..9364403,2	MCF-7	breast:
46	chr11:9381559..9387995-chr11:9480641..9484889,12	K562	blood:
47	chr11:9387912..9390461-chr11:9419141..9421304,2	K562	blood:
48	chr11:9385832..9386522-chr13:24153434..24154417,3	HCT-116	colon:
49	chr11:9384097..9385753-chr12:124509844..124511367,2	MCF-7	breast:
50	chr11:9385773..9387621-chr11:9390290..9392056,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000127863	chromatin interactions
ENSG00000042445	chromatin interactions
ENSG00000115459	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000205339	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000184014	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000100219	chromatin interactions
ENSG00000254884	chromatin interactions

Extended variants
information (count: 1487 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1487 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34558594	chr11:9363824-9363825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56338868	chr11:9363844-9363845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539717289	chr11:9363846-9363847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7932136	chr11:9363877-9363878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547472140	chr11:9363984-9363985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564387317	chr11:9364013-9364014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs137888323	chr11:9364018-9364019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535708052	chr11:9364035-9364036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555616563	chr11:9364062-9364063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75509093	chr11:9364064-9364065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182688234	chr11:9364071-9364072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577654775	chr11:9364079-9364080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113099124	chr11:9364086-9364087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375120122	chr11:9364111-9364112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142341825	chr11:9364122-9364123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11042298	chr11:9364132-9364133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542887086	chr11:9364133-9364134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562822825	chr11:9364149-9364150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187420303	chr11:9364172-9364173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531823876	chr11:9364173-9364174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551676431	chr11:9364188-9364189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192221153	chr11:9364205-9364206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571223096	chr11:9364223-9364224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527606005	chr11:9364250-9364251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146401566	chr11:9364251-9364252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148162880	chr11:9364263-9364264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549324187	chr11:9364267-9364268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569157787	chr11:9364268-9364269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538083566	chr11:9364271-9364272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185307527	chr11:9364321-9364322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12800854	chr11:9364326-9364327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577667929	chr11:9364331-9364332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533609301	chr11:9364335-9364336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553366233	chr11:9364383-9364384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573331883	chr11:9364385-9364386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188970140	chr11:9364394-9364395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564015358	chr11:9364396-9364397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562887852	chr11:9364440-9364441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576663485	chr11:9364495-9364496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10840215	chr11:9364520-9364521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs141982414	chr11:9364547-9364548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10770021	chr11:9364556-9364557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571208814	chr11:9364602-9364603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201906132	chr11:9364610-9364611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80035508	chr11:9364611-9364612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193151078	chr11:9364632-9364633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561346019	chr11:9364642-9364643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530149406	chr11:9364681-9364682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541686930	chr11:9364718-9364719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184443012	chr11:9364722-9364723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	22522925	CNVD

Chromatin state (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9351200-9368800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9353200-9368800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:9359200-9365400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:9363400-9363800	Enhancers	A549	lung
5	chr11:9365000-9366000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:9365200-9365600	Bivalent Enhancer	HepG2	liver
7	chr11:9365200-9365800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:9365200-9366000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr11:9365200-9366000	Enhancers	Fetal Thymus	thymus
10	chr11:9365200-9366200	Enhancers	Primary T cells from cord blood	blood
11	chr11:9365200-9366200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:9365200-9366200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:9365200-9366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:9365400-9365800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:9365400-9365800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:9365400-9365800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:9365400-9366000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9365400-9366000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:9365400-9366000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:9365400-9366000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr11:9365400-9366200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:9365400-9366200	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:9365600-9365800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr11:9365600-9365800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:9365600-9365800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:9365600-9365800	Enhancers	Thymus	Thymus
27	chr11:9365600-9365800	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr11:9365600-9366000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:9365600-9366200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:9365800-9366000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:9365800-9366000	Flanking Active TSS	HepG2	liver
32	chr11:9365800-9366200	Enhancers	Fetal Heart	heart
33	chr11:9365800-9368000	Weak transcription	Thymus	Thymus
34	chr11:9365800-9368600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:9365800-9368800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:9365800-9368800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:9366000-9368000	Weak transcription	Fetal Thymus	thymus
38	chr11:9366000-9368400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:9366000-9368400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:9366000-9368400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:9366000-9368800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:9366200-9368000	Weak transcription	Primary T cells from cord blood	blood
43	chr11:9366200-9368000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:9366200-9368400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:9366200-9368400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:9366200-9368400	Weak transcription	Fetal Heart	heart
47	chr11:9366200-9368600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:9366200-9368600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:9366400-9368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:9367200-9368800	Weak transcription	H9 Cell Line	embryonic stem cell

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