Variant report

Variant	nsv897197
Chromosome Location	chr11:33116054-33150253
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:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33146192..33148602-chr11:33177101..33179018,2	K562	blood:
2	chr11:33144694..33146600-chr11:33148884..33151282,2	K562	blood:
3	chr11:33124155..33125831-chr11:33126964..33129155,2	K562	blood:
4	chr11:33134443..33136526-chr11:33141059..33143030,2	K562	blood:
5	chr11:33139735..33146600-chr11:33146867..33150605,7	K562	blood:
6	chr11:33124274..33125831-chr11:33126964..33128928,2	K562	blood:
7	chr11:33126663..33129359-chr11:33132478..33134732,2	K562	blood:
8	chr11:33118081..33120716-chr11:33128955..33131930,2	MCF-7	breast:
9	chr11:33133284..33135813-chr11:33138983..33141504,2	MCF-7	breast:
10	chr11:33133887..33136865-chr11:33162527..33165170,2	K562	blood:
11	chr11:33133284..33135813-chr11:33138983..33141504,2	MCF-7	breast:
12	chr11:33144694..33146600-chr11:33148884..33151282,2	K562	blood:
13	chr11:33139735..33146600-chr11:33146867..33150605,7	K562	blood:
14	chr11:33145023..33150108-chr11:33154363..33159467,8	K562	blood:
15	chr11:33137241..33139373-chr11:33181195..33183827,2	K562	blood:
16	chr11:33149721..33151534-chr11:33161155..33165147,4	K562	blood:
17	chr11:33142839..33144510-chr11:33145083..33148009,2	MCF-7	breast:
18	chr11:33146625..33149206-chr6:52859190..52861528,2	K562	blood:
19	chr11:33131476..33135821-chr11:33137366..33139055,4	K562	blood:
20	chr11:33126663..33129359-chr11:33132478..33134732,2	K562	blood:
21	chr11:33142839..33144510-chr11:33145083..33148009,2	MCF-7	breast:
22	chr11:33118081..33120716-chr11:33128955..33131930,2	MCF-7	breast:
23	chr11:33120707..33123516-chr11:33278200..33280006,2	K562	blood:
24	chr11:33134443..33136526-chr11:33141059..33143030,2	K562	blood:
25	chr11:33124274..33125831-chr11:33126964..33128928,2	K562	blood:
26	chr11:33124155..33125831-chr11:33126964..33129155,2	K562	blood:
27	chr11:33138621..33140759-chr11:33141891..33144623,2	K562	blood:
28	chr11:33099184..33100700-chr11:33113434..33116285,2	MCF-7	breast:
29	chr11:33115745..33117577-chr11:33119372..33121372,2	K562	blood:
30	chr11:33131476..33135821-chr11:33137366..33139055,4	K562	blood:
31	chr11:33147528..33150547-chr11:33179225..33184125,4	MCF-7	breast:
32	chr11:33138621..33140759-chr11:33141891..33144623,2	K562	blood:
33	chr11:33139857..33145009-chr11:33151477..33155774,5	K562	blood:
34	chr11:33115745..33117577-chr11:33119372..33121372,2	K562	blood:
35	chr11:33060175..33062354-chr11:33124123..33126610,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC73-5	chr11:33116283-33116906	expReg_chr11_2930_-

No data

Variant related genes	Relation type
ENSG00000176148	chromatin interactions
ENSG00000110422	chromatin interactions
ENSG00000170899	chromatin interactions
ENSG00000202198	chromatin interactions
ENSG00000176102	chromatin interactions
ENSG00000247151	chromatin interactions

Extended variants
information (count: 1032 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7125950	chr11:33116054-33116055	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200104084	chr11:33116121-33116122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76551696	chr11:33116252-33116253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563590026	chr11:33116385-33116386	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142605990	chr11:33116388-33116389	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs79835783	chr11:33116394-33116395	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532451178	chr11:33116475-33116476	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs550649591	chr11:33116506-33116507	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563694099	chr11:33116547-33116548	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530535931	chr11:33116589-33116590	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs552609788	chr11:33116601-33116602	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548640711	chr11:33116643-33116644	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs560578708	chr11:33116644-33116645	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs372508834	chr11:33116655-33116656	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535188023	chr11:33116737-33116738	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs181312538	chr11:33116742-33116743	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs113811218	chr11:33116746-33116747	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs528062439	chr11:33116767-33116768	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs184998677	chr11:33116891-33116892	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568697251	chr11:33116955-33116956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10767988	chr11:33116960-33116961	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11604958	chr11:33116990-33116991	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs577462323	chr11:33116998-33116999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12224589	chr11:33117057-33117058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539696947	chr11:33117064-33117065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558138095	chr11:33117076-33117077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373834405	chr11:33117128-33117129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571681519	chr11:33117133-33117134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540756420	chr11:33117143-33117144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189802742	chr11:33117228-33117229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546838756	chr11:33117349-33117350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7938022	chr11:33117360-33117361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs71034651	chr11:33117365-33117366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375098133	chr11:33117368-33117369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535923183	chr11:33117369-33117370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56882709	chr11:33117372-33117373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201662804	chr11:33117373-33117374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141098304	chr11:33117377-33117378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550767801	chr11:33117381-33117382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552467662	chr11:33117388-33117389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182253027	chr11:33117390-33117391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61377553	chr11:33117399-33117400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61699170	chr11:33117402-33117403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528470950	chr11:33117409-33117410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537570331	chr11:33117452-33117453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201264757	chr11:33117510-33117511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368738210	chr11:33117511-33117512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60165214	chr11:33117525-33117526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574121783	chr11:33117575-33117576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115024325	chr11:33117577-33117578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:707 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33075000-33130200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:33076000-33129600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:33085600-33122000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:33086200-33122000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:33086400-33127400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:33086600-33119400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:33087200-33129400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:33087800-33138000	Weak transcription	Stomach Mucosa	stomach
9	chr11:33094400-33117600	Weak transcription	Fetal Kidney	kidney
10	chr11:33094400-33121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:33094800-33119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:33095000-33126800	Weak transcription	Right Ventricle	heart
13	chr11:33095200-33119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:33095400-33117400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:33097800-33117600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:33097800-33117800	Weak transcription	Hela-S3	cervix
17	chr11:33098000-33121400	Weak transcription	Small Intestine	intestine
18	chr11:33098000-33122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:33098800-33127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:33099200-33129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:33099400-33118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:33100600-33121400	Weak transcription	Aorta	Aorta
23	chr11:33100800-33122000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:33100800-33123800	Weak transcription	Fetal Brain Male	brain
25	chr11:33101600-33122400	Weak transcription	Esophagus	oesophagus
26	chr11:33103600-33128600	Weak transcription	Gastric	stomach
27	chr11:33104200-33128400	Weak transcription	Pancreas	Pancrea
28	chr11:33104800-33122600	Weak transcription	Spleen	Spleen
29	chr11:33104800-33133600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:33105000-33118800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:33106800-33119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:33106800-33131600	Weak transcription	Psoas Muscle	Psoas
33	chr11:33107000-33119400	Weak transcription	Thymus	Thymus
34	chr11:33107200-33121400	Weak transcription	Lung	lung
35	chr11:33107200-33124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:33107600-33117400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:33107600-33118200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:33107600-33125600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:33107600-33131200	Weak transcription	Fetal Heart	heart
40	chr11:33107800-33116600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:33107800-33117600	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:33107800-33117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:33107800-33119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:33107800-33122000	Weak transcription	Brain Substantia Nigra	brain
45	chr11:33107800-33125400	Weak transcription	Colonic Mucosa	Colon
46	chr11:33107800-33131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:33108000-33117800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:33108000-33119400	Weak transcription	Brain Angular Gyrus	brain
49	chr11:33108200-33116800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:33108200-33121400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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