Variant report

Variant	nsv897199
Chromosome Location	chr11:33118888-33170853
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:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:33126663..33129359-chr11:33132478..33134732,2	K562	blood:
2	chr11:33131476..33135821-chr11:33137366..33139055,4	K562	blood:
3	chr11:33139735..33146600-chr11:33146867..33150605,7	K562	blood:
4	chr11:33157170..33158945-chr11:33172836..33175107,2	K562	blood:
5	chr11:33124274..33125831-chr11:33126964..33128928,2	K562	blood:
6	chr11:33161983..33167383-chr11:33177368..33180644,5	K562	blood:
7	chr11:33170533..33172129-chr11:33173815..33175713,2	MCF-7	breast:
8	chr11:33142839..33144510-chr11:33145083..33148009,2	MCF-7	breast:
9	chr11:33154713..33156915-chr11:33157694..33159800,2	MCF-7	breast:
10	chr11:33137241..33139373-chr11:33181195..33183827,2	K562	blood:
11	chr11:33164729..33167048-chr11:33181551..33183084,3	K562	blood:
12	chr11:33164189..33166359-chr11:33174794..33176980,2	K562	blood:
13	chr11:33120707..33123516-chr11:33278200..33280006,2	K562	blood:
14	chr11:33154721..33157255-chr11:33279375..33281458,2	K562	blood:
15	chr11:33146192..33148602-chr11:33177101..33179018,2	K562	blood:
16	chr11:33124274..33125831-chr11:33126964..33128928,2	K562	blood:
17	chr11:33164859..33166687-chr11:33174794..33177697,2	K562	blood:
18	chr11:33138621..33140759-chr11:33141891..33144623,2	K562	blood:
19	chr11:33161443..33163020-chr11:33181758..33183583,2	K562	blood:
20	chr11:33139857..33145009-chr11:33151477..33155774,5	K562	blood:
21	chr11:33124155..33125831-chr11:33126964..33129155,2	K562	blood:
22	chr11:33169593..33172505-chr11:33177595..33179412,2	K562	blood:
23	chr11:33146625..33149206-chr6:52859190..52861528,2	K562	blood:
24	chr11:33164729..33167048-chr11:33181555..33183084,2	K562	blood:
25	chr11:33154713..33156915-chr11:33157694..33159800,2	MCF-7	breast:
26	chr11:33142839..33144510-chr11:33145083..33148009,2	MCF-7	breast:
27	chr11:33151982..33154507-chr11:33378792..33381624,2	K562	blood:
28	chr11:33133887..33136865-chr11:33162527..33165170,2	K562	blood:
29	chr11:33145023..33150108-chr11:33154363..33159467,8	K562	blood:
30	chr11:33133887..33136865-chr11:33162527..33165170,2	K562	blood:
31	chr11:33060175..33062354-chr11:33124123..33126610,2	MCF-7	breast:
32	chr11:33133284..33135813-chr11:33138983..33141504,2	MCF-7	breast:
33	chr11:33149721..33151534-chr11:33161155..33165147,4	K562	blood:
34	chr11:33144694..33146600-chr11:33148884..33151282,2	K562	blood:
35	chr11:33165074..33167895-chr11:33168095..33170897,3	K562	blood:
36	chr11:33133284..33135813-chr11:33138983..33141504,2	MCF-7	breast:
37	chr11:33152168..33154293-chr11:33162964..33164781,2	K562	blood:
38	chr11:33164604..33166371-chr11:33178493..33180493,2	MCF-7	breast:
39	chr11:33144694..33146600-chr11:33148884..33151282,2	K562	blood:
40	chr11:33164421..33166971-chr11:33277905..33280784,2	K562	blood:
41	chr11:33134443..33136526-chr11:33141059..33143030,2	K562	blood:
42	chr11:33118081..33120716-chr11:33128955..33131930,2	MCF-7	breast:
43	chr11:33160988..33163262-chr11:33164443..33166161,2	MCF-7	breast:
44	chr11:33124155..33125831-chr11:33126964..33129155,2	K562	blood:
45	chr11:33115745..33117577-chr11:33119372..33121372,2	K562	blood:
46	chr11:33134443..33136526-chr11:33141059..33143030,2	K562	blood:
47	chr11:33152168..33154293-chr11:33162964..33164781,2	K562	blood:
48	chr11:33112203..33114352-chr11:33151243..33153695,2	K562	blood:
49	chr11:33118081..33120716-chr11:33128955..33131930,2	MCF-7	breast:
50	chr11:33165074..33167895-chr11:33168095..33170897,3	K562	blood:

No data

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

Extended variants
information (count: 1588 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10836021	chr11:33118888-33118889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191455249	chr11:33118908-33118909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113906826	chr11:33118920-33118921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559195635	chr11:33118922-33118923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185500385	chr11:33118939-33118940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577000196	chr11:33118962-33118963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546009359	chr11:33118978-33118979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143988222	chr11:33118979-33118980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573177486	chr11:33118999-33119000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542105304	chr11:33119011-33119012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562127734	chr11:33119035-33119036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569138130	chr11:33119059-33119060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188760901	chr11:33119076-33119077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148252261	chr11:33119104-33119105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544728010	chr11:33119126-33119127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564415413	chr11:33119157-33119158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10767989	chr11:33119205-33119206	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536021714	chr11:33119221-33119222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543882519	chr11:33119262-33119263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10742292	chr11:33119277-33119278	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs566686969	chr11:33119300-33119301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540230169	chr11:33119303-33119304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529561109	chr11:33119311-33119312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193292761	chr11:33119340-33119341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141314398	chr11:33119363-33119364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564689534	chr11:33119472-33119473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536624618	chr11:33119476-33119477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117329199	chr11:33119590-33119591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570556791	chr11:33119598-33119599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539489930	chr11:33119669-33119670	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532458429	chr11:33119673-33119674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573039572	chr11:33119766-33119767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535761222	chr11:33119787-33119788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555351493	chr11:33119810-33119811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575636451	chr11:33119822-33119823	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544277409	chr11:33119920-33119921	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564458843	chr11:33119938-33119939	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577727457	chr11:33120014-33120015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146267790	chr11:33120038-33120039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560338822	chr11:33120058-33120059	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185112396	chr11:33120064-33120065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189050383	chr11:33120099-33120100	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563028661	chr11:33120108-33120109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530571469	chr11:33120143-33120144	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35931906	chr11:33120260-33120261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200350025	chr11:33120265-33120266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181095002	chr11:33120280-33120281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184046143	chr11:33120310-33120311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546689227	chr11:33120338-33120339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566699700	chr11:33120424-33120425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

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	chr11:33094400-33121400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:33094800-33119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:33095000-33126800	Weak transcription	Right Ventricle	heart
12	chr11:33095200-33119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:33098000-33121400	Weak transcription	Small Intestine	intestine
14	chr11:33098000-33122600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:33098800-33127400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:33099200-33129400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:33100600-33121400	Weak transcription	Aorta	Aorta
18	chr11:33100800-33122000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:33100800-33123800	Weak transcription	Fetal Brain Male	brain
20	chr11:33101600-33122400	Weak transcription	Esophagus	oesophagus
21	chr11:33103600-33128600	Weak transcription	Gastric	stomach
22	chr11:33104200-33128400	Weak transcription	Pancreas	Pancrea
23	chr11:33104800-33122600	Weak transcription	Spleen	Spleen
24	chr11:33104800-33133600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:33106800-33119200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:33106800-33131600	Weak transcription	Psoas Muscle	Psoas
27	chr11:33107000-33119400	Weak transcription	Thymus	Thymus
28	chr11:33107200-33121400	Weak transcription	Lung	lung
29	chr11:33107200-33124600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:33107600-33125600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:33107600-33131200	Weak transcription	Fetal Heart	heart
32	chr11:33107800-33119600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:33107800-33122000	Weak transcription	Brain Substantia Nigra	brain
34	chr11:33107800-33125400	Weak transcription	Colonic Mucosa	Colon
35	chr11:33107800-33131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:33108000-33119400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:33108200-33121400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:33108600-33122000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr11:33108800-33119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:33108800-33119400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:33108800-33119600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:33109000-33119400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr11:33109000-33119400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:33109000-33119600	Weak transcription	NHLF	lung
45	chr11:33109000-33122200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:33109400-33119600	Weak transcription	HSMMtube	muscle
47	chr11:33109600-33119400	Weak transcription	NHEK	skin
48	chr11:33110400-33129800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:33110600-33121400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:33110800-33129400	Strong transcription	Monocytes-CD14+_RO01746	blood

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