Variant report

Variant	nsv897219
Chromosome Location	chr11:35242907-35257316
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:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35237824..35241219-chr11:35241266..35244323,3	K562	blood:
2	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
3	chr11:35252011..35252895-chr9:127020158..127020913,2	Hela-S3	cervix:
4	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
5	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
6	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
7	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
8	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
9	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
10	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
11	chr11:35121498..35123460-chr11:35254836..35257289,2	K562	blood:
12	chr11:35239197..35241222-chr11:35241984..35244543,2	MCF-7	breast:
13	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:
14	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A2-4	chr11:35254902-35256403	NONHSAT018787
2	lnc-SLC1A2-4	chr11:35254171-35254874	NONHSAT018787
3	lnc-PDHX-5	chr11:35243201-35243263	NONHSAT018782

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CD44	hsa-miR-520c-3p	chr11:35253881-35253903
2	CD44	hsa-miR-373-3p	chr11:35253896-35253903
3	CD44	hsa-miR-373-3p	chr11:35253880-35253903
4	CD44	hsa-miR-520c-3p	chr11:35253896-35253903
5	CD44	hsa-miR-216a-5p	chr11:35253535-35253556
6	CD44	hsa-miR-328-3p	chr11:35251070-35251091
7	CD44	hsa-miR-708-5p	chr11:35252486-35252508

Variant related genes	Relation type
ENSG00000026508	chromatin interactions
ENSG00000119408	chromatin interactions

Extended variants
information (count: 575 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10734436	chr11:35242907-35242908	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541160853	chr11:35242983-35242984	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561373214	chr11:35243017-35243018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141874147	chr11:35243021-35243022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150672444	chr11:35243042-35243043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187646837	chr11:35243060-35243061	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531414525	chr11:35243083-35243084	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139832018	chr11:35243095-35243096	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192608200	chr11:35243105-35243106	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527423018	chr11:35243121-35243122	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547161917	chr11:35243135-35243136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115151051	chr11:35243166-35243167	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368279051	chr11:35243174-35243175	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372290263	chr11:35243177-35243178	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375320053	chr11:35243183-35243184	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201806997	chr11:35243193-35243194	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61755294	chr11:35243218-35243219	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs367748482	chr11:35243224-35243225	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs556910456	chr11:35243231-35243232	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs570322857	chr11:35243235-35243236	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs185210904	chr11:35243250-35243251	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs199709575	chr11:35243256-35243257	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs143143310	chr11:35243271-35243272	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs61752932	chr11:35243273-35243274	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374931540	chr11:35243286-35243287	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55698889	chr11:35243299-35243300	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541545598	chr11:35243346-35243347	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554741193	chr11:35243366-35243367	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574794367	chr11:35243390-35243391	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543415151	chr11:35243402-35243403	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540509554	chr11:35243418-35243419	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55715534	chr11:35243433-35243434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs55927167	chr11:35243434-35243435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544894185	chr11:35243445-35243446	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55881141	chr11:35243449-35243450	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540229394	chr11:35243475-35243476	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs56014592	chr11:35243478-35243479	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56253227	chr11:35243514-35243515	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56187764	chr11:35243515-35243516	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567215445	chr11:35243548-35243549	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529702372	chr11:35243616-35243617	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs55927701	chr11:35243619-35243620	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144933122	chr11:35243723-35243724	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs180734367	chr11:35243733-35243734	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552887110	chr11:35243787-35243788	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147546247	chr11:35243805-35243806	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534875097	chr11:35243813-35243814	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555058212	chr11:35243816-35243817	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs28454562	chr11:35243838-35243839	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77890226	chr11:35243839-35243840	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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
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
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
3	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
7	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:35233400-35259600	Weak transcription	Liver	Liver
9	chr11:35234200-35247400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:35235200-35249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:35235800-35244200	Strong transcription	Fetal Muscle Leg	muscle
12	chr11:35236000-35243000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:35236000-35245200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:35236000-35247600	Strong transcription	Dnd41	blood
15	chr11:35236000-35248000	Strong transcription	Primary hematopoietic stem cells	blood
16	chr11:35236200-35252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:35236200-35254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:35236400-35253400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:35236400-35253400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:35236800-35248400	Strong transcription	Adipose Nuclei	Adipose
21	chr11:35236800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
23	chr11:35237000-35247000	Strong transcription	Hela-S3	cervix
24	chr11:35237000-35253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:35237000-35254600	Strong transcription	HSMM	muscle
26	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
27	chr11:35237600-35243600	Strong transcription	Lung	lung
28	chr11:35238200-35250600	Weak transcription	Stomach Mucosa	stomach
29	chr11:35238400-35248000	Weak transcription	Right Ventricle	heart
30	chr11:35238800-35243000	Weak transcription	Gastric	stomach
31	chr11:35238800-35243800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:35238800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:35239200-35243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:35239200-35245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:35239200-35247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:35239200-35248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:35239200-35248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:35239200-35249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:35239200-35253200	Strong transcription	NHEK	skin
40	chr11:35239200-35253600	Strong transcription	HMEC	breast
41	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:35239400-35246800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:35239400-35246800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:35239400-35247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr11:35239400-35247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:35239400-35247800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:35239400-35249000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:35239400-35253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:35239800-35251600	Weak transcription	Ovary	ovary
50	chr11:35239800-35254600	Strong transcription	Primary T cells fromperipheralblood	blood

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