Variant report

Variant	nsv897218
Chromosome Location	chr11:35241989-35261374
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:20)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35256103..35261501-chr11:35384186..35388588,8	MCF-7	breast:
2	chr11:35258928..35261277-chr11:35264057..35266573,2	K562	blood:
3	chr11:35258018..35260931-chr11:35412299..35415204,2	MCF-7	breast:
4	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
5	chr11:35237824..35241219-chr11:35241266..35244323,3	K562	blood:
6	chr11:34961886..34962391-chr11:35259545..35260066,2	MCF-7	breast:
7	chr11:35239197..35241222-chr11:35241984..35244543,2	MCF-7	breast:
8	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
9	chr11:35253589..35256594-chr11:35257104..35259626,3	MCF-7	breast:
10	chr11:35121498..35123460-chr11:35254836..35257289,2	K562	blood:
11	chr11:35260075..35262709-chr11:35271623..35274355,2	K562	blood:
12	chr11:35253382..35256689-chr11:35262779..35266276,3	K562	blood:
13	chr11:34938207..34939863-chr11:35260000..35262264,2	K562	blood:
14	chr11:35252011..35252895-chr9:127020158..127020913,2	Hela-S3	cervix:
15	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:
16	chr11:35241455..35243081-chr11:35243204..35244959,2	MCF-7	breast:
17	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
18	chr11:35253382..35256369-chr11:35263187..35265388,2	K562	blood:
19	chr11:35251288..35252930-chr11:35253929..35256719,2	K562	blood:
20	chr11:35249750..35251832-chr11:35258171..35261119,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC1A2-4	chr11:35254171-35254874	NONHSAT018787
2	lnc-SLC1A2-4	chr11:35254902-35256403	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-216a-5p	chr11:35253535-35253556
2	CD44	hsa-miR-520c-3p	chr11:35253881-35253903
3	CD44	hsa-miR-373-3p	chr11:35253880-35253903
4	CD44	hsa-miR-373-3p	chr11:35253896-35253903
5	CD44	hsa-miR-520c-3p	chr11:35253896-35253903
6	CD44	hsa-miR-328-3p	chr11:35251070-35251091
7	CD44	hsa-miR-708-5p	chr11:35252486-35252508

Variant related genes	Relation type
ENSG00000119408	chromatin interactions
ENSG00000026508	chromatin interactions

Extended variants
information (count: 761 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7945310	chr11:35241989-35241990	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72916161	chr11:35242021-35242022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571299938	chr11:35242068-35242069	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182933222	chr11:35242085-35242086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188516282	chr11:35242146-35242147	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549112921	chr11:35242185-35242186	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568952526	chr11:35242277-35242278	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2065006	chr11:35242285-35242286	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557412710	chr11:35242302-35242303	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530082592	chr11:35242309-35242310	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34175178	chr11:35242331-35242332	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12291116	chr11:35242375-35242376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs532246978	chr11:35242382-35242383	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12291025	chr11:35242423-35242424	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72916162	chr11:35242462-35242463	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542949464	chr11:35242467-35242468	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs10742333	chr11:35242500-35242501	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141993215	chr11:35242535-35242536	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545546366	chr11:35242541-35242542	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2065005	chr11:35242542-35242543	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191386383	chr11:35242560-35242561	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547728472	chr11:35242588-35242589	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs57989906	chr11:35242590-35242591	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188279952	chr11:35242595-35242596	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371493018	chr11:35242602-35242603	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548994439	chr11:35242612-35242613	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533744674	chr11:35242630-35242631	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374487874	chr11:35242637-35242638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79148089	chr11:35242653-35242654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2065004	chr11:35242660-35242661	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116452356	chr11:35242680-35242681	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533558913	chr11:35242693-35242694	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374284099	chr11:35242709-35242710	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553778266	chr11:35242730-35242731	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113674880	chr11:35242736-35242737	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183675204	chr11:35242737-35242738	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556557873	chr11:35242763-35242764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573241308	chr11:35242784-35242785	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545584730	chr11:35242861-35242862	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559101587	chr11:35242870-35242871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10734436	chr11:35242907-35242908	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs541160853	chr11:35242983-35242984	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561373214	chr11:35243017-35243018	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141874147	chr11:35243021-35243022	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150672444	chr11:35243042-35243043	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187646837	chr11:35243060-35243061	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531414525	chr11:35243083-35243084	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139832018	chr11:35243095-35243096	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192608200	chr11:35243105-35243106	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527423018	chr11:35243121-35243122	Weak transcription 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:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr11:35236200-35242000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:35236200-35252200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:35236200-35254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:35236400-35242000	Genic enhancers	Fetal Thymus	thymus
20	chr11:35236400-35253400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:35236400-35253400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:35236800-35248400	Strong transcription	Adipose Nuclei	Adipose
23	chr11:35236800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:35236800-35259600	Weak transcription	Psoas Muscle	Psoas
25	chr11:35237000-35247000	Strong transcription	Hela-S3	cervix
26	chr11:35237000-35253000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:35237000-35254600	Strong transcription	HSMM	muscle
28	chr11:35237000-35259600	Weak transcription	HUVEC	blood vessel
29	chr11:35237600-35243600	Strong transcription	Lung	lung
30	chr11:35238200-35250600	Weak transcription	Stomach Mucosa	stomach
31	chr11:35238400-35248000	Weak transcription	Right Ventricle	heart
32	chr11:35238800-35243000	Weak transcription	Gastric	stomach
33	chr11:35238800-35243800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:35238800-35253200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:35239200-35243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:35239200-35245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:35239200-35247200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:35239200-35248000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:35239200-35248800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:35239200-35249600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:35239200-35253200	Strong transcription	NHEK	skin
42	chr11:35239200-35253600	Strong transcription	HMEC	breast
43	chr11:35239200-35257600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:35239400-35246800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:35239400-35246800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:35239400-35247200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:35239400-35247200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:35239400-35247800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:35239400-35249000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:35239400-35253800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links