Variant report

Variant	nsv897215
Chromosome Location	chr11:35009233-35048359
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35015301..35017003-chr11:35017978..35019593,2	MCF-7	breast:
2	chr11:35026967..35028548-chr11:35162664..35165084,2	MCF-7	breast:
3	chr11:35010440..35012393-chr11:35410828..35413742,2	MCF-7	breast:
4	chr11:35026796..35028891-chr11:35159653..35162331,2	MCF-7	breast:
5	chr11:35039461..35041795-chr11:35050641..35052600,2	K562	blood:
6	chr11:35026581..35028709-chr11:35030070..35032050,2	K562	blood:
7	chr11:35022176..35024794-chr17:57830885..57833390,2	MCF-7	breast:
8	chr11:35020698..35022815-chr11:35039638..35042046,2	K562	blood:
9	chr11:35039282..35042124-chr11:35049320..35051716,2	MCF-7	breast:
10	chr11:35023109..35024756-chr11:35037668..35039573,2	K562	blood:
11	chr11:35027303..35029685-chr11:35029694..35032602,2	MCF-7	breast:
12	chr11:35026581..35028709-chr11:35030070..35032050,2	K562	blood:
13	chr11:35023109..35024756-chr11:35037668..35039573,2	K562	blood:
14	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:
15	chr11:35019170..35019966-chr11:35413526..35414443,3	MCF-7	breast:
16	chr11:35011432..35012993-chr11:35018047..35020320,2	K562	blood:
17	chr11:35019169..35019982-chr11:35413483..35414010,3	K562	blood:
18	chr11:35038263..35041721-chr11:35159851..35162201,3	MCF-7	breast:
19	chr11:35015301..35017003-chr11:35017978..35019593,2	MCF-7	breast:
20	chr11:35020698..35022815-chr11:35039638..35042046,2	K562	blood:
21	chr11:35027303..35029685-chr11:35029694..35032602,2	MCF-7	breast:
22	chr11:35011432..35012993-chr11:35018047..35020320,2	K562	blood:
23	chr11:35021693..35023212-chr11:35050497..35053250,2	MCF-7	breast:
24	chr1:121484265..121484831-chr11:35019171..35020047,2	MCF-7	breast:
25	chr11:35028741..35031427-chr11:35032787..35035913,3	K562	blood:

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PDHX	hsa-miR-181b-5p	chr11:35017369-35017389
2	PDHX	hsa-miR-29c-3p	chr11:35016953-35016978
3	PDHX	hsa-miR-181d-5p	chr11:35017036-35017058
4	PDHX	hsa-miR-29c-3p	chr11:35016971-35016977
5	PDHX	hsa-miR-181d-5p	chr11:35017367-35017389
6	PDHX	hsa-miR-26b-5p	chr11:35017173-35017194
7	PDHX	hsa-miR-181b-5p	chr11:35017036-35017058
8	PDHX	hsa-miR-26b-5p	chr11:35017187-35017194

Variant related genes	Relation type
ENSG00000026508	chromatin interactions

Extended variants
information (count: 1495 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1495 , 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	rs2762954	chr11:35009233-35009234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184663350	chr11:35009244-35009245	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112606585	chr11:35009255-35009256	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145553787	chr11:35009276-35009277	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372421099	chr11:35009277-35009278	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569825560	chr11:35009279-35009280	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143653841	chr11:35009296-35009297	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10836327	chr11:35009297-35009298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11032969	chr11:35009301-35009302	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558458200	chr11:35009313-35009314	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs137896711	chr11:35009323-35009324	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149493002	chr11:35009340-35009341	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190002330	chr11:35009483-35009484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574481544	chr11:35009489-35009490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543016583	chr11:35009497-35009498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143940835	chr11:35009499-35009500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576940953	chr11:35009557-35009558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181228891	chr11:35009558-35009559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184892507	chr11:35009602-35009603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2767045	chr11:35009615-35009616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112471707	chr11:35009655-35009656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542418860	chr11:35009696-35009697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562009995	chr11:35009717-35009718	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531058316	chr11:35009731-35009732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550826215	chr11:35009755-35009756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564125287	chr11:35009779-35009780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368212272	chr11:35009822-35009823	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs552047680	chr11:35009825-35009826	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371742823	chr11:35009854-35009855	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141241090	chr11:35009857-35009858	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534466745	chr11:35009959-35009960	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548381404	chr11:35009980-35009981	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568034226	chr11:35009981-35009982	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189796780	chr11:35009984-35009985	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556812529	chr11:35010002-35010003	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374437700	chr11:35010042-35010043	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs377518569	chr11:35010051-35010052	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557485887	chr11:35010105-35010106	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201687707	chr11:35010106-35010107	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs200648599	chr11:35010109-35010110	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs113972528	chr11:35010110-35010111	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181764881	chr11:35010120-35010121	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs57223441	chr11:35010121-35010122	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201267227	chr11:35010122-35010123	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146276380	chr11:35010180-35010181	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs566348868	chr11:35010191-35010192	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574967992	chr11:35010256-35010257	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs1011519	chr11:35010329-35010330	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs1011518	chr11:35010469-35010470	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs80254215	chr11:35010532-35010533	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers	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
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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:921 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34952200-35010800	Weak transcription	Small Intestine	intestine
2	chr11:34959000-35019600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr11:34976600-35018400	Weak transcription	Spleen	Spleen
4	chr11:34977800-35009800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:34982200-35014200	Weak transcription	Fetal Brain Male	brain
6	chr11:34983600-35018200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:34985200-35026600	Weak transcription	Colonic Mucosa	Colon
8	chr11:34987000-35017000	Weak transcription	K562	blood
9	chr11:34991000-35020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:34992400-35009400	Weak transcription	GM12878-XiMat	blood
11	chr11:34992400-35016600	Weak transcription	Fetal Heart	heart
12	chr11:34997600-35019600	Weak transcription	Fetal Kidney	kidney
13	chr11:34999000-35018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:35000400-35009400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:35000600-35035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:35000800-35009800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:35000800-35010600	Weak transcription	Primary T cells from cord blood	blood
18	chr11:35000800-35013200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:35000800-35018200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:35000800-35019600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:35000800-35019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:35000800-35031000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:35001000-35014400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:35001000-35019600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:35001000-35019600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:35001000-35019600	Weak transcription	HMEC	breast
27	chr11:35001000-35021200	Weak transcription	Lung	lung
28	chr11:35001200-35019600	Weak transcription	NHEK	skin
29	chr11:35002400-35010200	Weak transcription	Hela-S3	cervix
30	chr11:35005600-35009600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:35005600-35011200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:35005600-35011200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:35005800-35009400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:35005800-35011600	Strong transcription	Adipose Nuclei	Adipose
35	chr11:35006000-35009400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:35006000-35009400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:35006400-35011800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:35006400-35016400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:35006800-35009800	Weak transcription	HSMMtube	muscle
40	chr11:35006800-35019600	Weak transcription	HUVEC	blood vessel
41	chr11:35007000-35018600	Weak transcription	Thymus	Thymus
42	chr11:35007000-35019600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:35007000-35020600	Weak transcription	Placenta	Placenta
44	chr11:35007000-35026600	Weak transcription	Fetal Intestine Small	intestine
45	chr11:35007000-35028000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:35007000-35029800	Weak transcription	Esophagus	oesophagus
47	chr11:35007200-35011000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:35007200-35017600	Weak transcription	Brain Anterior Caudate	brain
49	chr11:35007200-35018200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:35007200-35035200	Weak transcription	Fetal Stomach	stomach

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