Variant report

Variant	nsv975326
Chromosome Location	chr11:35103908-35125981
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:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:35118109..35120819-chr11:35160068..35162189,2	MCF-7	breast:
2	chr11:35122584..35124925-chr11:35126765..35129371,2	MCF-7	breast:
3	chr11:35121360..35123846-chr11:35132606..35135309,2	K562	blood:
4	chr11:35109556..35112078-chr11:35117913..35120120,2	MCF-7	breast:
5	chr11:35110163..35112423-chr11:35159701..35161676,2	MCF-7	breast:
6	chr11:35123609..35125478-chr11:35160638..35163395,2	MCF-7	breast:
7	chr11:35109556..35112078-chr11:35117913..35120120,2	MCF-7	breast:
8	chr11:35097231..35099674-chr11:35101240..35103980,3	K562	blood:
9	chr11:35119495..35120096-chr11:35412276..35412995,2	MCF-7	breast:
10	chr11:35121498..35123460-chr11:35254836..35257289,2	K562	blood:
11	chr11:35123473..35125204-chr11:35129634..35132229,2	MCF-7	breast:
12	chr11:35104262..35106718-chr11:35159601..35161198,2	MCF-7	breast:
13	chr11:35119423..35121112-chr11:35124669..35126752,2	MCF-7	breast:
14	chr11:35119423..35121112-chr11:35124669..35126752,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD44-4	chr11:35124735-35124991	NONHSAT018773
2	lnc-PDHX-3	chr11:35119168-35119365	NONHSAT018768
3	lnc-PDHX-3	chr11:35109985-35110151	NONHSAT018768
4	lnc-PDHX-3	chr11:35119065-35120242	NONHSAT018772
5	lnc-PDHX-3	chr11:35107760-35107870	NONHSAT018772
6	lnc-PDHX-3	chr11:35112276-35112331	NONHSAT018772
7	lnc-PDHX-3	chr11:35108965-35110133	NONHSAT018772

No data

Variant related genes	Relation type
ENSG00000026508	chromatin interactions

Extended variants
information (count: 874 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571717169	chr11:35103914-35103915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75338438	chr11:35103919-35103920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561473131	chr11:35103935-35103936	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530292171	chr11:35103983-35103984	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569494004	chr11:35104010-35104011	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs543688069	chr11:35104016-35104017	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs536397667	chr11:35104020-35104021	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs115055721	chr11:35104030-35104031	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs548873415	chr11:35104071-35104072	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs532828239	chr11:35104074-35104075	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs78766042	chr11:35104080-35104081	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs182030233	chr11:35104093-35104094	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs559740695	chr11:35104094-35104095	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs16926820	chr11:35104108-35104109	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547664400	chr11:35104111-35104112	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs567485430	chr11:35104119-35104120	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs2785192	chr11:35104156-35104157	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs534503547	chr11:35104178-35104179	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs79044209	chr11:35104179-35104180	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs185796931	chr11:35104180-35104181	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs538306434	chr11:35104189-35104190	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs558273003	chr11:35104197-35104198	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs571706148	chr11:35104230-35104231	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs138897426	chr11:35104315-35104316	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555226195	chr11:35104318-35104319	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574998609	chr11:35104323-35104324	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544116406	chr11:35104335-35104336	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189976449	chr11:35104338-35104339	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576814628	chr11:35104343-35104344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563682030	chr11:35104393-35104394	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182146603	chr11:35104398-35104399	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546308878	chr11:35104407-35104408	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559930476	chr11:35104426-35104427	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2785191	chr11:35104432-35104433	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12785921	chr11:35104439-35104440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548256440	chr11:35104460-35104461	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149391273	chr11:35104492-35104493	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529902794	chr11:35104498-35104499	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111398036	chr11:35104564-35104565	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs201611527	chr11:35104565-35104566	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34941438	chr11:35104566-35104567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550058434	chr11:35104619-35104620	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73441065	chr11:35104632-35104633	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574297520	chr11:35104641-35104642	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144783528	chr11:35104658-35104659	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551835360	chr11:35104661-35104662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186132590	chr11:35104807-35104808	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200240528	chr11:35104809-35104810	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148595993	chr11:35104823-35104824	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144487143	chr11:35104879-35104880	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35097600-35106400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:35097800-35106600	Enhancers	Fetal Thymus	thymus
3	chr11:35098800-35104000	Weak transcription	Psoas Muscle	Psoas
4	chr11:35098800-35104000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:35098800-35104000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:35098800-35105400	Weak transcription	Small Intestine	intestine
7	chr11:35099400-35104400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:35099600-35104000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr11:35099800-35104000	Weak transcription	Stomach Mucosa	stomach
10	chr11:35099800-35104200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:35100200-35104000	Enhancers	Primary B cells from cord blood	blood
12	chr11:35102400-35104000	Weak transcription	Thymus	Thymus
13	chr11:35103000-35104000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:35103200-35104000	Enhancers	NHLF	lung
15	chr11:35103200-35104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:35103200-35104800	Enhancers	NHDF-Ad	bronchial
17	chr11:35103200-35106600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:35103200-35106800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:35103200-35107800	Enhancers	Adipose Nuclei	Adipose
20	chr11:35103200-35110600	Enhancers	Fetal Muscle Leg	muscle
21	chr11:35103400-35104400	Enhancers	HUVEC	blood vessel
22	chr11:35103400-35104800	Enhancers	Spleen	Spleen
23	chr11:35103400-35105400	Enhancers	Pancreas	Pancrea
24	chr11:35103400-35106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:35103600-35105400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:35103600-35105600	Enhancers	Placenta	Placenta
27	chr11:35103600-35106800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:35103600-35108400	Enhancers	Fetal Muscle Trunk	muscle
29	chr11:35103800-35104000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:35103800-35104000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:35103800-35104000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:35103800-35104000	Active TSS	Colonic Mucosa	Colon
33	chr11:35103800-35104000	Flanking Active TSS	A549	lung
34	chr11:35103800-35104000	Enhancers	HSMM	muscle
35	chr11:35103800-35104200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:35103800-35104200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:35103800-35104200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:35103800-35104200	Enhancers	Gastric	stomach
39	chr11:35103800-35104200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr11:35103800-35104200	Enhancers	Rectal Smooth Muscle	rectum
41	chr11:35103800-35104200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:35103800-35104200	Flanking Active TSS	NH-A	brain
43	chr11:35103800-35104400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:35103800-35104600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:35103800-35104600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr11:35103800-35104600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:35103800-35104600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:35103800-35104600	Enhancers	HSMMtube	muscle
49	chr11:35103800-35104800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:35103800-35104800	Enhancers	Right Atrium	heart

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