Variant report

Variant	nsv517429
Chromosome Location	chr11:34196484-34199849
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:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:34194851..34196566-chr11:34380231..34381621,20	MCF-7	breast:
2	chr11:33829510..33830030-chr11:34195544..34196521,2	K562	blood:
3	chr11:34199620..34202889-chr11:34205068..34208989,4	K562	blood:
4	chr11:34195960..34197951-chr11:34375178..34377158,2	MCF-7	breast:
5	chr11:34194574..34196740-chr11:34221651..34224384,2	K562	blood:
6	chr11:34187334..34191068-chr11:34191112..34197188,7	K562	blood:
7	chr11:34194734..34196633-chr11:34370779..34372924,2	MCF-7	breast:
8	chr11:34185403..34188000-chr11:34196564..34198750,2	MCF-7	breast:
9	chr11:34197728..34198296-chr11:34380470..34381106,2	MCF-7	breast:
10	chr11:34195400..34196504-chr11:34379832..34381736,16	MCF-7	breast:
11	chr11:34197536..34200208-chr11:34383082..34386079,2	K562	blood:
12	chr11:34194502..34196652-chr11:34202672..34204738,2	MCF-7	breast:
13	chr11:34195492..34196865-chr11:34379079..34381984,35	K562	blood:
14	chr11:34195619..34196581-chr11:34378000..34378999,2	MCF-7	breast:
15	chr11:34192703..34198960-chr11:34377862..34381176,7	MCF-7	breast:
16	chr11:34198458..34205212-chr11:34376041..34381079,14	MCF-7	breast:
17	chr11:34189648..34198426-chr11:34377718..34382191,19	MCF-7	breast:
18	chr11:34195965..34197005-chr11:34489545..34490431,3	K562	blood:
19	chr11:34195780..34196501-chr11:34488819..34489403,2	K562	blood:
20	chr11:34071760..34074563-chr11:34194562..34197437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions
ENSG00000135387	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2467383	chr11:34196484-34196485	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555743418	chr11:34196499-34196500	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs369763138	chr11:34196513-34196514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575906357	chr11:34196536-34196537	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544250488	chr11:34196543-34196544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116713471	chr11:34196551-34196552	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs578094110	chr11:34196552-34196553	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540730303	chr11:34196563-34196564	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558294344	chr11:34196564-34196565	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190062303	chr11:34196569-34196570	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528258079	chr11:34196590-34196591	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs114627368	chr11:34196599-34196600	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs12801170	chr11:34196610-34196611	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs576568266	chr11:34196688-34196689	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373741235	chr11:34196733-34196734	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181425747	chr11:34196767-34196768	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544046027	chr11:34196824-34196825	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530812480	chr11:34196838-34196839	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550637133	chr11:34196869-34196870	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73507403	chr11:34196873-34196874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11032536	chr11:34196900-34196901	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2467382	chr11:34196958-34196959	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541060862	chr11:34197004-34197005	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs566239010	chr11:34197035-34197036	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372166226	chr11:34197071-34197072	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185276205	chr11:34197128-34197129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555946214	chr11:34197137-34197138	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1321019	chr11:34197185-34197186	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189980086	chr11:34197212-34197213	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs1321018	chr11:34197245-34197246	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs578037513	chr11:34197285-34197286	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545186556	chr11:34197318-34197319	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs61302405	chr11:34197389-34197390	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs540643092	chr11:34197408-34197409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370350267	chr11:34197449-34197450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563457641	chr11:34197472-34197473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79821532	chr11:34197480-34197481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76762416	chr11:34197534-34197535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2467381	chr11:34197535-34197536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374799058	chr11:34197548-34197549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542783445	chr11:34197560-34197561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2955939	chr11:34197579-34197580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183781915	chr11:34197637-34197638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11032537	chr11:34197656-34197657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564041271	chr11:34197683-34197684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567608203	chr11:34197699-34197700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188935246	chr11:34197711-34197712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147026401	chr11:34197775-34197776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs566200119	chr11:34197776-34197777	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192008824	chr11:34197813-34197814	Weak transcription 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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34183600-34198000	Weak transcription	Fetal Lung	lung
2	chr11:34192800-34203000	Weak transcription	Aorta	Aorta
3	chr11:34193800-34198400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:34195200-34196600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:34195400-34196600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:34195400-34196600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr11:34195400-34196800	Enhancers	Brain Angular Gyrus	brain
8	chr11:34195400-34197000	Enhancers	Fetal Thymus	thymus
9	chr11:34195600-34196600	Active TSS	Fetal Brain Female	brain
10	chr11:34195800-34196600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:34195800-34196600	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr11:34195800-34196600	Flanking Active TSS	Placenta	Placenta
13	chr11:34195800-34196600	Enhancers	Pancreas	Pancrea
14	chr11:34195800-34196800	Enhancers	Spleen	Spleen
15	chr11:34196000-34196600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:34196000-34196600	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr11:34196000-34196600	Enhancers	Left Ventricle	heart
18	chr11:34196000-34196600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:34196000-34196600	Enhancers	Psoas Muscle	Psoas
20	chr11:34196000-34197000	Enhancers	HSMMtube	muscle
21	chr11:34196200-34196600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:34196200-34196600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:34196200-34196600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr11:34196200-34196600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:34196200-34196600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:34196200-34196600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:34196200-34196600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr11:34196200-34196600	Enhancers	Esophagus	oesophagus
29	chr11:34196200-34196600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr11:34196200-34196600	Enhancers	Stomach Mucosa	stomach
31	chr11:34196200-34196600	Flanking Active TSS	Hela-S3	cervix
32	chr11:34196200-34196800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:34196200-34196800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:34196200-34196800	Enhancers	Fetal Stomach	stomach
35	chr11:34196200-34197200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:34196200-34197400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:34196200-34198000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr11:34196200-34198800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:34196200-34199000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:34196200-34207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:34196400-34196600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:34196400-34196600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:34196400-34196600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:34196400-34196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:34196400-34196600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:34196400-34196600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:34196400-34196600	Active TSS	Adipose Nuclei	Adipose
48	chr11:34196400-34196600	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:34196400-34196600	Enhancers	Colon Smooth Muscle	Colon
50	chr11:34196400-34196600	Enhancers	Fetal Heart	heart

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