Variant report

Variant	nsv1049551
Chromosome Location	chr11:34811180-34833640
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34823587..34826482-chr11:34851054..34853222,2	K562	blood:
2	chr11:34809055..34812032-chr11:34846075..34848426,2	K562	blood:
3	chr11:34828027..34830310-chr11:34842836..34844990,2	K562	blood:
4	chr11:34819205..34826551-chr11:34829823..34835499,8	K562	blood:
5	chr11:34823667..34825703-chr11:34832026..34833847,2	K562	blood:
6	chr11:34807272..34809273-chr11:34809643..34812382,3	K562	blood:
7	chr11:34819205..34826551-chr11:34829823..34835499,8	K562	blood:
8	chr11:34823667..34825703-chr11:34832026..34833847,2	K562	blood:
9	chr11:34830057..34832042-chr11:34848126..34850634,2	K562	blood:
10	chr11:34631109..34633523-chr11:34830130..34832941,2	K562	blood:
11	chr11:34828929..34832909-chr11:34833620..34837580,5	K562	blood:
12	chr11:34621759..34624230-chr11:34829278..34830946,2	K562	blood:
13	chr11:34832979..34835085-chr11:34846978..34849225,2	K562	blood:
14	chr11:34814107..34816684-chr11:34826234..34828652,3	K562	blood:
15	chr11:34831080..34832844-chr11:34868501..34870661,2	K562	blood:
16	chr11:34777504..34779332-chr11:34816777..34819047,2	MCF-7	breast:
17	chr11:34814107..34816684-chr11:34826234..34828652,3	K562	blood:
18	chr11:34820151..34822976-chr11:34824163..34828080,3	K562	blood:
19	chr11:34820151..34822976-chr11:34824163..34828080,3	K562	blood:
20	chr11:34828810..34832933-chr11:34843194..34845330,4	K562	blood:
21	chr11:34802267..34806129-chr11:34812467..34815224,3	K562	blood:
22	chr11:34827577..34829280-chr11:34846794..34848443,2	K562	blood:
23	chr11:34830393..34833642-chr11:34837362..34839934,3	K562	blood:
24	chr11:34805559..34807304-chr11:34808633..34811203,2	K562	blood:
25	chr11:34828929..34832909-chr11:34833620..34837580,5	K562	blood:
26	chr11:34831422..34835034-chr11:34838233..34841793,4	K562	blood:

No data

Extended variants
information (count: 837 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10501135	chr11:34811180-34811181	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552849145	chr11:34811199-34811200	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10768101	chr11:34811218-34811219	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538426553	chr11:34811249-34811250	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180891766	chr11:34811259-34811260	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139876494	chr11:34811269-34811270	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545657648	chr11:34811288-34811289	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559719175	chr11:34811304-34811305	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80033546	chr11:34811339-34811340	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532031236	chr11:34811383-34811384	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549950303	chr11:34811401-34811402	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541896978	chr11:34811404-34811405	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186343122	chr11:34811410-34811411	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530479387	chr11:34811454-34811455	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191091964	chr11:34811468-34811469	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570422919	chr11:34811488-34811489	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183358943	chr11:34811540-34811541	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546861251	chr11:34811562-34811563	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78608290	chr11:34811692-34811693	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386752379	chr11:34811697-34811698	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75397888	chr11:34811698-34811699	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554177641	chr11:34811741-34811742	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535984683	chr11:34811795-34811796	Strong transcription Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187076222	chr11:34811806-34811807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs558261632	chr11:34811873-34811874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs547884783	chr11:34811875-34811876	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs58187471	chr11:34811893-34811894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113671704	chr11:34811908-34811909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs34767782	chr11:34811919-34811920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs71481474	chr11:34811920-34811921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2217480	chr11:34811928-34811929	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539660470	chr11:34811953-34811954	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553203864	chr11:34811978-34811979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573031098	chr11:34811983-34811984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143354997	chr11:34811993-34811994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561932639	chr11:34811994-34811995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575214504	chr11:34812005-34812006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs543838076	chr11:34812062-34812063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191161947	chr11:34812067-34812068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532876058	chr11:34812136-34812137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11600128	chr11:34812140-34812141	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560315973	chr11:34812198-34812199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs545524815	chr11:34812208-34812209	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372988591	chr11:34812215-34812216	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183422384	chr11:34812245-34812246	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538272552	chr11:34812253-34812254	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557810915	chr11:34812272-34812273	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371212206	chr11:34812327-34812328	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112902192	chr11:34812338-34812339	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551476267	chr11:34812376-34812377	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34802800-34811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:34805800-34812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:34806000-34814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:34806400-34812200	Weak transcription	Stomach Mucosa	stomach
5	chr11:34806600-34812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:34809000-34811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:34809200-34811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:34809800-34813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:34810000-34811400	Enhancers	Esophagus	oesophagus
10	chr11:34810200-34811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:34810400-34813800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr11:34810800-34811800	Enhancers	Colonic Mucosa	Colon
13	chr11:34810800-34811800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:34810800-34813200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:34811000-34811800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:34811200-34811800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:34811400-34811800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:34811400-34811800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:34811400-34816000	Weak transcription	Esophagus	oesophagus
20	chr11:34811800-34812400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:34811800-34813200	Weak transcription	Colonic Mucosa	Colon
22	chr11:34811800-34813800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:34811800-34814000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:34811800-34814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:34811800-34818800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:34812200-34815000	Enhancers	Stomach Mucosa	stomach
27	chr11:34812400-34812600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:34812400-34813000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:34812400-34813200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:34812400-34815400	Enhancers	Liver	Liver
31	chr11:34812400-34815400	Enhancers	HUVEC	blood vessel
32	chr11:34812600-34814400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:34812600-34815000	Enhancers	HepG2	liver
34	chr11:34812800-34813400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr11:34812800-34814200	Enhancers	Primary hematopoietic stem cells	blood
36	chr11:34812800-34815600	Enhancers	Brain Substantia Nigra	brain
37	chr11:34812800-34817800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:34813000-34814000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:34813000-34814200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:34813000-34814400	Enhancers	Psoas Muscle	Psoas
41	chr11:34813000-34815000	Enhancers	Brain Hippocampus Middle	brain
42	chr11:34813200-34813400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:34813200-34813400	Enhancers	Colonic Mucosa	Colon
44	chr11:34813200-34813400	Enhancers	NHLF	lung
45	chr11:34813200-34813600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:34813200-34814400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:34813200-34814600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr11:34813200-34814600	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:34813200-34815200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:34813200-34815600	Enhancers	Brain Anterior Caudate	brain

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