Variant report

Variant	nsv553445
Chromosome Location	chr11:8201305-8215853
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8213913..8214737-chr11:8588214..8589161,2	K562	blood:
2	chr11:8213801..8214811-chr11:8255818..8256741,4	MCF-7	breast:
3	chr11:8191876..8193485-chr11:8198068..8201621,3	K562	blood:
4	chr11:8213811..8214943-chr11:8230472..8231459,4	K562	blood:
5	chr11:8213784..8214547-chr11:8246894..8247601,2	K562	blood:
6	chr11:8207451..8210232-chr11:8343773..8345724,2	K562	blood:
7	chr11:8214233..8214925-chr11:8331212..8332019,2	MCF-7	breast:
8	chr11:8214526..8217689-chr11:8218013..8220798,3	K562	blood:
9	chr11:8213871..8214757-chr11:8285265..8285950,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUB-1	chr11:8201638-8201790	NONHSAT017844

No data

Variant related genes	Relation type
ENSG00000166407	chromatin interactions

Extended variants
information (count: 672 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7479133	chr11:8201305-8201306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141162667	chr11:8201325-8201326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563070695	chr11:8201349-8201350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7479738	chr11:8201355-8201356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562859917	chr11:8201378-8201379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7479156	chr11:8201417-8201418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565289849	chr11:8201439-8201440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527741224	chr11:8201440-8201441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5789565	chr11:8201460-8201461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386750475	chr11:8201461-8201462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61881293	chr11:8201462-8201463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150706727	chr11:8201493-8201494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7481907	chr11:8201496-8201497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7481742	chr11:8201507-8201508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139997721	chr11:8201537-8201538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537761658	chr11:8201620-8201621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557289223	chr11:8201628-8201629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562608750	chr11:8201656-8201657	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577219662	chr11:8201662-8201663	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs10743053	chr11:8201663-8201664	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115977543	chr11:8201674-8201675	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs533151953	chr11:8201690-8201691	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs7927258	chr11:8201691-8201692	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10743054	chr11:8201715-8201716	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs563114038	chr11:8201719-8201720	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576620170	chr11:8201754-8201755	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs182403557	chr11:8201763-8201764	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs566659956	chr11:8201798-8201799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10743055	chr11:8201800-8201801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547895300	chr11:8201949-8201950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7943220	chr11:8201980-8201981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530230581	chr11:8202006-8202007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548867679	chr11:8202032-8202033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370652846	chr11:8202056-8202057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186741160	chr11:8202057-8202058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551303755	chr11:8202061-8202062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192106463	chr11:8202099-8202100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533571692	chr11:8202104-8202105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553751872	chr11:8202122-8202123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111345403	chr11:8202128-8202129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536357972	chr11:8202136-8202137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149863083	chr11:8202149-8202150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147536020	chr11:8202185-8202186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545705379	chr11:8202186-8202187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559324759	chr11:8202209-8202210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140116239	chr11:8202226-8202227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201682788	chr11:8202239-8202240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561350581	chr11:8202282-8202283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188599985	chr11:8202283-8202284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377113436	chr11:8202288-8202289	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8200200-8202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:8200200-8202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:8201600-8202400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr11:8201800-8202400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:8201800-8202600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:8202000-8202200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:8202000-8202400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:8202000-8202400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:8202000-8202600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:8202000-8202600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:8202400-8202600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:8202600-8213800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:8204000-8205600	Enhancers	Hela-S3	cervix
14	chr11:8212000-8213000	Enhancers	Brain Germinal Matrix	brain
15	chr11:8212200-8212400	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:8212400-8212600	Enhancers	Spleen	Spleen
17	chr11:8212400-8212800	Bivalent Enhancer	Fetal Stomach	stomach
18	chr11:8212400-8213000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:8212800-8213000	Enhancers	Esophagus	oesophagus
20	chr11:8213000-8214200	Weak transcription	Brain Germinal Matrix	brain
21	chr11:8213600-8214600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:8213600-8214600	Enhancers	Esophagus	oesophagus
23	chr11:8213800-8214000	Enhancers	Colonic Mucosa	Colon
24	chr11:8213800-8214400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:8213800-8215000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:8213800-8215200	Enhancers	Brain Hippocampus Middle	brain
27	chr11:8214000-8214600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:8214000-8214600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr11:8214000-8214600	Enhancers	Brain Substantia Nigra	brain
30	chr11:8214000-8214800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:8214000-8215400	Enhancers	Primary B cells from peripheral blood	blood
32	chr11:8214200-8214600	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr11:8214200-8214800	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr11:8214200-8215200	Enhancers	Brain Germinal Matrix	brain
35	chr11:8214200-8215200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:8214400-8214600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:8214400-8214600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr11:8214400-8214600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr11:8214400-8214600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr11:8214400-8214600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr11:8214400-8214600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr11:8214400-8214600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:8214400-8214600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:8214400-8214600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr11:8214400-8214600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr11:8214400-8214600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr11:8214400-8214600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr11:8214400-8214600	Enhancers	Hela-S3	cervix
49	chr11:8214400-8214800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:8214400-8214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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