Variant report

Variant	nsv975087
Chromosome Location	chr11:4166641-4168239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4164447..4167814-chr11:4181176..4184235,3	K562	blood:
2	chr11:4164447..4167115-chr11:4182459..4184235,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118137907	chr11:4166642-4166643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562889264	chr11:4166677-4166678	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74051925	chr11:4166686-4166687	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551828011	chr11:4166691-4166692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140758211	chr11:4166705-4166706	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534354273	chr11:4166728-4166729	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370338654	chr11:4166737-4166738	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549707334	chr11:4166858-4166859	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567910633	chr11:4166862-4166863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538529352	chr11:4166880-4166881	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367925101	chr11:4166930-4166931	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192863965	chr11:4166944-4166945	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566483252	chr11:4166945-4166946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10500594	chr11:4166986-4166987	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs184858164	chr11:4167103-4167104	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571927038	chr11:4167225-4167226	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187732792	chr11:4167237-4167238	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199798411	chr11:4167304-4167305	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192355088	chr11:4167393-4167394	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10835678	chr11:4167416-4167417	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10835679	chr11:4167432-4167433	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150461227	chr11:4167434-4167435	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114292004	chr11:4167446-4167447	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571549345	chr11:4167489-4167490	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11031123	chr11:4167493-4167494	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs549645853	chr11:4167495-4167496	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115838743	chr11:4167513-4167514	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116251958	chr11:4167577-4167578	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550429046	chr11:4167600-4167601	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10742246	chr11:4167604-4167605	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs184731280	chr11:4167674-4167675	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12290431	chr11:4167726-4167727	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs527255615	chr11:4167739-4167740	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553462622	chr11:4167792-4167793	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565392796	chr11:4167793-4167794	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs535930684	chr11:4167814-4167815	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs56167232	chr11:4167846-4167847	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs10767857	chr11:4167889-4167890	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs10742247	chr11:4167903-4167904	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs189452347	chr11:4167976-4167977	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535218790	chr11:4167989-4167990	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7126014	chr11:4167997-4167998	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs10767858	chr11:4168029-4168030	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs7115496	chr11:4168046-4168047	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs527827843	chr11:4168090-4168091	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182052026	chr11:4168101-4168102	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561352060	chr11:4168128-4168129	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7115615	chr11:4168140-4168141	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184472398	chr11:4168143-4168144	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540115942	chr11:4168159-4168160	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
2	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:4160000-4169200	Weak transcription	NHLF	lung
4	chr11:4160000-4172200	Weak transcription	NHEK	skin
5	chr11:4161200-4166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:4161400-4169400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:4161600-4179600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:4161800-4166800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:4162400-4167400	Weak transcription	Esophagus	oesophagus
10	chr11:4162400-4167400	Weak transcription	Fetal Stomach	stomach
11	chr11:4162400-4167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:4162400-4168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:4162400-4168200	Weak transcription	Fetal Kidney	kidney
14	chr11:4162400-4169400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:4162400-4172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:4162600-4167200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:4162600-4167200	Weak transcription	HMEC	breast
18	chr11:4162600-4167800	Weak transcription	Spleen	Spleen
19	chr11:4163000-4173000	Weak transcription	Psoas Muscle	Psoas
20	chr11:4163200-4167000	Weak transcription	Adipose Nuclei	Adipose
21	chr11:4163200-4167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:4163200-4168600	Weak transcription	Fetal Brain Male	brain
23	chr11:4163200-4170800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:4163400-4166800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:4163400-4167200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:4163400-4169200	Weak transcription	Aorta	Aorta
27	chr11:4163400-4169200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:4163400-4173000	Weak transcription	HSMM	muscle
29	chr11:4163600-4168600	Weak transcription	Brain Angular Gyrus	brain
30	chr11:4163600-4168600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:4163800-4167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:4163800-4167400	Weak transcription	Fetal Intestine Large	intestine
33	chr11:4163800-4167600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:4163800-4169200	Weak transcription	Left Ventricle	heart
35	chr11:4164800-4166800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:4164800-4169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:4165000-4166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:4165000-4168800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:4165000-4168800	Weak transcription	GM12878-XiMat	blood
40	chr11:4165000-4169000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:4165200-4166800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:4165200-4168000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:4165200-4172200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:4165400-4169200	Weak transcription	Dnd41	blood
45	chr11:4165600-4167000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:4165600-4167000	Enhancers	K562	blood
47	chr11:4165600-4169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:4165800-4167000	Weak transcription	Thymus	Thymus
49	chr11:4165800-4167400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:4165800-4169400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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