Variant report

Variant	nsv983207
Chromosome Location	chr11:74341085-74344366
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74339791..74343200-chr11:74343975..74347157,5	MCF-7	breast:
2	chr11:74330517..74332169-chr11:74341726..74344595,2	MCF-7	breast:
3	chr11:74340115..74342443-chr11:74346109..74347892,2	K562	blood:
4	chr11:74342208..74345546-chr11:74349117..74352195,3	K562	blood:
5	chr11:74333645..74336229-chr11:74343900..74348454,4	K562	blood:
6	chr11:74343993..74348455-chr11:74350438..74354140,4	K562	blood:
7	chr11:74342999..74345497-chr11:74347064..74349152,2	K562	blood:
8	chr11:74343839..74346032-chr11:74354471..74356643,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000077514	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191979397	chr11:74341155-74341156	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115255365	chr11:74341187-74341188	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577659991	chr11:74341204-74341205	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs565679048	chr11:74341230-74341231	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs11236178	chr11:74341336-74341337	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573990035	chr11:74341360-74341361	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs542906686	chr11:74341361-74341362	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs200388359	chr11:74341371-74341372	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs559608546	chr11:74341459-74341460	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs551426559	chr11:74341464-74341465	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs150854943	chr11:74341479-74341480	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs114181075	chr11:74341533-74341534	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs565275781	chr11:74341548-74341549	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs542815858	chr11:74341557-74341558	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs530987871	chr11:74341566-74341567	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs550571522	chr11:74341620-74341621	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77576883	chr11:74341637-74341638	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184355996	chr11:74341642-74341643	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546919400	chr11:74341650-74341651	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs386755027	chr11:74341710-74341711	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188397707	chr11:74341711-74341712	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71465929	chr11:74341712-74341713	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567848598	chr11:74341748-74341749	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139590984	chr11:74341778-74341779	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181176446	chr11:74341789-74341790	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147185042	chr11:74341830-74341831	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61903866	chr11:74341834-74341835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557009846	chr11:74341872-74341873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185573660	chr11:74341875-74341876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542622476	chr11:74341900-74341901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531539525	chr11:74341922-74341923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17133308	chr11:74341930-74341931	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573083236	chr11:74341932-74341933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556705481	chr11:74341939-74341940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116228011	chr11:74341969-74341970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189100809	chr11:74341978-74341979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530926699	chr11:74342011-74342012	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544272751	chr11:74342023-74342024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561027700	chr11:74342052-74342053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180959238	chr11:74342096-74342097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547416065	chr11:74342127-74342128	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35872300	chr11:74342223-74342224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546582625	chr11:74342296-74342297	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187066860	chr11:74342325-74342326	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11236179	chr11:74342353-74342354	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532791127	chr11:74342422-74342423	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192301881	chr11:74342492-74342493	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569397888	chr11:74342500-74342501	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370984057	chr11:74342522-74342523	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78181297	chr11:74342539-74342540	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304400-74345600	Weak transcription	Gastric	stomach
2	chr11:74304600-74345600	Weak transcription	Esophagus	oesophagus
3	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
6	chr11:74310200-74352400	Weak transcription	Fetal Brain Male	brain
7	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
8	chr11:74317200-74345600	Weak transcription	Pancreas	Pancrea
9	chr11:74317200-74352200	Weak transcription	Aorta	Aorta
10	chr11:74317400-74344200	Weak transcription	Small Intestine	intestine
11	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:74322200-74357400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:74323000-74342000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:74323000-74356800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:74324000-74345600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:74324200-74345600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:74324400-74346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:74324800-74344600	Weak transcription	NH-A	brain
20	chr11:74325000-74342200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:74325000-74345400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:74325000-74345600	Weak transcription	Spleen	Spleen
23	chr11:74325000-74346400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:74325000-74351600	Weak transcription	Right Ventricle	heart
25	chr11:74325200-74347000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:74325200-74351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:74325400-74345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:74325400-74346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:74325600-74350600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:74326000-74345200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:74328200-74341600	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:74328400-74345600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr11:74329800-74346400	Weak transcription	Fetal Intestine Small	intestine
34	chr11:74330000-74343400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:74330000-74345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:74330200-74342200	Weak transcription	NHEK	skin
37	chr11:74330200-74342600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:74330200-74345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:74330200-74346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:74330200-74351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:74331200-74345600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:74331400-74344200	Weak transcription	Placenta	Placenta
43	chr11:74331400-74346000	Weak transcription	HepG2	liver
44	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:74331600-74345600	Weak transcription	Liver	Liver
46	chr11:74331600-74346200	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:74331800-74345600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:74332200-74344200	Weak transcription	HSMMtube	muscle
49	chr11:74332200-74345800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:74332200-74348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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