Variant report

Variant	nsv534050
Chromosome Location	chr11:67377880-67378488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67378289-67378314	K562	blood:	n/a	n/a
2	POLR2A	chr11:67378209-67378676	K562	blood:	n/a	n/a
3	POLR2A	chr11:67377950-67378251	K562	blood:	n/a	n/a
4	POLR2A	chr11:67377783-67378606	K562	blood:	n/a	n/a
5	POLR2A	chr11:67378273-67379227	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67378359-67383489	K562	blood:	n/a	n/a
7	POLR2A	chr11:67378152-67378823	K562	blood:	n/a	n/a
8	POLR2A	chr11:67378104-67382420	K562	blood:	n/a	n/a
9	POLR2A	chr11:67377725-67383572	K562	blood:	n/a	n/a
10	POLR2A	chr11:67378253-67378264	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
2	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
3	chr11:67373358..67378331-chr11:67393882..67398214,7	MCF-7	breast:
4	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:

No data

Variant related genes	Relation type
NDUFV1	TF binding region
C11orf72	TF binding region
ENSG00000255318	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000167799	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10896187	chr11:67377890-67377891	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142982022	chr11:67377904-67377905	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs199988306	chr11:67377924-67377925	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs377455367	chr11:67377925-67377926	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs201289242	chr11:67377936-67377937	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs568068157	chr11:67377937-67377938	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs151104852	chr11:67377938-67377939	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs368139042	chr11:67377974-67377975	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs121913661	chr11:67377981-67377982	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs138583785	chr11:67378011-67378012	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs553712971	chr11:67378031-67378032	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs144090187	chr11:67378037-67378038	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs200417926	chr11:67378053-67378054	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs374966665	chr11:67378059-67378060	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs185768908	chr11:67378071-67378072	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs375031063	chr11:67378088-67378089	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs140936568	chr11:67378089-67378090	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs371312746	chr11:67378126-67378127	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs561801772	chr11:67378141-67378142	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs565005095	chr11:67378144-67378145	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs529175592	chr11:67378191-67378192	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs541091396	chr11:67378224-67378225	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs559693541	chr11:67378228-67378229	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs3016861	chr11:67378229-67378230	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551419960	chr11:67378231-67378232	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569918051	chr11:67378232-67378233	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs190726589	chr11:67378237-67378238	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs549666602	chr11:67378303-67378304	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs2509729	chr11:67378368-67378369	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs567899132	chr11:67378405-67378406	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs368561335	chr11:67378427-67378428	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs199689764	chr11:67378429-67378430	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs553528808	chr11:67378437-67378438	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs371709474	chr11:67378446-67378447	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs1127436	chr11:67378470-67378471	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67375200-67383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67375400-67378000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:67375400-67381000	Weak transcription	NHDF-Ad	bronchial
4	chr11:67375400-67381200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:67375400-67381400	Weak transcription	NH-A	brain
6	chr11:67375400-67381600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:67375400-67383000	Weak transcription	HUVEC	blood vessel
8	chr11:67375600-67379600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:67375600-67380400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:67375600-67380800	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:67375600-67380800	Weak transcription	Stomach Mucosa	stomach
12	chr11:67375600-67381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:67375800-67378600	Strong transcription	Osteobl	bone
14	chr11:67375800-67379000	Strong transcription	HSMMtube	muscle
15	chr11:67375800-67380200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:67375800-67380200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:67375800-67380400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:67375800-67380400	Strong transcription	Primary T cells from cord blood	blood
19	chr11:67375800-67380400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:67375800-67380600	Strong transcription	Placenta	Placenta
21	chr11:67375800-67380800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:67375800-67380800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:67375800-67381000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:67375800-67381000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:67375800-67381000	Strong transcription	NHEK	skin
26	chr11:67375800-67381200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:67375800-67381200	Strong transcription	Fetal Stomach	stomach
28	chr11:67375800-67381200	Strong transcription	NHLF	lung
29	chr11:67375800-67381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:67375800-67381600	Strong transcription	Fetal Brain Female	brain
31	chr11:67376000-67378400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:67376000-67379000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:67376000-67379000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:67376000-67379200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:67376000-67379400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:67376000-67379600	Strong transcription	HepG2	liver
37	chr11:67376000-67380200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:67376000-67380200	Strong transcription	Colon Smooth Muscle	Colon
39	chr11:67376000-67380200	Strong transcription	Ovary	ovary
40	chr11:67376000-67380200	Strong transcription	A549	lung
41	chr11:67376000-67380400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:67376000-67380400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:67376000-67380400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:67376000-67380400	Strong transcription	Left Ventricle	heart
45	chr11:67376000-67380600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:67376000-67380600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:67376000-67380600	Strong transcription	Lung	lung
48	chr11:67376000-67380600	Strong transcription	Spleen	Spleen
49	chr11:67376000-67380800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:67376000-67380800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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