Variant report

Variant	esv3424689
Chromosome Location	chr11:73254954-73257102
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	chr11:73253567..73255579-chr11:73268685..73271411,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553609978	chr11:73254958-73254959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111840741	chr11:73254995-73254996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558402727	chr11:73255057-73255058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146372002	chr11:73255076-73255077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543790137	chr11:73255080-73255081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36066388	chr11:73255081-73255082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138433025	chr11:73255115-73255116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142920077	chr11:73255124-73255125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189119515	chr11:73255194-73255195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548858003	chr11:73255239-73255240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181506747	chr11:73255328-73255329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527397582	chr11:73255438-73255439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540799316	chr11:73255442-73255443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563967689	chr11:73255471-73255472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11235797	chr11:73255474-73255475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149104278	chr11:73255499-73255500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536369969	chr11:73255616-73255617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533239496	chr11:73255703-73255704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549846379	chr11:73255708-73255709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570029902	chr11:73255715-73255716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529226639	chr11:73255737-73255738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185705381	chr11:73255744-73255745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189333784	chr11:73255773-73255774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558941987	chr11:73255815-73255816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55656986	chr11:73255843-73255844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56400647	chr11:73255882-73255883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56727433	chr11:73255890-73255891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55701062	chr11:73255905-73255906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57809281	chr11:73255915-73255916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1277902	chr11:73255925-73255926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58448895	chr11:73255930-73255931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1277901	chr11:73255960-73255961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55720978	chr11:73255974-73255975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55935406	chr11:73255976-73255977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60951349	chr11:73255985-73255986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57736444	chr11:73255987-73255988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566144757	chr11:73256009-73256010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535145921	chr11:73256010-73256011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58223215	chr11:73256018-73256019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60967756	chr11:73256023-73256024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11235798	chr11:73256028-73256029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57881386	chr11:73256029-73256030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11235799	chr11:73256030-73256031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56163815	chr11:73256039-73256040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57341842	chr11:73256053-73256054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376137403	chr11:73256060-73256061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370917955	chr11:73256064-73256065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373667962	chr11:73256066-73256067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55940740	chr11:73256070-73256071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376710849	chr11:73256071-73256072	Weak transcription	n/a	n/a	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
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	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
Lung cancer	18438408	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
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
3	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:73246200-73256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:73249600-73266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:73249600-73266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:73249800-73262600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:73250000-73255000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:73250000-73255200	Weak transcription	HSMM	muscle
11	chr11:73250000-73261800	Weak transcription	Brain Substantia Nigra	brain
12	chr11:73250000-73262200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73250000-73262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:73250000-73262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:73250000-73262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:73250000-73265800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:73250200-73266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:73250800-73262200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:73250800-73265800	Weak transcription	Right Atrium	heart
22	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:73251000-73255200	Weak transcription	GM12878-XiMat	blood
24	chr11:73251000-73265600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
26	chr11:73251200-73258600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:73251200-73263000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:73251600-73255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:73251600-73262200	Weak transcription	Right Ventricle	heart
30	chr11:73251600-73262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:73251600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:73252000-73258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:73252000-73261200	Weak transcription	Dnd41	blood
34	chr11:73252200-73256800	Weak transcription	Left Ventricle	heart
35	chr11:73253600-73265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:73253800-73262000	Weak transcription	Brain Angular Gyrus	brain
37	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:73254000-73255600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:73254000-73256200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:73254000-73262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:73254400-73256800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:73254400-73258000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:73255200-73255400	ZNF genes & repeats	GM12878-XiMat	blood
44	chr11:73255400-73255600	Enhancers	Rectal Smooth Muscle	rectum
45	chr11:73255400-73258200	Weak transcription	GM12878-XiMat	blood
46	chr11:73255600-73259400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:73256200-73260000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:73256400-73256600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:73256800-73257600	Enhancers	Left Ventricle	heart
50	chr11:73256800-73258200	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links