Variant report

Variant	esv3428878
Chromosome Location	chr11:73736186-73737649
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	chr11:73724598..73727385-chr11:73734984..73736826,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142448707	chr11:73736221-73736222	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539156312	chr11:73736222-73736223	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555692953	chr11:73736252-73736253	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373363521	chr11:73736264-73736265	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569630907	chr11:73736286-73736287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535141808	chr11:73736289-73736290	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555617904	chr11:73736298-73736299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572276847	chr11:73736337-73736338	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541198282	chr11:73736341-73736342	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558000416	chr11:73736380-73736381	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578115618	chr11:73736381-73736382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543940335	chr11:73736414-73736415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147947493	chr11:73736418-73736419	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529278977	chr11:73736427-73736428	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370617748	chr11:73736434-73736435	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542691415	chr11:73736479-73736480	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559975673	chr11:73736502-73736503	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528782841	chr11:73736505-73736506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184728826	chr11:73736512-73736513	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75792140	chr11:73736513-73736514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1726756	chr11:73736592-73736593	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549456560	chr11:73736597-73736598	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188411091	chr11:73736633-73736634	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116102164	chr11:73736665-73736666	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12291461	chr11:73736688-73736689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565933259	chr11:73736741-73736742	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147076150	chr11:73736747-73736748	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192236861	chr11:73736751-73736752	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77930432	chr11:73736770-73736771	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1726755	chr11:73736801-73736802	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147696335	chr11:73736815-73736816	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12286971	chr11:73736875-73736876	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542981314	chr11:73736879-73736880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576259975	chr11:73736899-73736900	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559495130	chr11:73736912-73736913	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573153757	chr11:73736942-73736943	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140985605	chr11:73736983-73736984	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115963362	chr11:73737057-73737058	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530990758	chr11:73737088-73737089	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550918506	chr11:73737101-73737102	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183694642	chr11:73737113-73737114	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372659755	chr11:73737125-73737126	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189198087	chr11:73737184-73737185	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528992891	chr11:73737185-73737186	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149645288	chr11:73737189-73737190	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548924481	chr11:73737218-73737219	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181905632	chr11:73737232-73737233	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184175336	chr11:73737245-73737246	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150205837	chr11:73737246-73737247	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559921460	chr11:73737268-73737269	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	17142309	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
2	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
3	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:73724800-73746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73725200-73736400	Weak transcription	NHEK	skin
12	chr11:73725400-73740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:73728000-73741200	Weak transcription	Aorta	Aorta
14	chr11:73728000-73755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:73728400-73738400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:73728600-73738600	Weak transcription	Dnd41	blood
17	chr11:73728800-73736800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:73729000-73742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:73729200-73736600	Weak transcription	A549	lung
20	chr11:73729200-73740000	Weak transcription	Fetal Lung	lung
21	chr11:73730400-73737800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:73730400-73738400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:73730600-73736200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:73730600-73741400	Weak transcription	Hela-S3	cervix
25	chr11:73730600-73743400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:73730800-73742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:73730800-73745400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
29	chr11:73731000-73742600	Weak transcription	Esophagus	oesophagus
30	chr11:73731200-73736600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:73731200-73736800	Weak transcription	Ovary	ovary
32	chr11:73731200-73743800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:73731200-73744800	Weak transcription	HepG2	liver
34	chr11:73731400-73736400	Weak transcription	Thymus	Thymus
35	chr11:73731400-73736800	Weak transcription	Lung	lung
36	chr11:73731400-73739000	Weak transcription	Pancreas	Pancrea
37	chr11:73731400-73741400	Weak transcription	Brain Angular Gyrus	brain
38	chr11:73731400-73741400	Weak transcription	Gastric	stomach
39	chr11:73731400-73743800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:73731400-73744000	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:73731400-73750800	Strong transcription	Fetal Muscle Leg	muscle
42	chr11:73731600-73736600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:73731600-73736600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:73731600-73736800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:73731800-73736600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:73731800-73736600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:73731800-73736600	Weak transcription	Spleen	Spleen
48	chr11:73731800-73736800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:73731800-73738600	Weak transcription	Right Atrium	heart
50	chr11:73731800-73740000	Weak transcription	Right Ventricle	heart

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