Variant report

Variant	esv993847
Chromosome Location	chr11:75176894-75187181
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
2	chr1:175162095..175162596-chr11:75186249..75186749,2	NB4	blood:
3	chr11:75187049..75188638-chr11:75235705..75238592,2	K562	blood:
4	chr11:75177141..75179157-chr11:75184884..75186837,2	K562	blood:
5	chr11:75177141..75179157-chr11:75184884..75186837,2	K562	blood:
6	chr11:75185179..75187092-chr11:75248204..75250033,2	K562	blood:
7	chr11:75109872..75112643-chr11:75176683..75178600,2	K562	blood:
8	chr11:75185809..75187737-chr11:75194465..75195996,2	K562	blood:
9	chr11:75109644..75112014-chr11:75177550..75180122,2	MCF-7	breast:
10	chr11:75184591..75187071-chr11:75200307..75202910,2	MCF-7	breast:
11	chr11:75179585..75185021-chr11:75186117..75188825,5	K562	blood:
12	chr11:75109241..75111992-chr11:75179238..75181170,2	K562	blood:
13	chr11:75184064..75186099-chr11:75244472..75246360,2	K562	blood:
14	chr11:75173375..75176105-chr11:75178046..75180921,2	MCF-7	breast:
15	chr11:75186128..75188167-chr11:75208590..75210780,2	MCF-7	breast:
16	chr11:75182448..75185750-chr11:75189999..75193273,3	K562	blood:
17	chr11:75186423..75188493-chr11:75202325..75205145,2	K562	blood:
18	chr11:75147801..75150330-chr11:75177765..75179676,2	K562	blood:
19	chr11:75186653..75188818-chr11:75244939..75247061,2	K562	blood:
20	chr11:75185137..75187494-chr11:75526962..75529134,2	K562	blood:
21	chr11:75186137..75188818-chr11:75245561..75247908,2	K562	blood:
22	chr11:75112364..75115138-chr11:75178491..75181185,2	K562	blood:
23	chr11:75172761..75175678-chr11:75175909..75177815,2	MCF-7	breast:
24	chr11:75171275..75173319-chr11:75174538..75177396,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149273	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000158555	chromatin interactions
ENSG00000235750	chromatin interactions

Extended variants
information (count: 345 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146589859	chr11:75176899-75176900	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs542890646	chr11:75176934-75176935	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529427720	chr11:75176947-75176948	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371071101	chr11:75177006-75177007	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549269275	chr11:75177058-75177059	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73494876	chr11:75177146-75177147	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374138782	chr11:75177168-75177169	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs141349531	chr11:75177183-75177184	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571288080	chr11:75177184-75177185	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12418742	chr11:75177195-75177196	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77111590	chr11:75177288-75177289	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577391306	chr11:75177289-75177290	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143833442	chr11:75177308-75177309	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541629608	chr11:75177339-75177340	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555712122	chr11:75177375-75177376	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374661786	chr11:75177391-75177392	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs7107598	chr11:75177399-75177400	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs151316761	chr11:75177401-75177402	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564115438	chr11:75177411-75177412	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532779957	chr11:75177426-75177427	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544366713	chr11:75177433-75177434	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561270355	chr11:75177480-75177481	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530321642	chr11:75177506-75177507	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs563190584	chr11:75177525-75177526	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529512911	chr11:75177557-75177558	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs115259220	chr11:75177574-75177575	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs565921807	chr11:75177610-75177611	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188739421	chr11:75177611-75177612	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551657424	chr11:75177665-75177666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs571656903	chr11:75177674-75177675	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs541867582	chr11:75177711-75177712	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs180704492	chr11:75177760-75177761	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557448306	chr11:75177768-75177769	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185329032	chr11:75177780-75177781	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536728621	chr11:75177786-75177787	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555628615	chr11:75177787-75177788	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs367785322	chr11:75177798-75177799	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs572264505	chr11:75177804-75177805	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541377274	chr11:75177805-75177806	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs558045431	chr11:75177806-75177807	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs370318502	chr11:75177809-75177810	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs113460707	chr11:75177839-75177840	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs530945853	chr11:75177855-75177856	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs368595862	chr11:75177863-75177864	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs543022870	chr11:75177952-75177953	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs563412875	chr11:75177969-75177970	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs546585825	chr11:75177978-75177979	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs150284238	chr11:75178009-75178010	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs542295676	chr11:75178019-75178020	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs137914501	chr11:75178023-75178024	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Melanoma	18172304	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
lymphocytic leukemia	21291569	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
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75144200-75186600	Weak transcription	Gastric	stomach
2	chr11:75144400-75179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:75145200-75186200	Weak transcription	Primary T cells from cord blood	blood
4	chr11:75145200-75186400	Strong transcription	Fetal Intestine Small	intestine
5	chr11:75147800-75186000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:75148200-75186000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:75162800-75185000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:75163800-75186200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr11:75165200-75187000	Strong transcription	HepG2	liver
10	chr11:75165800-75178000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:75166400-75178200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:75166600-75186800	Weak transcription	Pancreas	Pancrea
13	chr11:75167400-75180400	Weak transcription	Aorta	Aorta
14	chr11:75168200-75177200	Weak transcription	Fetal Stomach	stomach
15	chr11:75168400-75183400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:75169200-75177400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:75172000-75184400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr11:75172200-75184400	Enhancers	Spleen	Spleen
19	chr11:75172400-75179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:75172400-75183200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:75172600-75180400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75173000-75181200	Enhancers	HUVEC	blood vessel
23	chr11:75173400-75185000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:75173600-75185800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:75174200-75179400	Weak transcription	Liver	Liver
26	chr11:75174200-75180000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:75174400-75177000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:75174400-75177400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:75174600-75177000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:75174600-75177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:75174600-75179200	Weak transcription	Ovary	ovary
32	chr11:75174600-75186600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:75174800-75179200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:75175000-75177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:75175000-75177000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:75175000-75179800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:75175200-75177000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:75175200-75177000	Weak transcription	Adipose Nuclei	Adipose
39	chr11:75175200-75177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:75175400-75177000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:75175400-75177800	Weak transcription	Fetal Intestine Large	intestine
42	chr11:75175600-75184000	Enhancers	Fetal Muscle Leg	muscle
43	chr11:75176200-75177800	Enhancers	Fetal Heart	heart
44	chr11:75176200-75181000	Genic enhancers	Placenta	Placenta
45	chr11:75176200-75184600	Enhancers	HSMMtube	muscle
46	chr11:75176600-75177400	Enhancers	Fetal Muscle Trunk	muscle
47	chr11:75176600-75177800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:75176600-75178000	Enhancers	Fetal Lung	lung
49	chr11:75176600-75178600	Enhancers	Right Ventricle	heart
50	chr11:75176600-75180600	Enhancers	Lung	lung

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