Variant report

Variant	esv15047
Chromosome Location	chr11:75557315-75558660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75549918..75552133-chr11:75553631..75557803,4	K562	blood:
2	chr11:75551626..75554500-chr11:75554574..75557568,3	MCF-7	breast:
3	chr11:75528469..75531370-chr11:75554920..75558717,3	MCF-7	breast:
4	chr11:75523255..75528239-chr11:75549898..75558151,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255507	chromatin interactions
ENSG00000198382	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546026135	chr11:75557338-75557339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs113233931	chr11:75557348-75557349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372362173	chr11:75557349-75557350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10691809	chr11:75557351-75557352	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188898414	chr11:75557380-75557381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs7121639	chr11:75557383-75557384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7107742	chr11:75557410-75557411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191784182	chr11:75557465-75557466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183305546	chr11:75557514-75557515	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34422650	chr11:75557528-75557529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs547655738	chr11:75557536-75557537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564443689	chr11:75557553-75557554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs7122695	chr11:75557554-75557555	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548522930	chr11:75557567-75557568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550339238	chr11:75557587-75557588	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570201873	chr11:75557639-75557640	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535923474	chr11:75557655-75557656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150994152	chr11:75557667-75557668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566031515	chr11:75557700-75557701	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535041900	chr11:75557709-75557710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140861698	chr11:75557723-75557724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs146163877	chr11:75557729-75557730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539786611	chr11:75557739-75557740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138268004	chr11:75557748-75557749	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs73491729	chr11:75557787-75557788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35192131	chr11:75557809-75557810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs541871985	chr11:75557811-75557812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530607047	chr11:75557901-75557902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115222326	chr11:75557907-75557908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117777635	chr11:75557918-75557919	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540634779	chr11:75557958-75557959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188752163	chr11:75557978-75557979	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560849634	chr11:75558002-75558003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs142351320	chr11:75558025-75558026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs367988418	chr11:75558062-75558063	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs570500203	chr11:75558114-75558115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111597117	chr11:75558121-75558122	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529480119	chr11:75558159-75558160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112035215	chr11:75558160-75558161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112493141	chr11:75558165-75558166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528456889	chr11:75558242-75558243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191494826	chr11:75558329-75558330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571717700	chr11:75558339-75558340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112383024	chr11:75558361-75558362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539702275	chr11:75558400-75558401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556198777	chr11:75558423-75558424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184023517	chr11:75558460-75558461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186622986	chr11:75558465-75558466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74894660	chr11:75558473-75558474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573778358	chr11:75558523-75558524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Usher syndrome	18421352	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75528400-75561600	Weak transcription	HSMM	muscle
2	chr11:75528400-75561800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:75528600-75561400	Weak transcription	Fetal Brain Female	brain
4	chr11:75528600-75561400	Weak transcription	Thymus	Thymus
5	chr11:75528600-75563600	Weak transcription	Dnd41	blood
6	chr11:75535400-75560800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
8	chr11:75535800-75573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:75538000-75563000	Weak transcription	HepG2	liver
10	chr11:75538600-75567600	Weak transcription	Placenta	Placenta
11	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:75540200-75561000	Weak transcription	Lung	lung
13	chr11:75542800-75561800	Weak transcription	Fetal Thymus	thymus
14	chr11:75543800-75561200	Weak transcription	Spleen	Spleen
15	chr11:75543800-75561400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:75544000-75584000	Weak transcription	Small Intestine	intestine
17	chr11:75547400-75566400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:75547800-75561000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:75547800-75561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:75547800-75563400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr11:75548000-75562600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:75548200-75561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:75549800-75561800	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:75550000-75561200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:75550000-75561200	Weak transcription	K562	blood
28	chr11:75550200-75560800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:75550200-75564000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:75550200-75564000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:75550200-75564000	Weak transcription	Fetal Stomach	stomach
32	chr11:75551000-75562000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:75551600-75560600	Weak transcription	Primary B cells from cord blood	blood
34	chr11:75551600-75563400	Weak transcription	NHEK	skin
35	chr11:75551800-75557400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:75551800-75561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:75551800-75564600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:75551800-75569000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:75552000-75559600	Weak transcription	Hela-S3	cervix
40	chr11:75552000-75561800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:75552000-75580000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:75552200-75561200	Weak transcription	HUVEC	blood vessel
43	chr11:75552400-75561400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:75553000-75561200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:75553200-75560000	Weak transcription	Pancreas	Pancrea
46	chr11:75553200-75561800	Weak transcription	Fetal Lung	lung
47	chr11:75553200-75561800	Weak transcription	Stomach Mucosa	stomach
48	chr11:75553200-75564400	Weak transcription	Gastric	stomach
49	chr11:75553400-75561000	Weak transcription	Right Ventricle	heart
50	chr11:75553400-75561400	Weak transcription	Psoas Muscle	Psoas

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