Variant report

Variant	esv3332318
Chromosome Location	chr11:76310904-76312952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76309431..76311546-chr11:76315205..76316981,3	K562	blood:
2	chr11:76309441..76311518-chr11:76311642..76314549,3	K562	blood:
3	chr11:76309441..76311518-chr11:76311642..76314549,3	K562	blood:
4	chr11:76310504..76312351-chr11:76321930..76323768,2	K562	blood:
5	chr11:76301219..76303049-chr11:76308621..76311229,3	K562	blood:
6	chr11:76309744..76311546-chr11:76315205..76316740,2	K562	blood:
7	chr11:76312055..76314144-chr11:76316042..76318637,2	K562	blood:

Variant related genes	Relation type
ENSG00000254755	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72934337	chr11:76310951-76310952	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs527602431	chr11:76310952-76310953	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs4438063	chr11:76310976-76310977	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs560113122	chr11:76310989-76310990	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532411616	chr11:76311015-76311016	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552237399	chr11:76311033-76311034	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187102830	chr11:76311045-76311046	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531405810	chr11:76311084-76311085	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7110364	chr11:76311139-76311140	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548512900	chr11:76311172-76311173	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370509904	chr11:76311249-76311250	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534498576	chr11:76311300-76311301	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs78090132	chr11:76311301-76311302	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576895601	chr11:76311338-76311339	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs55778917	chr11:76311356-76311357	Enhancers Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553321644	chr11:76311400-76311401	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556199727	chr11:76311404-76311405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576073957	chr11:76311443-76311444	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371889463	chr11:76311456-76311457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544070891	chr11:76311469-76311470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115717011	chr11:76311492-76311493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs114129291	chr11:76311555-76311556	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565351734	chr11:76311598-76311599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs191136149	chr11:76311605-76311606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7124842	chr11:76311620-76311621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532349764	chr11:76311683-76311684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555012554	chr11:76311765-76311766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201156905	chr11:76311802-76311803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72002067	chr11:76311808-76311809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550624980	chr11:76311814-76311815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371974372	chr11:76311840-76311841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562965192	chr11:76311853-76311854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531720147	chr11:76311855-76311856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199534994	chr11:76311856-76311857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57630987	chr11:76311857-76311858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11236799	chr11:76311865-76311866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369024676	chr11:76311866-76311867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7111295	chr11:76311867-76311868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202173897	chr11:76311868-76311869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35290255	chr11:76311869-76311870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149082847	chr11:76311871-76311872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72021689	chr11:76311891-76311892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565662887	chr11:76311892-76311893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12223824	chr11:76311894-76311895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548714822	chr11:76311899-76311900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181584133	chr11:76311927-76311928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186350020	chr11:76311944-76311945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371894433	chr11:76311949-76311950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9645696	chr11:76311991-76311992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374744709	chr11:76312029-76312030	Weak transcription	n/a	n/a	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
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
Ovarian cancer	21240255	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76303200-76313600	Weak transcription	Gastric	stomach
2	chr11:76303200-76315600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:76303600-76315800	Weak transcription	Esophagus	oesophagus
4	chr11:76304200-76312600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:76304200-76313200	Weak transcription	Stomach Mucosa	stomach
6	chr11:76304400-76313400	Weak transcription	Colonic Mucosa	Colon
7	chr11:76304400-76315600	Weak transcription	Pancreas	Pancrea
8	chr11:76305000-76312800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:76307800-76311000	Enhancers	Fetal Muscle Trunk	muscle
10	chr11:76308800-76311000	Enhancers	Placenta	Placenta
11	chr11:76308800-76311400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:76309200-76311200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:76309200-76311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:76309400-76311000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:76309400-76311000	Enhancers	NHDF-Ad	bronchial
16	chr11:76309600-76311200	Enhancers	NH-A	brain
17	chr11:76309600-76313000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:76309600-76313200	Weak transcription	Left Ventricle	heart
19	chr11:76309800-76313400	Weak transcription	Fetal Thymus	thymus
20	chr11:76309800-76313400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:76310000-76311000	Enhancers	HSMM	muscle
22	chr11:76310200-76311200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:76310200-76312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:76310400-76311200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:76310400-76312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:76310400-76313400	Weak transcription	Fetal Lung	lung
27	chr11:76310400-76313400	Weak transcription	Right Ventricle	heart
28	chr11:76310400-76315600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:76310600-76311400	Enhancers	Lung	lung
30	chr11:76310600-76312800	Weak transcription	Fetal Heart	heart
31	chr11:76310600-76313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:76310600-76313200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:76310600-76313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:76310600-76313400	Weak transcription	Spleen	Spleen
35	chr11:76310600-76313600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:76310600-76320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:76310800-76311000	Enhancers	NHEK	skin
38	chr11:76310800-76311400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:76310800-76312600	Weak transcription	Fetal Stomach	stomach
40	chr11:76310800-76312600	Weak transcription	NHLF	lung
41	chr11:76310800-76312800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:76310800-76312800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:76310800-76313400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:76310800-76313400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:76310800-76313800	Weak transcription	Osteobl	bone
46	chr11:76311000-76312400	Weak transcription	Placenta	Placenta
47	chr11:76311000-76312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:76311000-76313000	Weak transcription	NHDF-Ad	bronchial
49	chr11:76311000-76313400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:76311000-76313600	Weak transcription	Small Intestine	intestine

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