Variant report

Variant	esv14454
Chromosome Location	chr11:76672837-76674867
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	chr11:76666896..76668570-chr11:76671083..76673989,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551868488	chr11:76672852-76672853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149161563	chr11:76672865-76672866	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560218927	chr11:76672893-76672894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531294402	chr11:76672959-76672960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547926505	chr11:76672964-76672965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567815569	chr11:76672981-76672982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55798841	chr11:76673122-76673123	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35358307	chr11:76673188-76673189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553947156	chr11:76673238-76673239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377657314	chr11:76673260-76673261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10646198	chr11:76673261-76673262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76588296	chr11:76673278-76673279	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78015048	chr11:76673279-76673280	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570626912	chr11:76673313-76673314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539747343	chr11:76673332-76673333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191610366	chr11:76673333-76673334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575756372	chr11:76673366-76673367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544622170	chr11:76673367-76673368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7128770	chr11:76673413-76673414	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12288973	chr11:76673426-76673427	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7115053	chr11:76673447-76673448	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560769120	chr11:76673453-76673454	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577453192	chr11:76673456-76673457	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183755266	chr11:76673465-76673466	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546518545	chr11:76673526-76673527	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201792656	chr11:76673535-76673536	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377631323	chr11:76673656-76673657	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562338789	chr11:76673658-76673659	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141506598	chr11:76673666-76673667	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs56129156	chr11:76673669-76673670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs373683229	chr11:76673672-76673673	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529199442	chr11:76673679-76673680	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7129147	chr11:76673691-76673692	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527405856	chr11:76673692-76673693	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547252343	chr11:76673723-76673724	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570659248	chr11:76673804-76673805	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190781872	chr11:76673816-76673817	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569037029	chr11:76673822-76673823	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533171021	chr11:76673836-76673837	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551449056	chr11:76673891-76673892	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539349852	chr11:76673920-76673921	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10793220	chr11:76673980-76673981	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569976768	chr11:76674030-76674031	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533766585	chr11:76674125-76674126	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs516367	chr11:76674164-76674165	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs117160912	chr11:76674166-76674167	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10899334	chr11:76674171-76674172	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554065130	chr11:76674175-76674176	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538123316	chr11:76674186-76674187	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546082998	chr11:76674228-76674229	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS 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
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
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76631400-76688400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:76645800-76683800	Weak transcription	Esophagus	oesophagus
3	chr11:76646600-76688000	Weak transcription	HMEC	breast
4	chr11:76647200-76673800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:76647200-76674800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:76650600-76681200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:76655800-76674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:76655800-76681800	Weak transcription	Primary B cells from cord blood	blood
9	chr11:76656200-76677000	Weak transcription	Brain Anterior Caudate	brain
10	chr11:76657000-76674600	Weak transcription	Fetal Stomach	stomach
11	chr11:76657000-76676600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:76657200-76688400	Weak transcription	Gastric	stomach
13	chr11:76659600-76673600	Weak transcription	Small Intestine	intestine
14	chr11:76659800-76673400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:76659800-76673600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:76660000-76710800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr11:76661200-76673800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:76661200-76674600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:76661800-76673400	Weak transcription	Pancreas	Pancrea
20	chr11:76662800-76673600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:76663000-76674600	Weak transcription	Liver	Liver
22	chr11:76664200-76673200	Weak transcription	Fetal Intestine Large	intestine
23	chr11:76665200-76673400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:76665800-76688400	Weak transcription	Right Ventricle	heart
25	chr11:76666800-76673600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:76666800-76677600	Weak transcription	Hela-S3	cervix
27	chr11:76666800-76695400	Weak transcription	NHEK	skin
28	chr11:76667400-76673800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:76667600-76673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:76667800-76673800	Weak transcription	Brain Angular Gyrus	brain
31	chr11:76667800-76674400	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:76668400-76673400	Weak transcription	Dnd41	blood
33	chr11:76668600-76673400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:76668600-76673600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:76668800-76673600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:76668800-76674000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:76669000-76675200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:76669600-76673200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:76669600-76673800	Weak transcription	Colonic Mucosa	Colon
40	chr11:76669600-76674200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:76670000-76673200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:76670000-76673800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:76670000-76674400	Weak transcription	A549	lung
44	chr11:76670200-76673600	Weak transcription	GM12878-XiMat	blood
45	chr11:76670200-76675200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:76670400-76673400	Weak transcription	Stomach Mucosa	stomach
47	chr11:76670400-76673800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:76670600-76674000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:76671200-76673600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:76671200-76673600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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