Variant report

Variant	nsv555102
Chromosome Location	chr11:57144152-57145940
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	chr11:57145102..57148601-chr11:57153468..57156551,3	K562	blood:
2	chr11:57143729..57146654-chr11:57150520..57152214,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 53 )

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	rs1867126	chr11:57144152-57144153	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556839649	chr11:57144195-57144196	Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs188092839	chr11:57144292-57144293	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141251058	chr11:57144338-57144339	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150805361	chr11:57144347-57144348	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200605902	chr11:57144350-57144351	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577143930	chr11:57144354-57144355	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115707133	chr11:57144356-57144357	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149888825	chr11:57144367-57144368	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367943069	chr11:57144410-57144411	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372042972	chr11:57144412-57144413	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530321434	chr11:57144446-57144447	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576111460	chr11:57144465-57144466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563864151	chr11:57144486-57144487	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10896613	chr11:57144500-57144501	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552883227	chr11:57144516-57144517	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570462365	chr11:57144521-57144522	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528041363	chr11:57144562-57144563	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546696384	chr11:57144565-57144566	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77497912	chr11:57144578-57144579	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374338681	chr11:57144615-57144616	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568249202	chr11:57144657-57144658	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182550093	chr11:57144695-57144696	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550401010	chr11:57144711-57144712	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533942729	chr11:57144735-57144736	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2846392	chr11:57144812-57144813	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs2846393	chr11:57144828-57144829	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs367906020	chr11:57144886-57144887	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186824938	chr11:57144898-57144899	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12796816	chr11:57144905-57144906	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553443811	chr11:57144947-57144948	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574878073	chr11:57144976-57144977	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142857964	chr11:57144997-57144998	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2298485	chr11:57145001-57145002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191236145	chr11:57145018-57145019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148016647	chr11:57145026-57145027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546535792	chr11:57145044-57145045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564596326	chr11:57145064-57145065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528092385	chr11:57145108-57145109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546237775	chr11:57145109-57145110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561714177	chr11:57145169-57145170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201230268	chr11:57145229-57145230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115264983	chr11:57145232-57145233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199964780	chr11:57145234-57145235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539210279	chr11:57145286-57145287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139866329	chr11:57145296-57145297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201135712	chr11:57145297-57145298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368392720	chr11:57145313-57145314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113915170	chr11:57145326-57145327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534087240	chr11:57145338-57145339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57138800-57144200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:57142800-57144400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57143200-57144200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:57143600-57144600	Weak transcription	A549	lung
5	chr11:57144000-57144400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:57144000-57144400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:57144000-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:57144200-57144400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:57144200-57144400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:57144200-57144400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:57144200-57144400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:57144200-57144400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr11:57144200-57144600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:57144200-57144800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:57144200-57145200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:57144200-57146200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:57144400-57144600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:57144400-57144600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:57144400-57144600	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr11:57144400-57144800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:57144400-57144800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr11:57144600-57144800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr11:57144600-57144800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:57144600-57145800	Enhancers	A549	lung
25	chr11:57144800-57145000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr11:57144800-57154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57145000-57145800	Enhancers	HepG2	liver
28	chr11:57145000-57146200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:57145400-57145600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links