Variant report

Variant	nsv897142
Chromosome Location	chr11:26786121-26903063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:26872205..26875117-chr11:26880752..26883354,2	K562	blood:
2	chr11:26887994..26889621-chr11:26891760..26893586,2	K562	blood:
3	chr11:26872205..26875117-chr11:26880752..26883354,2	K562	blood:
4	chr11:26888014..26890689-chr11:26892036..26894261,2	MCF-7	breast:
5	chr11:26887994..26889621-chr11:26891760..26893586,2	K562	blood:
6	chr11:26888014..26890689-chr11:26892036..26894261,2	MCF-7	breast:

Extended variants
information (count: 3440 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:3440 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7945103	chr11:26786121-26786122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12805726	chr11:26786135-26786136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181125114	chr11:26786191-26786192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369918987	chr11:26786192-26786193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565747869	chr11:26786211-26786212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576251130	chr11:26786218-26786219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543333991	chr11:26786219-26786220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571504486	chr11:26786248-26786249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74783930	chr11:26786259-26786260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377759238	chr11:26786261-26786262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76758576	chr11:26786264-26786265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115344220	chr11:26786277-26786278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571619448	chr11:26786340-26786341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371018715	chr11:26786347-26786348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186105788	chr11:26786476-26786477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562495181	chr11:26786483-26786484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574502732	chr11:26786488-26786489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537348772	chr11:26786498-26786499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146682960	chr11:26786502-26786503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570598236	chr11:26786519-26786520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73440503	chr11:26786559-26786560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553217764	chr11:26786585-26786586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189166887	chr11:26786597-26786598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117098102	chr11:26786644-26786645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7109850	chr11:26786693-26786694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546133957	chr11:26786724-26786725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564790080	chr11:26786749-26786750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113671624	chr11:26786809-26786810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367881444	chr11:26786827-26786828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540845237	chr11:26786876-26786877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562108177	chr11:26786887-26786888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529823747	chr11:26786888-26786889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35978079	chr11:26786932-26786933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548263938	chr11:26786940-26786941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2122454	chr11:26786970-26786971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs530511577	chr11:26786981-26786982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182518663	chr11:26786986-26786987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73440505	chr11:26786994-26786995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370524786	chr11:26787002-26787003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534584025	chr11:26787029-26787030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs137883007	chr11:26787057-26787058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567870336	chr11:26787073-26787074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200148152	chr11:26787079-26787080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557031840	chr11:26787082-26787083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7127849	chr11:26787091-26787092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149467079	chr11:26787111-26787112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537487515	chr11:26787218-26787219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557840314	chr11:26787235-26787236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187100212	chr11:26787311-26787312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555661395	chr11:26787315-26787316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26785600-26790200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:26786200-26787800	Enhancers	Liver	Liver
3	chr11:26786800-26787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:26787000-26787400	Enhancers	Adipose Nuclei	Adipose
5	chr11:26787600-26788400	Enhancers	Brain Angular Gyrus	brain
6	chr11:26788200-26788800	Enhancers	Brain Substantia Nigra	brain
7	chr11:26788200-26789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:26788400-26789000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:26789800-26791200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:26790000-26791000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:26790200-26790600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:26790200-26791000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:26790200-26791000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:26790200-26791000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:26790200-26791200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:26790200-26791200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr11:26790400-26790800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:26790800-26791000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:26791000-26799600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:26792000-26801400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:26798400-26799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:26798600-26798800	Enhancers	Colon Smooth Muscle	Colon
23	chr11:26798600-26799000	Enhancers	Brain Anterior Caudate	brain
24	chr11:26798600-26799000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:26798600-26799200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:26798600-26799200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:26798600-26799400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:26798600-26799400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr11:26798600-26799400	Enhancers	NHDF-Ad	bronchial
30	chr11:26798600-26799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:26798600-26799600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:26798600-26799600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:26798600-26799800	Enhancers	Fetal Stomach	stomach
34	chr11:26798600-26800200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:26798600-26800200	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:26798600-26801000	Enhancers	Fetal Kidney	kidney
37	chr11:26798600-26801800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:26798800-26799200	Flanking Active TSS	Colon Smooth Muscle	Colon
39	chr11:26798800-26799200	Enhancers	NHLF	lung
40	chr11:26798800-26799200	Enhancers	Osteobl	bone
41	chr11:26798800-26799400	Enhancers	Fetal Lung	lung
42	chr11:26798800-26799800	Enhancers	Adipose Nuclei	Adipose
43	chr11:26798800-26800400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:26799000-26800200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:26799200-26799600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:26799200-26799600	Active TSS	NHLF	lung
47	chr11:26799200-26799800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:26799200-26800200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:26799200-26800400	Enhancers	Colon Smooth Muscle	Colon
50	chr11:26799200-26800400	Flanking Active TSS	Osteobl	bone

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