Variant report

Variant	nsv515552
Chromosome Location	chr11:10226268-10228809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10228277..10231249-chr11:10328543..10331201,2	MCF-7	breast:
2	chr11:10226516..10229103-chr11:10229118..10231466,3	MCF-7	breast:
3	chr11:10228223..10229821-chr11:10315025..10316568,2	MCF-7	breast:
4	chr11:10225918..10228486-chr11:10324033..10325945,2	MCF-7	breast:
5	chr11:10228745..10232588-chr11:10322997..10326616,6	MCF-7	breast:
6	chr11:10227014..10228870-chr11:10386230..10387904,2	K562	blood:
7	chr11:10227925..10230421-chr11:10313078..10316314,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133805	chromatin interactions
ENSG00000133812	chromatin interactions
ENSG00000148926	chromatin interactions
ENSG00000254554	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2119991	chr11:10226268-10226269	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557091396	chr11:10226307-10226308	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577151358	chr11:10226318-10226319	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545663781	chr11:10226338-10226339	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559628640	chr11:10226360-10226361	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532963699	chr11:10226366-10226367	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528397533	chr11:10226379-10226380	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189119044	chr11:10226395-10226396	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546683307	chr11:10226397-10226398	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566580877	chr11:10226411-10226412	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73415093	chr11:10226417-10226418	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151019469	chr11:10226420-10226421	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs375870645	chr11:10226427-10226428	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs367862356	chr11:10226479-10226480	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569803900	chr11:10226485-10226486	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147834709	chr11:10226543-10226544	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552470372	chr11:10226544-10226545	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566232083	chr11:10226552-10226553	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555246694	chr11:10226555-10226556	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535019584	chr11:10226566-10226567	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555257142	chr11:10226569-10226570	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528409964	chr11:10226598-10226599	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141421954	chr11:10226607-10226608	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560292985	chr11:10226640-10226641	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114039220	chr11:10226657-10226658	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185313358	chr11:10226738-10226739	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139792158	chr11:10226740-10226741	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76266926	chr11:10226754-10226755	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147017202	chr11:10226769-10226770	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552907088	chr11:10226805-10226806	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577131125	chr11:10226819-10226820	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572951477	chr11:10226842-10226843	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541760592	chr11:10226936-10226937	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190120271	chr11:10226949-10226950	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574531491	chr11:10226961-10226962	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs115528611	chr11:10226983-10226984	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563467338	chr11:10227010-10227011	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532516685	chr11:10227031-10227032	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs72861773	chr11:10227051-10227052	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559696424	chr11:10227054-10227055	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192219383	chr11:10227122-10227123	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548941595	chr11:10227182-10227183	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568756231	chr11:10227197-10227198	Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537071829	chr11:10227315-10227316	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375025257	chr11:10227343-10227344	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11042666	chr11:10227393-10227394	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs570393303	chr11:10227398-10227399	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373195455	chr11:10227439-10227440	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539167352	chr11:10227451-10227452	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552985775	chr11:10227483-10227484	Flanking Active TSS Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10208000-10229000	Weak transcription	Aorta	Aorta
2	chr11:10208800-10229400	Weak transcription	NHLF	lung
3	chr11:10219000-10242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:10219800-10226400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:10221600-10227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:10223400-10226400	Weak transcription	Left Ventricle	heart
7	chr11:10223800-10229600	Weak transcription	Osteobl	bone
8	chr11:10224600-10226600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr11:10224800-10227200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:10225000-10226800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:10225000-10227000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:10225400-10227400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:10225600-10228400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:10226000-10227400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:10226200-10227000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:10226200-10227400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:10226400-10227400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:10226400-10227800	Enhancers	Left Ventricle	heart
19	chr11:10226600-10226800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:10226800-10227000	Weak transcription	Ovary	ovary
21	chr11:10226800-10227200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr11:10226800-10227600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:10226800-10230000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:10227000-10227200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:10227000-10227200	Enhancers	Ovary	ovary
26	chr11:10227000-10227600	Enhancers	Right Atrium	heart
27	chr11:10227000-10227800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:10227000-10227800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:10227000-10227800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:10227000-10227800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:10227000-10230200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:10227000-10230200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:10227000-10230400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr11:10227200-10227400	Enhancers	Psoas Muscle	Psoas
35	chr11:10227200-10227600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:10227200-10227600	Enhancers	Right Ventricle	heart
37	chr11:10227200-10227800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr11:10227200-10227800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:10227200-10227800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:10227200-10227800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:10227200-10227800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:10227200-10227800	Enhancers	Esophagus	oesophagus
43	chr11:10227200-10227800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr11:10227200-10228000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:10227200-10228000	Enhancers	NHDF-Ad	bronchial
46	chr11:10227200-10228200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr11:10227200-10229000	Weak transcription	Ovary	ovary
48	chr11:10227200-10229200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:10227200-10230200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:10227400-10227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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