Variant report

Variant	nsv818084
Chromosome Location	chr2:133283943-133308636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133304259..133305229-chr2:133647133..133647703,2	MCF-7	breast:
2	chr2:133304640..133305382-chr2:133928983..133929651,2	MCF-7	breast:
3	chr2:133304368..133305326-chr2:134601553..134602523,5	K562	blood:
4	chr2:133304762..133308062-chr2:133425978..133429369,3	MCF-7	breast:
5	chr2:133304876..133306446-chr2:133426520..133428307,2	MCF-7	breast:
6	chr2:133304353..133304857-chr2:134601593..134602264,2	MCF-7	breast:
7	chr2:133308087..133308889-chr2:133339718..133340292,2	MCF-7	breast:
8	chr2:133304031..133305145-chr2:133928594..133929580,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150551	chromatin interactions

Extended variants
information (count: 1056 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1056 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6710643	chr2:133283943-133283944	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190878568	chr2:133283967-133283968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs541911677	chr2:133284032-133284033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs563812963	chr2:133284051-133284052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs575846583	chr2:133284110-133284111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114425409	chr2:133284127-133284128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72983626	chr2:133284143-133284144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11687323	chr2:133284181-133284182	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528761495	chr2:133284227-133284228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs10928423	chr2:133284239-133284240	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114412394	chr2:133284254-133284255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115561715	chr2:133284268-133284269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550348893	chr2:133284273-133284274	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573506195	chr2:133284346-133284347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575029105	chr2:133284404-133284405	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs375371997	chr2:133284427-133284428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs539177150	chr2:133284441-133284442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4430996	chr2:133284464-133284465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566343055	chr2:133284469-133284470	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs533807276	chr2:133284478-133284479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs555636257	chr2:133284479-133284480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111361286	chr2:133284606-133284607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562066833	chr2:133284613-133284614	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535831398	chr2:133284634-133284635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370843124	chr2:133284664-133284665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191924886	chr2:133284674-133284675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs573996640	chr2:133284687-133284688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376221073	chr2:133284717-133284718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184483580	chr2:133284821-133284822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375065420	chr2:133284829-133284830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564642611	chr2:133284859-133284860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573479077	chr2:133284861-133284862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540531043	chr2:133284878-133284879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144353930	chr2:133284887-133284888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368662283	chr2:133284948-133284949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562873506	chr2:133284952-133284953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188784018	chr2:133285008-133285009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562375561	chr2:133285009-133285010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532826399	chr2:133285012-133285013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533541195	chr2:133285013-133285014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531146736	chr2:133285049-133285050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542167971	chr2:133285085-133285086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142109876	chr2:133285105-133285106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548945334	chr2:133285116-133285117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146336250	chr2:133285158-133285159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560682329	chr2:133285171-133285172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113498592	chr2:133285196-133285197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527950377	chr2:133285215-133285216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112657765	chr2:133285221-133285222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13006434	chr2:133285268-133285269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133282000-133284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:133282800-133284800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr2:133295600-133297400	Enhancers	Fetal Heart	heart
5	chr2:133295800-133296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:133295800-133296400	Enhancers	Placenta	Placenta
7	chr2:133295800-133296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:133295800-133297000	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr2:133296000-133296600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:133296000-133296800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:133296000-133299000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:133296400-133296600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr2:133296400-133296600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:133296600-133300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:133296600-133301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:133296800-133297400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:133297200-133298200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr2:133297400-133297600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:133297400-133301000	Weak transcription	Gastric	stomach
20	chr2:133297800-133298200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:133297800-133299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:133299000-133303400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:133299200-133302800	Enhancers	Placenta	Placenta
24	chr2:133299600-133300600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:133300200-133302000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:133300400-133301000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:133300400-133301000	Enhancers	A549	lung
28	chr2:133300400-133301200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:133300400-133301400	Enhancers	HMEC	breast
30	chr2:133300400-133301400	ZNF genes & repeats	NHEK	skin
31	chr2:133300400-133302400	ZNF genes & repeats	Liver	Liver
32	chr2:133300600-133301200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:133300600-133301200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:133300600-133302600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:133300800-133302000	Enhancers	Stomach Mucosa	stomach
36	chr2:133301000-133301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:133301000-133301400	Enhancers	Gastric	stomach
38	chr2:133301200-133301600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:133301200-133303000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:133301400-133301800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr2:133301400-133302000	Weak transcription	Gastric	stomach
42	chr2:133301400-133302400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:133301600-133308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:133302000-133302400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:133302000-133302400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:133302000-133302800	ZNF genes & repeats	Fetal Brain Female	brain
47	chr2:133302400-133302800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:133302400-133302800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:133302400-133321600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:133302800-133306800	Weak transcription	Fetal Brain Female	brain

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