Variant report

Variant	nsv2773
Chromosome Location	chr2:72603908-72649311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72615828..72618063-chr2:72620028..72621701,2	MCF-7	breast:
2	chr2:72643084..72645013-chr2:72652645..72655633,3	MCF-7	breast:
3	chr2:72607420..72609302-chr2:72612337..72614241,2	MCF-7	breast:
4	chr2:72615828..72618063-chr2:72620028..72621701,2	MCF-7	breast:
5	chr2:72607420..72609302-chr2:72612337..72614241,2	MCF-7	breast:
6	chr2:72613280..72613780-chr8:19325545..19326087,2	MCF-7	breast:
7	chr2:72616102..72617981-chr2:72733250..72735254,2	K562	blood:

Extended variants
information (count: 1637 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181851730	chr2:72603966-72603967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543018043	chr2:72603971-72603972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138506801	chr2:72604021-72604022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545429789	chr2:72604029-72604030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186461796	chr2:72604044-72604045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs653842	chr2:72604079-72604080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs539487758	chr2:72604208-72604209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552995556	chr2:72604253-72604254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530285313	chr2:72604265-72604266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532731001	chr2:72604271-72604272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78582389	chr2:72604309-72604310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566549716	chr2:72604333-72604334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572712282	chr2:72604371-72604372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533609318	chr2:72604395-72604396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555342695	chr2:72604480-72604481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114192294	chr2:72604487-72604488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112195214	chr2:72604514-72604515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191053683	chr2:72604555-72604556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577463490	chr2:72604584-72604585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544794562	chr2:72604588-72604589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553511654	chr2:72604595-72604596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140290362	chr2:72604621-72604622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182760156	chr2:72604712-72604713	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561348803	chr2:72604714-72604715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186629548	chr2:72604722-72604723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544155616	chr2:72604726-72604727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541716486	chr2:72604766-72604767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561397015	chr2:72604796-72604797	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532792471	chr2:72604804-72604805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112791781	chr2:72604843-72604844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559641612	chr2:72604850-72604851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527398657	chr2:72605014-72605015	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs367954685	chr2:72605068-72605069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548790107	chr2:72605077-72605078	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs150323141	chr2:72605080-72605081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374947843	chr2:72605094-72605095	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs11395477	chr2:72605104-72605105	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549706020	chr2:72605127-72605128	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs543591581	chr2:72605155-72605156	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs571218015	chr2:72605161-72605162	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538499998	chr2:72605176-72605177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190000651	chr2:72605192-72605193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553955249	chr2:72605223-72605224	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572110668	chr2:72605241-72605242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536785579	chr2:72605324-72605325	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138056594	chr2:72605346-72605347	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6731631	chr2:72605358-72605359	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs543826985	chr2:72605365-72605366	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565236018	chr2:72605388-72605389	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183350300	chr2:72605389-72605390	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72559200-72607400	Weak transcription	Liver	Liver
2	chr2:72572200-72607200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72576600-72605200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:72578000-72606400	Weak transcription	HSMM	muscle
5	chr2:72580200-72605200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:72581600-72607800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:72582600-72605400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:72590200-72604200	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:72592600-72613400	Weak transcription	Gastric	stomach
10	chr2:72594200-72608400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:72594400-72607200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:72595000-72605200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:72595000-72613400	Weak transcription	Aorta	Aorta
14	chr2:72595000-72613600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:72595200-72604200	Weak transcription	Placenta	Placenta
16	chr2:72595200-72605400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:72595200-72606800	Weak transcription	Lung	lung
18	chr2:72595200-72608600	Weak transcription	NHEK	skin
19	chr2:72595200-72613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:72595200-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:72595200-72613400	Weak transcription	Fetal Stomach	stomach
22	chr2:72595200-72613400	Weak transcription	Pancreas	Pancrea
23	chr2:72595200-72613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:72595200-72613600	Weak transcription	Right Ventricle	heart
25	chr2:72595400-72613200	Weak transcription	Left Ventricle	heart
26	chr2:72595400-72613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:72597200-72607000	Weak transcription	Fetal Brain Male	brain
28	chr2:72597400-72605200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:72597800-72606800	Weak transcription	Esophagus	oesophagus
30	chr2:72598000-72605200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:72598200-72604200	Weak transcription	Fetal Intestine Small	intestine
32	chr2:72598800-72604400	Weak transcription	Fetal Lung	lung
33	chr2:72598800-72605400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:72599200-72605400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:72599400-72604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:72599600-72605400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:72599600-72613400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:72599800-72604200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:72599800-72605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:72600000-72613400	Weak transcription	Ovary	ovary
41	chr2:72600200-72604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:72600200-72605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:72601200-72605200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:72601200-72613400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:72601400-72604000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:72601400-72605400	Weak transcription	Brain Anterior Caudate	brain
47	chr2:72601600-72605200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:72601800-72604600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:72601800-72605200	Weak transcription	Fetal Intestine Large	intestine
50	chr2:72602000-72606600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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