Variant report

Variant	nsv436303
Chromosome Location	chr2:180065337-180083364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
2	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
3	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:
4	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:

Extended variants
information (count: 577 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577579801	chr2:180065341-180065342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10176829	chr2:180065357-180065358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs190252324	chr2:180065364-180065365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542835737	chr2:180065368-180065369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559573837	chr2:180065373-180065374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10211583	chr2:180065380-180065381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141615187	chr2:180065390-180065391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182422400	chr2:180065401-180065402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10187930	chr2:180065407-180065408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10211494	chr2:180065420-180065421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548572367	chr2:180065421-180065422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373014371	chr2:180065472-180065473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567674810	chr2:180065487-180065488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201046050	chr2:180065493-180065494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201622244	chr2:180065494-180065495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371545649	chr2:180065504-180065505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111302928	chr2:180065534-180065535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555607977	chr2:180065564-180065565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368286374	chr2:180065565-180065566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565920642	chr2:180065568-180065569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201075178	chr2:180065580-180065581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534913036	chr2:180065586-180065587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557795310	chr2:180065587-180065588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375564353	chr2:180065593-180065594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372154935	chr2:180065603-180065604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374794925	chr2:180065634-180065635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375391188	chr2:180065665-180065666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561993782	chr2:180065720-180065721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577549536	chr2:180065738-180065739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374424707	chr2:180065750-180065751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367993504	chr2:180065751-180065752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531054385	chr2:180065781-180065782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371482803	chr2:180065785-180065786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375898854	chr2:180065789-180065790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536662407	chr2:180065792-180065793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556991881	chr2:180065818-180065819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367620328	chr2:180065835-180065836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573658883	chr2:180065836-180065837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372245378	chr2:180065873-180065874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542772472	chr2:180065880-180065881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111980242	chr2:180065955-180065956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573150009	chr2:180065977-180065978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545277382	chr2:180065993-180065994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565475297	chr2:180066175-180066176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530902078	chr2:180066188-180066189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550700205	chr2:180066210-180066211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561391650	chr2:180066222-180066223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530205828	chr2:180066357-180066358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547160707	chr2:180066382-180066383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199821653	chr2:180066456-180066457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
3	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:180060200-180066800	Weak transcription	HepG2	liver
5	chr2:180065600-180068200	Weak transcription	Fetal Stomach	stomach
6	chr2:180066400-180067000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:180066800-180067600	ZNF genes & repeats	Fetal Kidney	kidney
8	chr2:180066800-180067800	ZNF genes & repeats	HepG2	liver
9	chr2:180066800-180068400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr2:180067000-180068400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr2:180067000-180068600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:180067200-180068000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
15	chr2:180067200-180068200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
16	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:180067400-180068000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr2:180067400-180068400	ZNF genes & repeats	Fetal Intestine Large	intestine
19	chr2:180067400-180068600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:180067600-180068000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:180067600-180068200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:180067600-180068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
24	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
25	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:180068200-180068400	Strong transcription	Fetal Stomach	stomach
30	chr2:180068400-180068600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:180068400-180068600	ZNF genes & repeats	Fetal Stomach	stomach
32	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach
37	chr2:180068800-180070800	Weak transcription	Fetal Intestine Small	intestine
38	chr2:180070000-180070200	Enhancers	Adipose Nuclei	Adipose
39	chr2:180070200-180071200	Weak transcription	Adipose Nuclei	Adipose
40	chr2:180070600-180070800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:180070800-180071600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:180071000-180071200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:180071200-180071600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:180071200-180071600	Enhancers	Adipose Nuclei	Adipose
45	chr2:180071200-180072000	ZNF genes & repeats	Fetal Stomach	stomach
46	chr2:180071200-180072200	Enhancers	HepG2	liver
47	chr2:180071400-180071600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr2:180071400-180072200	Enhancers	Left Ventricle	heart
49	chr2:180071800-180072400	Enhancers	Pancreas	Pancrea
50	chr2:180072400-180076800	Weak transcription	Fetal Stomach	stomach

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