Variant report

Variant	nsv1001005
Chromosome Location	chr3:60433224-60472410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
2	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:
3	chr3:60468425..60470651-chr3:60470930..60473335,2	K562	blood:
4	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
5	chr3:60435518..60437406-chr3:60439396..60441037,2	K562	blood:
6	chr3:60467604..60470651-chr3:60470930..60473335,3	K562	blood:

Extended variants
information (count: 949 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386348	chr3:60433224-60433225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560201718	chr3:60433226-60433227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527375251	chr3:60433239-60433240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373512714	chr3:60433267-60433268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564500663	chr3:60433282-60433283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs995468	chr3:60433285-60433286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs995467	chr3:60433315-60433316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568710203	chr3:60433324-60433325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535776101	chr3:60433336-60433337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181319091	chr3:60433351-60433352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375883903	chr3:60433353-60433354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185300295	chr3:60433403-60433404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112523919	chr3:60433406-60433407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34839200	chr3:60433412-60433413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs995466	chr3:60433413-60433414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576944591	chr3:60433416-60433417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114918932	chr3:60433417-60433418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556090428	chr3:60433440-60433441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146386866	chr3:60433470-60433471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2362883	chr3:60433480-60433481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542189108	chr3:60433527-60433528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560190673	chr3:60433563-60433564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117319880	chr3:60433582-60433583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545899351	chr3:60433585-60433586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564174724	chr3:60433628-60433629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531329672	chr3:60433644-60433645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139769594	chr3:60433661-60433662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562151288	chr3:60433663-60433664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71313770	chr3:60433694-60433695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529533137	chr3:60433701-60433702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547730264	chr3:60433706-60433707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565713028	chr3:60433708-60433709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546734328	chr3:60433711-60433712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141488928	chr3:60433728-60433729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551498547	chr3:60433763-60433764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146183810	chr3:60433765-60433766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537160057	chr3:60433806-60433807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556316831	chr3:60433812-60433813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568213520	chr3:60433857-60433858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7642636	chr3:60433862-60433863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554142319	chr3:60433871-60433872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112947212	chr3:60433880-60433881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187464869	chr3:60433891-60433892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572387206	chr3:60433906-60433907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532214064	chr3:60433999-60434000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545789199	chr3:60434019-60434020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375126490	chr3:60434022-60434023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565828345	chr3:60434058-60434059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369670997	chr3:60434059-60434060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7632784	chr3:60434069-60434070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60431000-60434800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:60434200-60435000	Enhancers	Fetal Stomach	stomach
3	chr3:60434200-60435000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:60434800-60435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:60434800-60435200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:60439000-60439400	Enhancers	Fetal Intestine Large	intestine
7	chr3:60441800-60442400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr3:60442000-60442400	Enhancers	Primary T cells from cord blood	blood
9	chr3:60446400-60448000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:60446600-60447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:60446800-60447600	Enhancers	Adipose Nuclei	Adipose
12	chr3:60447200-60447800	Enhancers	Fetal Muscle Leg	muscle
13	chr3:60448400-60448600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:60448400-60448800	Enhancers	Pancreas	Pancrea
15	chr3:60449200-60449600	Enhancers	Fetal Intestine Large	intestine
16	chr3:60449200-60450000	Enhancers	Duodenum Mucosa	Duodenum
17	chr3:60449200-60450000	Enhancers	Fetal Intestine Small	intestine
18	chr3:60449200-60450000	Enhancers	Stomach Mucosa	stomach
19	chr3:60454600-60455400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:60454600-60455400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:60454800-60455400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:60455000-60455600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:60455400-60458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:60455600-60458800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:60458600-60458800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:60458600-60459200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:60458800-60459200	Enhancers	Brain Germinal Matrix	brain
28	chr3:60458800-60459400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:60458800-60459400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:60459400-60461600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:60459400-60462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:60460800-60462200	Enhancers	Fetal Heart	heart
33	chr3:60461200-60461600	Enhancers	Left Ventricle	heart
34	chr3:60461200-60461600	Enhancers	Right Atrium	heart
35	chr3:60461600-60462000	Weak transcription	Left Ventricle	heart
36	chr3:60462000-60462400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:60462000-60462600	Enhancers	Left Ventricle	heart
38	chr3:60462200-60464200	Weak transcription	Fetal Heart	heart
39	chr3:60463800-60464200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr3:60464200-60464600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:60464200-60464600	Enhancers	Fetal Heart	heart
42	chr3:60464400-60466400	Weak transcription	Ovary	ovary
43	chr3:60472200-60472400	Enhancers	Fetal Intestine Large	intestine
44	chr3:60472200-60472800	Enhancers	Fetal Intestine Small	intestine
45	chr3:60472400-60473200	Weak transcription	Fetal Intestine Large	intestine

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