Variant report

Variant	nsv822106
Chromosome Location	chr3:61577755-61631078
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:98)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:61620317..61621989-chr3:61689804..61691755,2	MCF-7	breast:
2	chr3:61609621..61617311-chr3:61628614..61634388,16	MCF-7	breast:
3	chr3:61624738..61627491-chr3:61638933..61641221,2	MCF-7	breast:
4	chr3:61609497..61611951-chr3:61642705..61644656,2	MCF-7	breast:
5	chr3:61613281..61613978-chr3:61630536..61631431,2	MCF-7	breast:
6	chr17:56643281..56645714-chr3:61608376..61611221,2	MCF-7	breast:
7	chr3:61613117..61614039-chr3:61793174..61794166,6	MCF-7	breast:
8	chr20:52765397..52766265-chr3:61613482..61614028,2	MCF-7	breast:
9	chr17:56656888..56658706-chr3:61613944..61615514,2	MCF-7	breast:
10	chr3:61608730..61611507-chr3:61629104..61631590,2	MCF-7	breast:
11	chr17:56716683..56717867-chr3:61613091..61614018,6	MCF-7	breast:
12	chr3:61626740..61629323-chr3:61629960..61632715,2	K562	blood:
13	chr3:61613176..61615116-chr3:61627442..61629840,2	MCF-7	breast:
14	chr3:61619918..61620648-chr3:61793251..61794078,2	MCF-7	breast:
15	chr3:61613583..61614087-chr3:61630872..61631526,2	MCF-7	breast:
16	chr17:56734668..56738970-chr3:61603973..61616839,24	MCF-7	breast:
17	chr3:61614514..61617033-chr3:61662536..61664540,2	MCF-7	breast:
18	chr17:56656421..56660315-chr3:61617038..61620741,4	MCF-7	breast:
19	chr17:56768260..56770134-chr3:61623021..61624941,2	MCF-7	breast:
20	chr17:56735102..56739393-chr3:61610159..61616019,10	MCF-7	breast:
21	chr17:56730838..56733120-chr3:61609560..61612509,2	MCF-7	breast:
22	chr3:61587124..61588819-chr3:61607110..61609608,2	MCF-7	breast:
23	chr3:61612275..61614710-chr3:61668214..61670178,2	MCF-7	breast:
24	chr3:61612690..61615285-chr3:61634905..61638898,3	MCF-7	breast:
25	chr19:33570754..33572499-chr3:61605256..61607373,2	MCF-7	breast:
26	chr3:61546186..61548372-chr3:61616811..61618452,2	MCF-7	breast:
27	chr3:61606707..61609729-chr3:61642536..61645545,3	MCF-7	breast:
28	chr17:56697743..56700013-chr3:61624676..61626397,2	MCF-7	breast:
29	chr17:56644903..56646915-chr3:61619833..61622124,3	MCF-7	breast:
30	chr17:56636126..56637216-chr3:61604720..61605356,3	MCF-7	breast:
31	chr17:56704810..56711827-chr3:61617461..61633126,28	MCF-7	breast:
32	chr3:61626740..61629323-chr3:61629960..61632715,2	K562	blood:
33	chr3:61620148..61620973-chr3:61793249..61794018,3	MCF-7	breast:
34	chr17:56635069..56638406-chr3:61603721..61607564,12	MCF-7	breast:
35	chr17:56700896..56703722-chr3:61613088..61615186,2	MCF-7	breast:
36	chr17:56649570..56655387-chr3:61609668..61616460,11	MCF-7	breast:
37	chr3:61626575..61629364-chr3:61641624..61643310,2	MCF-7	breast:
38	chr17:56703125..56711935-chr3:61611656..61626888,27	MCF-7	breast:
39	chr17:56635071..56649233-chr3:61603708..61615718,44	MCF-7	breast:
40	chr3:61630698..61632717-chr3:61639309..61641493,3	MCF-7	breast:
41	chr17:56671169..56673208-chr3:61611941..61613573,2	MCF-7	breast:
42	chr3:61545829..61550428-chr3:61627610..61634098,7	MCF-7	breast:
43	chr3:61628542..61630516-chr3:61671004..61673939,2	MCF-7	breast:
44	chr3:61608730..61611507-chr3:61629104..61631590,2	MCF-7	breast:
45	chr3:61580215..61582138-chr3:61583909..61586635,2	K562	blood:
46	chr17:56663844..56666435-chr3:61626254..61629059,2	MCF-7	breast:
47	chr3:61547448..61549903-chr3:61602070..61604046,2	MCF-7	breast:
48	chr17:56734947..56737900-chr3:61624253..61627874,6	MCF-7	breast:
49	chr17:56671414..56673052-chr3:61605898..61608821,2	MCF-7	breast:
50	chr3:61620655..61625316-chr3:61640653..61644936,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	chromatin interactions
ENSG00000076650	chromatin interactions
ENSG00000121101	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000108384	chromatin interactions
ENSG00000266826	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000144724	chromatin interactions
ENSG00000062716	chromatin interactions

Extended variants
information (count: 2384 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2384 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547598539	chr3:61577769-61577770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183362007	chr3:61577840-61577841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112837210	chr3:61577882-61577883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149336674	chr3:61577883-61577884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9851261	chr3:61577918-61577919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373659457	chr3:61577928-61577929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555425469	chr3:61577931-61577932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574700610	chr3:61577933-61577934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371558021	chr3:61577961-61577962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138330221	chr3:61577998-61577999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190644156	chr3:61578013-61578014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183548955	chr3:61578021-61578022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143902710	chr3:61578056-61578057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557825467	chr3:61578070-61578071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377127387	chr3:61578071-61578072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559890968	chr3:61578127-61578128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375702680	chr3:61578128-61578129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576015444	chr3:61578156-61578157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188030991	chr3:61578180-61578181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191348771	chr3:61578188-61578189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529624586	chr3:61578201-61578202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541302943	chr3:61578211-61578212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559566345	chr3:61578271-61578272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533337330	chr3:61578283-61578284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531450703	chr3:61578299-61578300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551516517	chr3:61578300-61578301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549458656	chr3:61578311-61578312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201689140	chr3:61578319-61578320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368376208	chr3:61578321-61578322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572514416	chr3:61578323-61578324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199962984	chr3:61578326-61578327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10866049	chr3:61578327-61578328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs62243031	chr3:61578341-61578342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528853689	chr3:61578345-61578346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549374749	chr3:61578362-61578363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567538232	chr3:61578385-61578386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147265200	chr3:61578386-61578387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547381819	chr3:61578387-61578388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554107539	chr3:61578393-61578394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567010580	chr3:61578405-61578406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565922812	chr3:61578426-61578427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553998653	chr3:61578441-61578442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140836675	chr3:61578457-61578458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141500777	chr3:61578496-61578497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386661570	chr3:61578506-61578507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7638537	chr3:61578507-61578508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573298956	chr3:61578513-61578514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7638610	chr3:61578540-61578541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559626337	chr3:61578579-61578580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34182292	chr3:61578580-61578581	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
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
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61558400-61579800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:61562400-61578600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:61564600-61593400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:61565000-61579800	Weak transcription	Adipose Nuclei	Adipose
5	chr3:61565200-61588800	Weak transcription	Fetal Intestine Small	intestine
6	chr3:61567200-61578800	Weak transcription	Brain Anterior Caudate	brain
7	chr3:61567200-61579800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:61567200-61580800	Weak transcription	Fetal Kidney	kidney
9	chr3:61569600-61578800	Weak transcription	HMEC	breast
10	chr3:61569600-61594400	Weak transcription	Pancreas	Pancrea
11	chr3:61570200-61579800	Weak transcription	Liver	Liver
12	chr3:61570200-61580000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:61570200-61580200	Weak transcription	NHEK	skin
14	chr3:61570600-61578600	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:61570600-61579800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:61572600-61578000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:61572800-61578400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:61572800-61579800	Weak transcription	Ovary	ovary
19	chr3:61574000-61578400	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:61574800-61578000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:61574800-61580000	Weak transcription	Fetal Stomach	stomach
22	chr3:61575000-61578600	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:61575600-61579800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:61575600-61579800	Weak transcription	Esophagus	oesophagus
25	chr3:61575600-61580000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:61575800-61578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:61575800-61578000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr3:61575800-61578000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:61575800-61578400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:61575800-61578400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:61575800-61578400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:61575800-61578400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:61575800-61578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:61575800-61578600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:61575800-61578600	Weak transcription	Fetal Heart	heart
36	chr3:61575800-61578600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:61575800-61578800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:61575800-61578800	Weak transcription	NHDF-Ad	bronchial
39	chr3:61575800-61579000	Weak transcription	NHLF	lung
40	chr3:61575800-61579400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:61575800-61579600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:61575800-61579800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:61575800-61579800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:61575800-61579800	Weak transcription	Lung	lung
45	chr3:61575800-61580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:61575800-61580000	Weak transcription	HSMMtube	muscle
47	chr3:61575800-61580200	Weak transcription	HSMM	muscle
48	chr3:61575800-61580400	Weak transcription	Osteobl	bone
49	chr3:61575800-61581000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:61575800-61586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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