Variant report

Variant	nsv877093
Chromosome Location	chr3:85101501-85194054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:80636124..80636926-chr3:85151824..85152666,2	Hela-S3	cervix:
2	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:
3	chr2:3280509..3281035-chr3:85109594..85110094,2	MCF-7	breast:
4	chr17:61841151..61841973-chr3:85118490..85119197,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 3510 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3510 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10490896	chr3:85101501-85101502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187467179	chr3:85101505-85101506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192614308	chr3:85101510-85101511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552964091	chr3:85101547-85101548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10490897	chr3:85101573-85101574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547255365	chr3:85101578-85101579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566467149	chr3:85101587-85101588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146908918	chr3:85101603-85101604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558553425	chr3:85101604-85101605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147925954	chr3:85101619-85101620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141782594	chr3:85101646-85101647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150320891	chr3:85101647-85101648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570134034	chr3:85101658-85101659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137961289	chr3:85101678-85101679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574549837	chr3:85101700-85101701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541908319	chr3:85101708-85101709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149060039	chr3:85101789-85101790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572407694	chr3:85101792-85101793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73843272	chr3:85101796-85101797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs113434244	chr3:85101798-85101799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60682325	chr3:85101807-85101808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546510158	chr3:85101854-85101855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569640322	chr3:85101871-85101872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143012002	chr3:85101872-85101873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138533955	chr3:85101892-85101893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554865501	chr3:85101967-85101968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185685656	chr3:85102007-85102008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141831250	chr3:85102014-85102015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529855507	chr3:85102029-85102030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540941144	chr3:85102038-85102039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112911970	chr3:85102080-85102081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548304086	chr3:85102098-85102099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566502365	chr3:85102132-85102133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533541471	chr3:85102214-85102215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552462857	chr3:85102274-85102275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570628736	chr3:85102320-85102321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554485708	chr3:85102426-85102427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146280838	chr3:85102431-85102432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555979021	chr3:85102467-85102468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574287859	chr3:85102526-85102527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535579565	chr3:85102661-85102662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201852616	chr3:85102690-85102691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577347459	chr3:85102703-85102704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559192141	chr3:85102704-85102705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553832943	chr3:85102716-85102717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572418232	chr3:85102725-85102726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545849718	chr3:85102752-85102753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111692197	chr3:85102754-85102755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75141803	chr3:85102758-85102759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576620074	chr3:85102766-85102767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85096200-85103200	Weak transcription	Fetal Brain Male	brain
2	chr3:85100000-85101600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:85100400-85101600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:85100600-85101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:85100800-85101600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:85100800-85103400	Weak transcription	Fetal Brain Female	brain
7	chr3:85101000-85101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:85101600-85103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:85102000-85102200	Enhancers	Brain Hippocampus Middle	brain
10	chr3:85102200-85106000	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:85103200-85104000	Enhancers	Fetal Brain Male	brain
12	chr3:85103400-85104400	Enhancers	Fetal Brain Female	brain
13	chr3:85103600-85104000	Enhancers	Fetal Lung	lung
14	chr3:85103800-85104400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:85104400-85105600	Weak transcription	Fetal Brain Female	brain
16	chr3:85105600-85105800	Enhancers	Fetal Brain Female	brain
17	chr3:85106000-85106200	Enhancers	Brain Hippocampus Middle	brain
18	chr3:85106200-85127400	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:85111000-85111400	Enhancers	Fetal Brain Male	brain
20	chr3:85111400-85111600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:85113200-85115200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:85115200-85117000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:85115400-85116600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:85115800-85116200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:85116600-85117000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:85116600-85130400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:85117000-85123600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:85117600-85118200	Enhancers	Brain Substantia Nigra	brain
29	chr3:85118200-85118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:85118200-85130400	Weak transcription	Brain Substantia Nigra	brain
31	chr3:85118400-85122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:85121600-85121800	Enhancers	Brain Angular Gyrus	brain
33	chr3:85122000-85122400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:85122000-85122600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:85122400-85122600	Enhancers	Brain Angular Gyrus	brain
36	chr3:85122400-85130800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:85122600-85123200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:85123200-85123400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:85123200-85123400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:85123200-85123600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:85123200-85125600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:85123400-85124000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:85123400-85124000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr3:85123400-85124200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:85123600-85123800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:85123600-85124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:85123800-85124600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:85124000-85124200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr3:85124000-85124400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:85124200-85127200	Weak transcription	Brain Inferior Temporal Lobe	brain

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