Variant report

Variant	nsv876686
Chromosome Location	chr3:34967346-35075355
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:34962614..34964399-chr3:35000866..35002523,2	K562	blood:
2	chr3:34982547..34985176-chr3:34986570..34988985,2	K562	blood:
3	chr3:34978062..34980513-chr3:34993341..34995038,2	K562	blood:
4	chr3:35048922..35050625-chr3:35053411..35055250,3	K562	blood:
5	chr3:34982547..34985176-chr3:34986570..34988985,2	K562	blood:
6	chr3:35049193..35051114-chr3:35052481..35054735,2	MCF-7	breast:
7	chr3:34997157..34999922-chr3:35000516..35002755,2	MCF-7	breast:
8	chr3:35049193..35051114-chr3:35052481..35054735,2	MCF-7	breast:
9	chr3:33986084..33987828-chr3:34982896..34984883,2	MCF-7	breast:
10	chr3:34997157..34999922-chr3:35000516..35002755,2	MCF-7	breast:
11	chr3:35048922..35050625-chr3:35053411..35055250,3	K562	blood:
12	chr3:35065335..35066180-chr3:35700989..35701537,2	MCF-7	breast:
13	chr3:34978062..34980513-chr3:34993341..34995038,2	K562	blood:

No data

Extended variants
information (count: 1565 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1565 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573259473	chr3:34970208-34970209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534413072	chr3:34970247-34970248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371310945	chr3:34970275-34970276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552653764	chr3:34970278-34970279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577783609	chr3:34970302-34970303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566480875	chr3:34970363-34970364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544909268	chr3:34970435-34970436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563475878	chr3:34970482-34970483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60318410	chr3:34970527-34970528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75778202	chr3:34970528-34970529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538698972	chr3:34970533-34970534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12637283	chr3:34970534-34970535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575655329	chr3:34970535-34970536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542935393	chr3:34970536-34970537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369058352	chr3:34970538-34970539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72342098	chr3:34970539-34970540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540861172	chr3:34970540-34970541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563394329	chr3:34970545-34970546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57981348	chr3:34970549-34970550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376305131	chr3:34970550-34970551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139121959	chr3:34970553-34970554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200062859	chr3:34970555-34970556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529258573	chr3:34970560-34970561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186774799	chr3:34970590-34970591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536650147	chr3:34970604-34970605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535493034	chr3:34970617-34970618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140182632	chr3:34970632-34970633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191421064	chr3:34970633-34970634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145379115	chr3:34970651-34970652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116330584	chr3:34970683-34970684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137883316	chr3:34970684-34970685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547998170	chr3:34970753-34970754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561406276	chr3:34970776-34970777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573419107	chr3:34970826-34970827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140839721	chr3:34970833-34970834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73063843	chr3:34970889-34970890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145139516	chr3:34970985-34970986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571281687	chr3:34971011-34971012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7652900	chr3:34971013-34971014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557232590	chr3:34971033-34971034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34646491	chr3:34971034-34971035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577230673	chr3:34971067-34971068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183199861	chr3:34971098-34971099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542947570	chr3:34971134-34971135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375268202	chr3:34971141-34971142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369405544	chr3:34971153-34971154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574099568	chr3:34971172-34971173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546287620	chr3:34971173-34971174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541103610	chr3:34971192-34971193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187751010	chr3:34972216-34972217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34970200-34971200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr3:34972200-34972400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:34972200-34972400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:34972400-34973600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:34975800-34976400	Enhancers	Fetal Heart	heart
6	chr3:34986200-34987000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:34987000-34989400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:34988400-34990200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:34988600-34989000	Enhancers	Fetal Muscle Leg	muscle
10	chr3:34988600-34990200	Enhancers	Fetal Heart	heart
11	chr3:34988600-34991200	Enhancers	NH-A	brain
12	chr3:34988800-34989400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:34988800-34989600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:34988800-34990200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:34989000-34990000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:34989000-34990000	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:34989000-34990400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:34989000-34990600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:34989200-34990200	Enhancers	Adipose Nuclei	Adipose
20	chr3:34989400-34989600	Enhancers	Aorta	Aorta
21	chr3:34989400-34989800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:34989400-34989800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:34989400-34989800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:34989400-34990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:34989600-34990000	Enhancers	Brain Hippocampus Middle	brain
26	chr3:34990000-34990200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:34990000-34990600	Enhancers	Fetal Muscle Leg	muscle
28	chr3:34990200-34990400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:34990200-34990600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:34990800-34991200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:34996600-35000400	Enhancers	Dnd41	blood
32	chr3:34996800-34999800	Enhancers	Primary T cells from cord blood	blood
33	chr3:34997000-34997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:34997000-34997400	Bivalent Enhancer	Fetal Thymus	thymus
35	chr3:34997000-34997800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:34997200-34997600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:34998000-34998400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr3:34998200-34998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr3:34998200-34999600	Enhancers	NH-A	brain
40	chr3:34999200-34999600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr3:34999600-35000000	Weak transcription	NH-A	brain
42	chr3:35000000-35000400	Enhancers	NH-A	brain
43	chr3:35010600-35011000	Enhancers	Fetal Heart	heart
44	chr3:35011000-35013800	Weak transcription	Fetal Heart	heart
45	chr3:35013400-35014200	Enhancers	Dnd41	blood
46	chr3:35013800-35014200	Enhancers	Fetal Heart	heart
47	chr3:35024200-35025200	Enhancers	Fetal Brain Male	brain
48	chr3:35024600-35024800	Enhancers	Fetal Brain Female	brain
49	chr3:35025200-35025600	Active TSS	Fetal Brain Male	brain
50	chr3:35025400-35027000	Active TSS	Fetal Brain Female	brain

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