Variant report

Variant	nsv1006396
Chromosome Location	chr1:64723703-64769485
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:64747599..64749584-chr1:64752328..64754322,2	MCF-7	breast:
2	chr1:64747599..64749584-chr1:64752328..64754322,2	MCF-7	breast:
3	chr1:64744489..64747254-chr1:64749124..64750884,2	K562	blood:
4	chr1:64744489..64747254-chr1:64749124..64750884,2	K562	blood:
5	chr1:64734683..64735627-chr1:65141295..65142053,3	MCF-7	breast:
6	chr1:64753452..64756020-chr1:64760249..64761940,2	K562	blood:
7	chr1:64734513..64735365-chr1:64952428..64953070,5	MCF-7	breast:
8	chr1:64734478..64735120-chr1:65289561..65290560,5	K562	blood:
9	chr1:64734478..64735394-chr1:64952477..64953272,5	MCF-7	breast:
10	chr1:64734473..64734993-chr1:64829195..64829695,2	MCF-7	breast:
11	chr1:64753452..64756020-chr1:64760249..64761940,2	K562	blood:

No data

Extended variants
information (count: 1334 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552327980	chr1:64725601-64725602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571690803	chr1:64725617-64725618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192643435	chr1:64725641-64725642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543266027	chr1:64725649-64725650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555174097	chr1:64725659-64725660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570701976	chr1:64725688-64725689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540708989	chr1:64725697-64725698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114020981	chr1:64725706-64725707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148557280	chr1:64725731-64725732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs705540	chr1:64725787-64725788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184574432	chr1:64725788-64725789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113328730	chr1:64725859-64725860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565470328	chr1:64725872-64725873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559211965	chr1:64725896-64725897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs705541	chr1:64725904-64725905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs76232521	chr1:64725933-64725934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114712320	chr1:64726045-64726046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114227372	chr1:64726049-64726050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11590432	chr1:64726061-64726062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11208392	chr1:64726065-64726066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59424600	chr1:64726149-64726150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369595597	chr1:64726150-64726151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397939205	chr1:64726153-64726154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571643624	chr1:64726266-64726267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189040709	chr1:64726285-64726286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142875455	chr1:64726293-64726294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373969704	chr1:64726326-64726327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11208393	chr1:64726384-64726385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547876596	chr1:64726391-64726392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs705542	chr1:64726414-64726415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536670246	chr1:64726435-64726436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554997459	chr1:64726498-64726499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566325869	chr1:64726519-64726520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373803223	chr1:64726533-64726534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555695741	chr1:64726547-64726548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570290445	chr1:64726608-64726609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151050594	chr1:64726630-64726631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548153128	chr1:64726650-64726651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376232924	chr1:64726733-64726734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374962523	chr1:64726755-64726756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532981038	chr1:64726806-64726807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558890834	chr1:64726862-64726863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372080664	chr1:64726885-64726886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577342104	chr1:64727030-64727031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181953020	chr1:64727054-64727055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552685869	chr1:64727065-64727066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141234334	chr1:64727079-64727080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143627353	chr1:64727094-64727095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555105474	chr1:64727167-64727168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114735138	chr1:64727225-64727226	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:64725600-64726200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:64726200-64726600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:64726600-64731000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:64727000-64727400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:64727200-64727400	Enhancers	NHEK	skin
6	chr1:64727200-64727600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:64727400-64728400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:64727400-64728400	Weak transcription	NHEK	skin
9	chr1:64727600-64728000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:64727600-64728000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:64727800-64728200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:64728000-64728400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:64728000-64730400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:64728200-64730000	Enhancers	HMEC	breast
15	chr1:64728400-64728800	Enhancers	NHEK	skin
16	chr1:64728400-64730000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:64728600-64730200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:64728800-64729000	Flanking Active TSS	NHEK	skin
19	chr1:64729000-64729400	Enhancers	NH-A	brain
20	chr1:64729000-64729400	Enhancers	NHEK	skin
21	chr1:64729000-64729800	Enhancers	HUVEC	blood vessel
22	chr1:64729000-64729800	Bivalent Enhancer	Osteobl	bone
23	chr1:64729400-64729600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:64729400-64729600	Bivalent Enhancer	Hela-S3	cervix
25	chr1:64729400-64729800	Enhancers	Esophagus	oesophagus
26	chr1:64729400-64729800	Flanking Active TSS	NHEK	skin
27	chr1:64729400-64733800	Enhancers	Fetal Lung	lung
28	chr1:64729600-64730000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:64729800-64730200	Enhancers	NHEK	skin
30	chr1:64729800-64734600	Weak transcription	Esophagus	oesophagus
31	chr1:64730000-64734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:64730000-64734600	Weak transcription	HMEC	breast
33	chr1:64730200-64734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:64730200-64734600	Weak transcription	NHEK	skin
35	chr1:64730400-64734400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:64731000-64734400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:64733400-64733600	Enhancers	Liver	Liver
38	chr1:64733600-64733800	Enhancers	Pancreas	Pancrea
39	chr1:64733600-64734600	Weak transcription	Liver	Liver
40	chr1:64733800-64735000	Weak transcription	Fetal Lung	lung
41	chr1:64733800-64738800	Weak transcription	Pancreas	Pancrea
42	chr1:64734200-64734400	Enhancers	Placenta	Placenta
43	chr1:64734400-64734600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:64734400-64734800	Flanking Active TSS	Placenta	Placenta
45	chr1:64734400-64734800	Active TSS	A549	lung
46	chr1:64734400-64735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:64734400-64735600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr1:64734600-64734800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr1:64734600-64734800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:64734600-64734800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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