Variant report

Variant	nsv432398
Chromosome Location	chr1:77707391-77740836
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	chr1:77723558..77725362-chr1:77729194..77730896,2	K562	blood:
2	chr1:77711308..77714251-chr1:77714392..77716828,2	K562	blood:
3	chr1:77725962..77727892-chr1:77729929..77731695,2	K562	blood:
4	chr1:77725962..77727892-chr1:77729929..77731695,2	K562	blood:
5	chr1:77711308..77714251-chr1:77714392..77716828,2	K562	blood:
6	chr1:77727031..77728950-chr1:77737474..77739439,2	K562	blood:
7	chr1:77723558..77725362-chr1:77729194..77730896,2	K562	blood:
8	chr1:77727031..77728950-chr1:77737474..77739439,2	K562	blood:
9	chr1:77734487..77736181-chr1:77737477..77740179,2	K562	blood:
10	chr1:77734487..77736181-chr1:77737477..77740179,2	K562	blood:
11	chr1:77702380..77704409-chr1:77706790..77709328,2	K562	blood:

No data

Extended variants
information (count: 636 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2689672	chr1:77707391-77707392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539892562	chr1:77707398-77707399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112953552	chr1:77707424-77707425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532222606	chr1:77707430-77707431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79043345	chr1:77707456-77707457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556108638	chr1:77707461-77707462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79074099	chr1:77707466-77707467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77350258	chr1:77707493-77707494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569166269	chr1:77707497-77707498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569544955	chr1:77707501-77707502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202242752	chr1:77707507-77707508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2602954	chr1:77707521-77707522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537049143	chr1:77707547-77707548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567620772	chr1:77707559-77707560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115377639	chr1:77707561-77707562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553542791	chr1:77707570-77707571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373818450	chr1:77707674-77707675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571765318	chr1:77707687-77707688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539246516	chr1:77707704-77707705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370213720	chr1:77707736-77707737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575908425	chr1:77707765-77707766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542922880	chr1:77707840-77707841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554145338	chr1:77707885-77707886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572464527	chr1:77707921-77707922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142527088	chr1:77707950-77707951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564668307	chr1:77707951-77707952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558357465	chr1:77707966-77707967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532093606	chr1:77707971-77707972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544411796	chr1:77708032-77708033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181923581	chr1:77708074-77708075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76617010	chr1:77708077-77708078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78911207	chr1:77708094-77708095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80022653	chr1:77708097-77708098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577055075	chr1:77708119-77708120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528539614	chr1:77708231-77708232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546993603	chr1:77708279-77708280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539157085	chr1:77708354-77708355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571800374	chr1:77708401-77708402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184689722	chr1:77708411-77708412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189475671	chr1:77708414-77708415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372227617	chr1:77708430-77708431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551175907	chr1:77708503-77708504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146969120	chr1:77708543-77708544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536960261	chr1:77708659-77708660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs554882957	chr1:77708664-77708665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573179881	chr1:77708720-77708721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533578072	chr1:77708785-77708786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs137985396	chr1:77708800-77708801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576894342	chr1:77708822-77708823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543927470	chr1:77708823-77708824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77707000-77713200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77707800-77713000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:77708600-77709200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77709200-77713200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:77712000-77714200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:77712400-77713800	Weak transcription	Brain Anterior Caudate	brain
7	chr1:77712400-77714000	Weak transcription	Brain Substantia Nigra	brain
8	chr1:77713000-77713400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
9	chr1:77713000-77713600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr1:77713000-77713600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
11	chr1:77713200-77713400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:77713200-77713600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:77713200-77713600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:77713200-77713600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:77715200-77715600	Weak transcription	HSMM	muscle
16	chr1:77715600-77715800	Enhancers	HSMM	muscle
17	chr1:77718800-77719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:77718800-77719400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:77719000-77719400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:77719000-77719600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:77719200-77719600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:77719600-77719800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:77724200-77727000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:77729200-77729600	Enhancers	Stomach Mucosa	stomach
25	chr1:77730600-77731200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr1:77730600-77731200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr1:77730600-77731400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr1:77730800-77731000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr1:77730800-77731200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr1:77730800-77731200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:77730800-77731200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr1:77730800-77731200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:77730800-77731200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:77730800-77731400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr1:77730800-77731400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:77730800-77731400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:77730800-77731400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:77732200-77733600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:77732200-77733800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:77732400-77733400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:77732600-77732800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:77732600-77733600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:77732800-77733400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:77733000-77733400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:77733000-77733400	Enhancers	Primary T cells from cord blood	blood
46	chr1:77733400-77733600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:77733400-77735600	Weak transcription	Primary T cells from cord blood	blood
48	chr1:77735400-77735600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:77735600-77735800	Enhancers	Primary T cells from cord blood	blood
50	chr1:77736400-77740600	Enhancers	NHDF-Ad	bronchial

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