Variant report

Variant	nsv441697
Chromosome Location	chr1:77774872-77779832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:77684347..77685329-chr1:77778972..77779827,3	MCF-7	breast:
2	chr1:77766400..77769347-chr1:77774174..77776470,2	K562	blood:
3	chr1:77773875..77776592-chr1:77778401..77780393,2	K562	blood:
4	chr1:77773875..77776592-chr1:77778401..77780393,2	K562	blood:
5	chr1:77613856..77614476-chr1:77778903..77779788,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142892	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186766341	chr1:77774874-77774875	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1670618	chr1:77774914-77774915	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs138403152	chr1:77774949-77774950	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77918430	chr1:77775000-77775001	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372136779	chr1:77775013-77775014	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1670617	chr1:77775014-77775015	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2815319	chr1:77775066-77775067	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538346875	chr1:77775079-77775080	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556668905	chr1:77775080-77775081	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574951440	chr1:77775092-77775093	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143895788	chr1:77775129-77775130	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554052017	chr1:77775142-77775143	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7547493	chr1:77775233-77775234	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565942753	chr1:77775246-77775247	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546140250	chr1:77775251-77775252	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76688783	chr1:77775309-77775310	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531179671	chr1:77775313-77775314	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543128124	chr1:77775325-77775326	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548856810	chr1:77775331-77775332	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561479932	chr1:77775362-77775363	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191543172	chr1:77775397-77775398	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561617023	chr1:77775426-77775427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565724969	chr1:77775518-77775519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533269396	chr1:77775524-77775525	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376436599	chr1:77775595-77775596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183804622	chr1:77775617-77775618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530330712	chr1:77775622-77775623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188691751	chr1:77775647-77775648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2602953	chr1:77775704-77775705	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2799554	chr1:77775731-77775732	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568570113	chr1:77775746-77775747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12061595	chr1:77775787-77775788	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs2799553	chr1:77775793-77775794	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs572499409	chr1:77775846-77775847	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9439799	chr1:77775853-77775854	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557993286	chr1:77775870-77775871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72677895	chr1:77775884-77775885	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377337542	chr1:77775888-77775889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150620949	chr1:77775899-77775900	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12062661	chr1:77775914-77775915	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112197828	chr1:77775953-77775954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540731525	chr1:77775984-77775985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9439800	chr1:77775997-77775998	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532956711	chr1:77776028-77776029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540206992	chr1:77776041-77776042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72641173	chr1:77776045-77776046	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2815320	chr1:77776062-77776063	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs376410032	chr1:77776067-77776068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568354477	chr1:77776070-77776071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535948314	chr1:77776078-77776079	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77749000-77779200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77749200-77778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:77749400-77781600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:77754400-77785800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:77755200-77781600	Weak transcription	Osteobl	bone
6	chr1:77755800-77788200	Weak transcription	HSMMtube	muscle
7	chr1:77756800-77781600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:77757600-77777400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:77758000-77778400	Weak transcription	Brain Angular Gyrus	brain
10	chr1:77759000-77781600	Weak transcription	NHLF	lung
11	chr1:77767600-77776600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:77771800-77780200	Strong transcription	NHDF-Ad	bronchial
13	chr1:77772400-77775000	Enhancers	Primary T cells from cord blood	blood
14	chr1:77772400-77776000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:77772600-77776200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:77772800-77777800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:77773400-77776000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:77773800-77775200	Enhancers	K562	blood
19	chr1:77773800-77777000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr1:77774000-77790400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:77774200-77775000	Enhancers	Fetal Thymus	thymus
22	chr1:77774200-77775600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:77774200-77776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:77774200-77776000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:77774600-77775000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:77774600-77775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:77774600-77776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:77774600-77776200	Enhancers	Primary hematopoietic stem cells	blood
29	chr1:77774600-77778200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:77774600-77778600	Weak transcription	HSMM	muscle
31	chr1:77774600-77779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:77774800-77775200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr1:77774800-77775200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:77774800-77776000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr1:77774800-77776000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:77774800-77778400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:77774800-77787200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:77775000-77775200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:77775000-77775400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:77775200-77776200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr1:77775200-77776400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:77775200-77778400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:77775400-77777400	Enhancers	Primary T cells from cord blood	blood
44	chr1:77775800-77776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:77776000-77776400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:77776000-77776800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:77776000-77777800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:77776000-77778400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:77776000-77779000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:77776200-77776800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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