Variant report

Variant	esv1801297
Chromosome Location	chr1:76673530-76686142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76684523..76686317-chr1:76687873..76689608,2	K562	blood:

Extended variants
information (count: 461 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144728359	chr1:76673550-76673551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528401362	chr1:76673551-76673552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372367191	chr1:76673651-76673652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72998504	chr1:76673683-76673684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs200947422	chr1:76673733-76673734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77604898	chr1:76673734-76673735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34277706	chr1:76673735-76673736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71071993	chr1:76673736-76673737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377611487	chr1:76673737-76673738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12729622	chr1:76673738-76673739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148204311	chr1:76673746-76673747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568945967	chr1:76673751-76673752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535842727	chr1:76673752-76673753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375899070	chr1:76673755-76673756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76834607	chr1:76673801-76673802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72432902	chr1:76673802-76673803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200855257	chr1:76673803-76673804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566782570	chr1:76673824-76673825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77594034	chr1:76673848-76673849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113193142	chr1:76673861-76673862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556570931	chr1:76673881-76673882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577050354	chr1:76673927-76673928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544677146	chr1:76673975-76673976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79938531	chr1:76674011-76674012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17669251	chr1:76674016-76674017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112227298	chr1:76674021-76674022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3011989	chr1:76674065-76674066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17098360	chr1:76674066-76674067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540582731	chr1:76674084-76674085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182997967	chr1:76674196-76674197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541959968	chr1:76674254-76674255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561729879	chr1:76674301-76674302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530867091	chr1:76674343-76674344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550872472	chr1:76674359-76674360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200656823	chr1:76674413-76674414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397709633	chr1:76674421-76674422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532309160	chr1:76674439-76674440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550772078	chr1:76674451-76674452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185832230	chr1:76674468-76674469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529804778	chr1:76674482-76674483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190164029	chr1:76674490-76674491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566177657	chr1:76674508-76674509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546789923	chr1:76674528-76674529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534199077	chr1:76674529-76674530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552486953	chr1:76674611-76674612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570825788	chr1:76674633-76674634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566994173	chr1:76674668-76674669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538028334	chr1:76674690-76674691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150383344	chr1:76674700-76674701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138097941	chr1:76674746-76674747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76666400-76675000	Weak transcription	Aorta	Aorta
2	chr1:76666800-76673800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76673000-76675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76673800-76674200	Enhancers	Fetal Thymus	thymus
5	chr1:76674200-76674600	Weak transcription	Fetal Thymus	thymus
6	chr1:76674600-76676600	Enhancers	Primary T cells from cord blood	blood
7	chr1:76674600-76676800	Enhancers	Fetal Thymus	thymus
8	chr1:76674800-76676800	Enhancers	Thymus	Thymus
9	chr1:76675000-76675200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:76675000-76675200	ZNF genes & repeats	Aorta	Aorta
11	chr1:76675000-76676200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:76675000-76676200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:76675000-76676400	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:76675000-76676400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:76675000-76676600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:76675200-76676400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:76675200-76677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:76675400-76675600	Enhancers	Lung	lung
19	chr1:76675400-76675800	Enhancers	Primary B cells from cord blood	blood
20	chr1:76675400-76676200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:76675400-76676400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:76675800-76677000	Weak transcription	Lung	lung
23	chr1:76676800-76678200	Weak transcription	Thymus	Thymus
24	chr1:76676800-76683800	Weak transcription	Fetal Thymus	thymus
25	chr1:76681400-76684000	Weak transcription	Thymus	Thymus
26	chr1:76682000-76682400	Enhancers	Brain Hippocampus Middle	brain
27	chr1:76683800-76686800	Enhancers	Fetal Thymus	thymus
28	chr1:76684000-76684200	Enhancers	Thymus	Thymus
29	chr1:76684000-76684600	Enhancers	Primary B cells from cord blood	blood
30	chr1:76684000-76686600	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:76684200-76685200	Weak transcription	Thymus	Thymus
32	chr1:76684600-76685000	Active TSS	Primary B cells from cord blood	blood
33	chr1:76684800-76685600	Enhancers	Primary T cells from cord blood	blood
34	chr1:76685000-76685400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:76685200-76685800	Enhancers	Thymus	Thymus
36	chr1:76685400-76686600	Enhancers	Primary B cells from cord blood	blood

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