Variant report

Variant	esv3364621
Chromosome Location	chr1:78258471-78258844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78257432..78259771-chr1:78281995..78283502,2	K562	blood:
2	chr1:78246589..78249280-chr1:78255545..78258628,3	K562	blood:
3	chr1:78247053..78249280-chr1:78255420..78258628,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539052352	chr1:78258492-78258493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557602381	chr1:78258497-78258498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554686508	chr1:78258534-78258535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537386201	chr1:78258536-78258537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555251821	chr1:78258542-78258543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574473890	chr1:78258566-78258567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371605363	chr1:78258567-78258568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12069947	chr1:78258609-78258610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59656850	chr1:78258634-78258635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542301378	chr1:78258665-78258666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191371662	chr1:78258668-78258669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572443975	chr1:78258689-78258690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546231557	chr1:78258761-78258762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564536024	chr1:78258821-78258822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78246000-78265800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:78246000-78265800	Weak transcription	Pancreas	Pancrea
3	chr1:78246000-78284200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:78246000-78285600	Weak transcription	Colonic Mucosa	Colon
5	chr1:78246200-78272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:78246200-78272800	Weak transcription	Psoas Muscle	Psoas
7	chr1:78246200-78279400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:78246200-78279600	Weak transcription	Aorta	Aorta
9	chr1:78246400-78272400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:78246400-78273200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:78246400-78274000	Weak transcription	Fetal Kidney	kidney
12	chr1:78246400-78287400	Weak transcription	Fetal Heart	heart
13	chr1:78246600-78274200	Weak transcription	HMEC	breast
14	chr1:78247400-78278400	Weak transcription	Hela-S3	cervix
15	chr1:78247600-78262200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:78247600-78272400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:78248000-78260000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:78248600-78288200	Weak transcription	Small Intestine	intestine
19	chr1:78249000-78259200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:78249200-78271400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:78249800-78265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:78250400-78282400	Weak transcription	NHEK	skin
23	chr1:78250600-78262200	Weak transcription	HUVEC	blood vessel
24	chr1:78250600-78264200	Weak transcription	K562	blood
25	chr1:78250600-78279000	Weak transcription	NHLF	lung
26	chr1:78250800-78262200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:78250800-78268000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:78251000-78266200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:78251400-78261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:78252000-78262200	Weak transcription	Gastric	stomach
31	chr1:78252000-78262800	Strong transcription	Fetal Stomach	stomach
32	chr1:78252000-78272600	Weak transcription	Spleen	Spleen
33	chr1:78252000-78272800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:78252200-78282600	Weak transcription	Right Ventricle	heart
35	chr1:78252200-78315800	Weak transcription	Esophagus	oesophagus
36	chr1:78252400-78262200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:78252800-78262200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:78252800-78272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:78253000-78259800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:78253000-78262200	Weak transcription	Brain Angular Gyrus	brain
41	chr1:78253000-78266800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:78253000-78267200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:78253000-78267800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:78253000-78272800	Weak transcription	Thymus	Thymus
45	chr1:78253000-78273200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:78253000-78279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:78253000-78283800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:78253400-78260000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:78253600-78269800	Weak transcription	Brain Germinal Matrix	brain
50	chr1:78254200-78262200	Weak transcription	Osteobl	bone

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