Variant report

Variant	esv1811011
Chromosome Location	chr1:62439231-62450535
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	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:
2	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:

Extended variants
information (count: 453 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:453 , 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	rs34214424	chr1:62439256-62439257	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183382523	chr1:62439259-62439260	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs150827420	chr1:62439277-62439278	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185799971	chr1:62439303-62439304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532940073	chr1:62439315-62439316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112231808	chr1:62439363-62439364	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567483714	chr1:62439385-62439386	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11207881	chr1:62439387-62439388	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528004926	chr1:62439407-62439408	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369771949	chr1:62439417-62439418	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567538953	chr1:62439431-62439432	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs56091517	chr1:62439438-62439439	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537909859	chr1:62439461-62439462	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79438104	chr1:62439474-62439475	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373582281	chr1:62439549-62439550	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs17122873	chr1:62439550-62439551	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539005941	chr1:62439564-62439565	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550449463	chr1:62439609-62439610	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76012124	chr1:62439639-62439640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549114209	chr1:62439661-62439662	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs190559182	chr1:62439715-62439716	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs540173234	chr1:62439761-62439762	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs555560970	chr1:62439770-62439771	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573882153	chr1:62439807-62439808	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544464794	chr1:62439822-62439823	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79924503	chr1:62439847-62439848	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532920869	chr1:62439862-62439863	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370737288	chr1:62439863-62439864	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72914066	chr1:62439877-62439878	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143707657	chr1:62439886-62439887	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527955283	chr1:62439893-62439894	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549277349	chr1:62440047-62440048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199634861	chr1:62440075-62440076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149825131	chr1:62440078-62440079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111929206	chr1:62440079-62440080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2498970	chr1:62440081-62440082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374461434	chr1:62440100-62440101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377410130	chr1:62440102-62440103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147227818	chr1:62440116-62440117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182430300	chr1:62440146-62440147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188277904	chr1:62440150-62440151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2498971	chr1:62440160-62440161	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140495733	chr1:62440178-62440179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554100900	chr1:62440188-62440189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367927739	chr1:62440241-62440242	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565950110	chr1:62440381-62440382	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12040527	chr1:62440431-62440432	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568129618	chr1:62440470-62440471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538614835	chr1:62440570-62440571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142835430	chr1:62440576-62440577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	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
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
6	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:62418200-62446400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:62418400-62441400	Weak transcription	Fetal Kidney	kidney
9	chr1:62419600-62445800	Weak transcription	Left Ventricle	heart
10	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
11	chr1:62425000-62441400	Weak transcription	Stomach Mucosa	stomach
12	chr1:62430600-62442200	Weak transcription	Fetal Intestine Small	intestine
13	chr1:62433600-62456800	Weak transcription	NHEK	skin
14	chr1:62433800-62444800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:62433800-62445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:62434000-62457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:62434800-62444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:62438600-62439600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:62438600-62439600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:62438600-62445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:62439000-62439400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62439000-62439800	Enhancers	Psoas Muscle	Psoas
23	chr1:62439000-62439800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr1:62439000-62440000	Flanking Active TSS	Liver	Liver
25	chr1:62439000-62440000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr1:62439200-62439600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:62439200-62440200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:62439200-62441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:62439400-62441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62439600-62439800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:62439600-62439800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:62439800-62440000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:62439800-62440400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:62439800-62440800	Weak transcription	Psoas Muscle	Psoas
35	chr1:62439800-62440800	Enhancers	HepG2	liver
36	chr1:62439800-62441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:62440000-62440800	Enhancers	Liver	Liver
38	chr1:62440000-62441200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:62440200-62440400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:62440200-62440800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:62440400-62441600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:62440400-62457000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:62440600-62442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:62440800-62441800	Enhancers	Psoas Muscle	Psoas
45	chr1:62440800-62457000	Weak transcription	Liver	Liver
46	chr1:62441000-62441800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:62441200-62441400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:62441200-62441600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:62441200-62441600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:62441200-62441600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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