Variant report

Variant	esv3360173
Chromosome Location	chr1:76219042-76219527
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	chr1:76216562..76219255-chr1:76235194..76236750,2	K562	blood:
2	chr1:76189684..76191516-chr1:76216756..76219310,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	chromatin interactions
ENSG00000178193	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558394971	chr1:76219055-76219056	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567247072	chr1:76219064-76219065	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572711366	chr1:76219082-76219083	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs80284076	chr1:76219102-76219103	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75573583	chr1:76219111-76219112	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114332655	chr1:76219112-76219113	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1767458	chr1:76219155-76219156	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs142878325	chr1:76219226-76219227	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538865221	chr1:76219301-76219302	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557491137	chr1:76219326-76219327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375174757	chr1:76219350-76219351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs74604587	chr1:76219361-76219362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12074404	chr1:76219437-76219438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs538999249	chr1:76219448-76219449	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375925795	chr1:76219480-76219481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs71071962	chr1:76219481-76219482	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs78030966	chr1:76219482-76219483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs397980555	chr1:76219499-76219500	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371273283	chr1:76219500-76219501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376351994	chr1:76219501-76219502	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561654162	chr1:76219505-76219506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371550566	chr1:76219508-76219509	Weak transcription Strong transcription ZNF genes & repeats	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
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

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
8	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:76196000-76222000	Strong transcription	Liver	Liver
10	chr1:76197600-76219400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:76199600-76220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
13	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
14	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
15	chr1:76208600-76223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:76208800-76220400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:76208800-76231400	Weak transcription	A549	lung
18	chr1:76208800-76231400	Weak transcription	NHEK	skin
19	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
20	chr1:76209000-76220200	Weak transcription	Fetal Kidney	kidney
21	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
22	chr1:76209000-76230800	Weak transcription	NHLF	lung
23	chr1:76209400-76220400	Weak transcription	Colonic Mucosa	Colon
24	chr1:76210200-76220200	Weak transcription	Right Ventricle	heart
25	chr1:76210200-76220400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:76210200-76223000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
28	chr1:76210400-76219600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:76210400-76219600	Weak transcription	Aorta	Aorta
30	chr1:76210400-76220200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:76210400-76220200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:76210600-76220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:76210600-76220200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:76210600-76220400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:76210600-76220400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:76210600-76220400	Weak transcription	Esophagus	oesophagus
37	chr1:76211200-76220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:76211600-76220200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:76211600-76230800	Weak transcription	HMEC	breast
40	chr1:76213200-76221600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:76214200-76220200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:76214200-76221800	Strong transcription	Adipose Nuclei	Adipose
43	chr1:76214400-76221600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:76215000-76221600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:76215000-76221800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:76215400-76220200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:76215400-76220400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:76215400-76221600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:76215600-76219200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:76215600-76219800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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