Variant report

Variant	esv3492569
Chromosome Location	chr1:84387614-84389912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84385110..84388032-chr1:84402549..84404103,2	K562	blood:
2	chr1:84387778..84389882-chr1:84541236..84543359,2	K562	blood:
3	chr1:84388469..84390002-chr1:84396047..84397947,2	K562	blood:
4	chr1:84385279..84387744-chr1:85097097..85100011,2	K562	blood:

Variant related genes	Relation type
ENSG00000180869	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557528245	chr1:84387624-84387625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10465746	chr1:84387632-84387633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
3	rs546358841	chr1:84387684-84387685	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147086023	chr1:84387801-84387802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368681482	chr1:84387806-84387807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113545614	chr1:84387809-84387810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532338095	chr1:84387817-84387818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12139191	chr1:84387871-84387872	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530663875	chr1:84387875-84387876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550673160	chr1:84387887-84387888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377564510	chr1:84387921-84387922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76577129	chr1:84388007-84388008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537463887	chr1:84388010-84388011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557286959	chr1:84388074-84388075	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10493741	chr1:84388118-84388119	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536779549	chr1:84388135-84388136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553185277	chr1:84388144-84388145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143902951	chr1:84388249-84388250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192326503	chr1:84388275-84388276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369309096	chr1:84388292-84388293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558825107	chr1:84388335-84388336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369156599	chr1:84388343-84388344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368069066	chr1:84388344-84388345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544564148	chr1:84388364-84388365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560969713	chr1:84388405-84388406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529656653	chr1:84388407-84388408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556393353	chr1:84388427-84388428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372337867	chr1:84388428-84388429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372015477	chr1:84388558-84388559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540364897	chr1:84388598-84388599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559952142	chr1:84388600-84388601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532351193	chr1:84388601-84388602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34190625	chr1:84388602-84388603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536641710	chr1:84388608-84388609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569188786	chr1:84388708-84388709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12142921	chr1:84388735-84388736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368341920	chr1:84388786-84388787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548166425	chr1:84388809-84388810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187913657	chr1:84388814-84388815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560809133	chr1:84388827-84388828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536239804	chr1:84388878-84388879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113771333	chr1:84388917-84388918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147264214	chr1:84388918-84388919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566577545	chr1:84388941-84388942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538866477	chr1:84388978-84388979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374769221	chr1:84388993-84388994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575412755	chr1:84389009-84389010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201857085	chr1:84389048-84389049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192080291	chr1:84389052-84389053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138819344	chr1:84389062-84389063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84351000-84391400	Weak transcription	Fetal Stomach	stomach
2	chr1:84362600-84403200	Weak transcription	Fetal Brain Male	brain
3	chr1:84366400-84392800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:84366800-84399400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:84368000-84390000	Weak transcription	NH-A	brain
6	chr1:84368000-84394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:84368200-84393400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:84368200-84393800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:84368200-84394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:84368400-84416600	Weak transcription	NHLF	lung
11	chr1:84368400-84428400	Weak transcription	Pancreas	Pancrea
12	chr1:84374200-84393000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:84376200-84392800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:84376800-84405000	Weak transcription	Left Ventricle	heart
15	chr1:84378600-84390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:84380800-84387800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:84380800-84392200	Weak transcription	NHEK	skin
18	chr1:84381000-84393400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:84381000-84394800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:84381000-84397400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:84381200-84390000	Weak transcription	Psoas Muscle	Psoas
22	chr1:84382600-84409800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:84383200-84393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:84383200-84408600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:84383400-84391000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:84384800-84388800	Strong transcription	HSMM	muscle
27	chr1:84384800-84406600	Weak transcription	Aorta	Aorta
28	chr1:84385000-84392200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:84385000-84392400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:84385000-84392800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:84385000-84393200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:84385200-84390000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:84385200-84408600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:84386200-84393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:84386200-84397800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:84386400-84388000	Weak transcription	Gastric	stomach
37	chr1:84386600-84391000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:84386600-84392800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:84386600-84392800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:84386600-84401600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:84386800-84389000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:84386800-84390000	Weak transcription	K562	blood
43	chr1:84386800-84392000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:84386800-84398400	Weak transcription	HSMMtube	muscle
45	chr1:84386800-84398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:84386800-84403200	Weak transcription	NHDF-Ad	bronchial
47	chr1:84387000-84389600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:84387000-84408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:84387000-84408400	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:84387000-84410000	Weak transcription	Brain Germinal Matrix	brain

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