Variant report

Variant	esv3342700
Chromosome Location	chr1:45333198-45333769
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	chr1:45333473..45335576-chr1:45395595..45398411,2	K562	blood:
2	chr1:45315991..45318132-chr1:45331699..45334400,2	K562	blood:

Variant related genes	Relation type
ENSG00000253039	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17390398	chr1:45333256-45333257	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74073426	chr1:45333288-45333289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530796096	chr1:45333292-45333293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545484251	chr1:45333293-45333294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552653250	chr1:45333320-45333321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79785477	chr1:45333394-45333395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541826969	chr1:45333493-45333494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7526786	chr1:45333494-45333495	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530400532	chr1:45333495-45333496	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186432318	chr1:45333535-45333536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs61789953	chr1:45333565-45333566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs149388496	chr1:45333569-45333570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113523420	chr1:45333627-45333628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557181624	chr1:45333667-45333668	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17392632	chr1:45333719-45333720	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs138439848	chr1:45333740-45333741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190843354	chr1:45333741-45333742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150095183	chr1:45333751-45333752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45308800-45345400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45309000-45335600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:45309200-45336800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:45309200-45337800	Weak transcription	Psoas Muscle	Psoas
5	chr1:45309200-45343000	Weak transcription	Esophagus	oesophagus
6	chr1:45309200-45345200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:45309400-45338200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:45309400-45339600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:45309400-45340000	Weak transcription	NHLF	lung
11	chr1:45309400-45340400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:45309400-45343000	Weak transcription	Colonic Mucosa	Colon
13	chr1:45309400-45350400	Weak transcription	HUVEC	blood vessel
14	chr1:45309600-45343000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
16	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
17	chr1:45313400-45343600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
19	chr1:45314600-45349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:45315000-45340200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:45315000-45341000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:45315000-45349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:45315200-45345000	Weak transcription	Right Ventricle	heart
24	chr1:45315600-45343000	Weak transcription	Brain Substantia Nigra	brain
25	chr1:45315800-45337600	Weak transcription	HepG2	liver
26	chr1:45316000-45336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:45316000-45337400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:45316000-45341000	Weak transcription	Thymus	Thymus
29	chr1:45316000-45349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:45316600-45351800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:45316800-45340400	Weak transcription	Fetal Lung	lung
32	chr1:45316800-45340600	Weak transcription	Lung	lung
33	chr1:45317200-45334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
35	chr1:45320000-45348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:45321000-45333200	Weak transcription	Fetal Thymus	thymus
37	chr1:45322000-45340200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:45322000-45350400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
40	chr1:45322800-45343400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:45323000-45337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:45323400-45334200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:45323600-45334200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:45323600-45334200	Weak transcription	HSMM	muscle
45	chr1:45323600-45334400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:45323600-45337200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:45323800-45336000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:45324400-45334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:45325000-45337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:45325000-45337600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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