Variant report

Variant	esv3433680
Chromosome Location	chr1:63191427-63191627
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	chr1:63186584..63188950-chr1:63191033..63193333,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558851212	chr1:63191445-63191446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184290379	chr1:63191493-63191494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369824009	chr1:63191517-63191518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4915624	chr1:63191518-63191519	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs57431225	chr1:63191541-63191542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541781574	chr1:63191553-63191554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs76794398	chr1:63191565-63191566	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4915853	chr1:63191577-63191578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs74526533	chr1:63191618-63191619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549981492	chr1:63191625-63191626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63187200-63191800	Weak transcription	K562	blood
2	chr1:63187200-63195200	Weak transcription	Fetal Stomach	stomach
3	chr1:63187400-63198000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:63188200-63191600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:63188600-63194200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:63189800-63192000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:63189800-63192000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:63189800-63192000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:63189800-63192000	Enhancers	Adipose Nuclei	Adipose
10	chr1:63189800-63192000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:63189800-63192400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:63189800-63193800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:63190000-63192000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:63190000-63192000	Enhancers	Brain Hippocampus Middle	brain
15	chr1:63190000-63192000	Enhancers	Colonic Mucosa	Colon
16	chr1:63190000-63192000	Enhancers	Colon Smooth Muscle	Colon
17	chr1:63190000-63192000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:63190200-63192000	Enhancers	Stomach Mucosa	stomach
19	chr1:63190200-63192200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:63190200-63192200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:63190200-63195800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:63190400-63192000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:63190400-63192000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:63190400-63193600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:63190400-63194800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:63190600-63191800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:63190600-63191800	Enhancers	Small Intestine	intestine
28	chr1:63190600-63192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:63190600-63192000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr1:63190600-63192400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:63190800-63191600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:63190800-63192000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:63190800-63192000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr1:63190800-63192000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:63191000-63191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:63191000-63191600	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:63191000-63191600	Weak transcription	Brain Substantia Nigra	brain
38	chr1:63191000-63191800	Enhancers	Fetal Intestine Small	intestine
39	chr1:63191000-63192000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:63191000-63192000	Enhancers	Liver	Liver
41	chr1:63191000-63192200	Enhancers	HepG2	liver
42	chr1:63191200-63191600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:63191200-63191800	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:63191200-63191800	Flanking Active TSS	Osteobl	bone
45	chr1:63191200-63192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:63191200-63192000	Enhancers	Brain Anterior Caudate	brain
47	chr1:63191200-63193400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:63191200-63194600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:63191200-63194800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:63191400-63191600	Weak transcription	Right Atrium	heart

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