Variant report

Variant	esv33183
Chromosome Location	chr1:47776231-47777354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47775647..47777674-chr1:47778211..47780700,3	MCF-7	breast:
2	chr1:47768301..47773311-chr1:47776226..47780764,7	K562	blood:
3	chr1:47772551..47781833-chr1:47797933..47806586,42	K562	blood:
4	chr1:47774219..47777127-chr1:47778877..47782618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123473	chromatin interactions
ENSG00000162368	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568286534	chr1:47776307-47776308	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373958219	chr1:47776326-47776327	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs370234748	chr1:47776339-47776340	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12407463	chr1:47776345-47776346	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150633413	chr1:47776361-47776362	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111260582	chr1:47776404-47776405	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566499409	chr1:47776414-47776415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs139893863	chr1:47776431-47776432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572118377	chr1:47776434-47776435	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs200156728	chr1:47776468-47776469	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558539676	chr1:47776488-47776489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs372040177	chr1:47776553-47776554	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs551434007	chr1:47776605-47776606	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538112361	chr1:47776623-47776624	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184905362	chr1:47776665-47776666	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs528382458	chr1:47776709-47776710	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs199563163	chr1:47776725-47776726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs369437051	chr1:47776726-47776727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs551644877	chr1:47776760-47776761	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149391630	chr1:47776767-47776768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542349542	chr1:47776793-47776794	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs76601430	chr1:47776860-47776861	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs147509687	chr1:47776872-47776873	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189863536	chr1:47776902-47776903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571287882	chr1:47776922-47776923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367911660	chr1:47776947-47776948	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs60248293	chr1:47776948-47776949	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs563037601	chr1:47776954-47776955	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145908393	chr1:47776955-47776956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536667689	chr1:47776956-47776957	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550661996	chr1:47777021-47777022	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs56804458	chr1:47777042-47777043	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs531904385	chr1:47777150-47777151	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550039314	chr1:47777179-47777180	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561977575	chr1:47777250-47777251	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529452714	chr1:47777260-47777261	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs115271573	chr1:47777274-47777275	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs3122611	chr1:47777318-47777319	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs533853330	chr1:47777326-47777327	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552225905	chr1:47777331-47777332	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
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
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
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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47714400-47779200	Weak transcription	Small Intestine	intestine
2	chr1:47714600-47778400	Weak transcription	Fetal Heart	heart
3	chr1:47731400-47778000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:47735400-47779000	Weak transcription	Esophagus	oesophagus
5	chr1:47743800-47779200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:47744200-47779000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:47744400-47779000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:47744800-47779000	Weak transcription	HSMMtube	muscle
9	chr1:47746200-47778800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:47746600-47776400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:47746600-47778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47746600-47778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:47746600-47778400	Weak transcription	Fetal Brain Female	brain
14	chr1:47746800-47778800	Weak transcription	Placenta	Placenta
15	chr1:47749600-47777800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:47750000-47779200	Weak transcription	Right Atrium	heart
17	chr1:47755200-47779000	Weak transcription	Primary B cells from cord blood	blood
18	chr1:47755400-47778800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:47763400-47778600	Weak transcription	Adipose Nuclei	Adipose
20	chr1:47763600-47779000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:47763600-47779200	Weak transcription	Fetal Brain Male	brain
22	chr1:47764200-47779000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:47764200-47779000	Weak transcription	Stomach Mucosa	stomach
24	chr1:47765400-47777400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:47765600-47779000	Weak transcription	Brain Anterior Caudate	brain
26	chr1:47765800-47779200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:47766800-47778400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:47767000-47778800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:47767400-47778000	Weak transcription	NHLF	lung
30	chr1:47767400-47778600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:47767400-47778800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:47767400-47779000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:47767800-47779000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr1:47768000-47778200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:47768000-47778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:47768000-47779200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr1:47768200-47778200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:47768200-47778600	Weak transcription	Primary T cells from cord blood	blood
39	chr1:47768400-47778200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:47768400-47778400	Weak transcription	Brain Germinal Matrix	brain
41	chr1:47768400-47778400	Weak transcription	Fetal Kidney	kidney
42	chr1:47768400-47778600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:47768400-47778800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:47768600-47779000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:47768800-47778800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:47769000-47778200	Weak transcription	NHDF-Ad	bronchial
47	chr1:47769400-47778200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:47769400-47778400	Weak transcription	Thymus	Thymus
49	chr1:47770600-47778800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:47770800-47778600	Weak transcription	Fetal Lung	lung

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