Variant report

Variant	esv3380494
Chromosome Location	chr1:113654228-113654736
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	chr1:113640813..113642683-chr1:113654353..113656169,2	MCF-7	breast:
2	chr1:113646559..113648426-chr1:113653235..113655609,2	K562	blood:

Variant related genes	Relation type
ENSG00000198799	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 100 )

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	rs371013208	chr1:113654239-113654240	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371021472	chr1:113654330-113654331	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74114116	chr1:113654358-113654359	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535153520	chr1:113654370-113654371	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34691317	chr1:113654389-113654390	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193033744	chr1:113654396-113654397	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577961009	chr1:113654488-113654489	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12037402	chr1:113654535-113654536	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543647811	chr1:113654565-113654566	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150415254	chr1:113654617-113654618	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111545977	chr1:113654649-113654650	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559333208	chr1:113654694-113654695	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138134456	chr1:113654710-113654711	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199511945	chr1:113654724-113654725	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200567294	chr1:113654725-113654726	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201783319	chr1:113654727-113654728	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199781039	chr1:113654729-113654730	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs397729952	chr1:113654730-113654731	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113631800-113666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:113633600-113672600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:113633800-113670000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:113633800-113672600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:113634200-113655200	Strong transcription	Hela-S3	cervix
6	chr1:113634200-113656000	Strong transcription	Dnd41	blood
7	chr1:113634200-113669800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:113634200-113669800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr1:113634200-113670000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:113634200-113671400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:113634200-113673000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113634400-113655600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:113634400-113672600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:113634600-113655600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:113634600-113655600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:113634600-113666600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:113634600-113669800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:113634600-113669800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:113634600-113669800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:113634600-113670000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:113634600-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:113634600-113671600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:113634600-113673000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:113635000-113666800	Strong transcription	Liver	Liver
25	chr1:113635000-113669600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:113635800-113655800	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:113635800-113666600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:113635800-113669800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:113636000-113655600	Strong transcription	Primary T cells from cord blood	blood
30	chr1:113636000-113655600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:113636000-113655800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:113636000-113662800	Strong transcription	HMEC	breast
33	chr1:113636000-113666800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:113636000-113669800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr1:113636000-113671200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:113636000-113671400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:113636000-113671400	Strong transcription	Fetal Thymus	thymus
38	chr1:113636000-113671600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:113636200-113669600	Strong transcription	Fetal Intestine Large	intestine
40	chr1:113636400-113662600	Strong transcription	K562	blood
41	chr1:113636400-113666800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:113636400-113669800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:113636400-113670000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr1:113636600-113655800	Strong transcription	Primary B cells from cord blood	blood
45	chr1:113636600-113656000	Strong transcription	HUVEC	blood vessel
46	chr1:113638400-113667400	Strong transcription	HepG2	liver
47	chr1:113639200-113669600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:113641200-113669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:113643600-113655400	Strong transcription	Fetal Stomach	stomach
50	chr1:113643600-113670000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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