Variant report

Variant	esv3334163
Chromosome Location	chr1:180387341-180387740
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	chr1:180382343..180384575-chr1:180387330..180389916,2	MCF-7	breast:
2	chr1:180385266..180387346-chr1:180425240..180427346,2	K562	blood:

Variant related genes	Relation type
ENSG00000135847	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536472397	chr1:180387385-180387386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549967674	chr1:180387420-180387421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376621615	chr1:180387426-180387427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544128621	chr1:180387441-180387442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569776167	chr1:180387475-180387476	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191423219	chr1:180387492-180387493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558310554	chr1:180387529-180387530	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571992955	chr1:180387543-180387544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs367912352	chr1:180387546-180387547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554065618	chr1:180387585-180387586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183208432	chr1:180387588-180387589	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565462793	chr1:180387601-180387602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185658273	chr1:180387622-180387623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556293679	chr1:180387638-180387639	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115105620	chr1:180387641-180387642	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10798764	chr1:180387655-180387656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375517889	chr1:180387663-180387664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545473485	chr1:180387683-180387684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368585181	chr1:180387700-180387701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190756235	chr1:180387717-180387718	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180341200-180401400	Weak transcription	Osteobl	bone
2	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
3	chr1:180352800-180399400	Weak transcription	Fetal Thymus	thymus
4	chr1:180355200-180402600	Weak transcription	HMEC	breast
5	chr1:180355600-180390800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:180356600-180394000	Weak transcription	NHDF-Ad	bronchial
7	chr1:180356800-180406200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:180356800-180407000	Weak transcription	Aorta	Aorta
9	chr1:180360400-180394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:180361400-180407600	Weak transcription	HepG2	liver
11	chr1:180364000-180394200	Weak transcription	HSMMtube	muscle
12	chr1:180364400-180392800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:180364400-180401600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:180364600-180401000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:180364800-180390200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:180365000-180391200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:180365000-180401000	Weak transcription	Ovary	ovary
18	chr1:180365200-180390200	Weak transcription	Brain Angular Gyrus	brain
19	chr1:180365200-180420600	Weak transcription	A549	lung
20	chr1:180365400-180402600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:180366200-180390200	Weak transcription	Fetal Brain Male	brain
22	chr1:180366600-180393600	Weak transcription	NH-A	brain
23	chr1:180366800-180394000	Weak transcription	Fetal Lung	lung
24	chr1:180370600-180391400	Weak transcription	Lung	lung
25	chr1:180371200-180394400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:180374600-180394200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:180374600-180404000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:180374800-180394000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:180374800-180394000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:180376200-180407400	Weak transcription	NHLF	lung
31	chr1:180376800-180395800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:180377000-180394200	Weak transcription	Gastric	stomach
33	chr1:180377800-180390200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:180378800-180388800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:180379000-180430800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:180379400-180393600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:180379400-180394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:180379800-180406000	Weak transcription	Left Ventricle	heart
39	chr1:180380200-180396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:180380400-180391200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:180380400-180401000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:180380400-180408000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:180380800-180388800	Weak transcription	Fetal Intestine Large	intestine
44	chr1:180381200-180391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:180381200-180393400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:180381200-180393600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:180381200-180402800	Weak transcription	NHEK	skin
48	chr1:180381200-180406400	Weak transcription	Fetal Stomach	stomach
49	chr1:180381400-180391400	Weak transcription	Fetal Intestine Small	intestine
50	chr1:180381400-180401000	Weak transcription	HSMM	muscle

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