Variant report

Variant	esv3443546
Chromosome Location	chr1:228496329-228499627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228496309..228499192-chr1:228555480..228557444,2	K562	blood:
2	chr1:228497541..228499264-chr1:228512693..228514820,2	K562	blood:
3	chr1:228469235..228472192-chr1:228496971..228498907,2	K562	blood:
4	chr1:228463216..228465518-chr1:228498309..228499988,2	MCF-7	breast:
5	chr1:228499607..228502082-chr1:228504581..228506984,2	K562	blood:
6	chr1:228498813..228501348-chr1:228591046..228593964,2	K562	blood:
7	chr1:228478007..228479882-chr1:228496613..228498200,2	K562	blood:
8	chr1:228496775..228499058-chr1:228500948..228504784,4	K562	blood:
9	chr1:228486263..228491087-chr1:228497719..228501916,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270110	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000269934	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12036485	chr1:228496342-228496343	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75512716	chr1:228496407-228496408	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557152736	chr1:228496443-228496444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540869374	chr1:228496484-228496485	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539735983	chr1:228496489-228496490	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560665876	chr1:228496515-228496516	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189215106	chr1:228496518-228496519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542176811	chr1:228496574-228496575	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180758830	chr1:228496646-228496647	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142156126	chr1:228496679-228496680	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544301110	chr1:228496730-228496731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151285998	chr1:228496753-228496754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533391967	chr1:228496754-228496755	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540557694	chr1:228496757-228496758	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375026195	chr1:228496764-228496765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369131153	chr1:228496765-228496766	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560871304	chr1:228496775-228496776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372723564	chr1:228496789-228496790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529583811	chr1:228496822-228496823	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548135877	chr1:228496831-228496832	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568072666	chr1:228496832-228496833	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560506912	chr1:228496835-228496836	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111731636	chr1:228496855-228496856	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199958693	chr1:228496874-228496875	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369768893	chr1:228496879-228496880	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1684865	chr1:228496902-228496903	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs520479	chr1:228496903-228496904	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202109997	chr1:228496905-228496906	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550735822	chr1:228496914-228496915	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570644017	chr1:228496931-228496932	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117567176	chr1:228496958-228496959	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377623439	chr1:228496976-228496977	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371047288	chr1:228496981-228496982	Active TSS Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373649755	chr1:228497024-228497025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552913042	chr1:228497031-228497032	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566723502	chr1:228497039-228497040	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs379620	chr1:228497053-228497054	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555684032	chr1:228497066-228497067	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562763726	chr1:228497081-228497082	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531687062	chr1:228497088-228497089	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575279064	chr1:228497138-228497139	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544293247	chr1:228497141-228497142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557867755	chr1:228497147-228497148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372281515	chr1:228497153-228497154	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144247544	chr1:228497176-228497177	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200324593	chr1:228497189-228497190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1318283	chr1:228497215-228497216	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370387618	chr1:228497229-228497230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373558327	chr1:228497231-228497232	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55808952	chr1:228497255-228497256	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228465000-228498000	Weak transcription	Fetal Brain Male	brain
2	chr1:228487200-228504600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:228490400-228500800	Strong transcription	Right Ventricle	heart
4	chr1:228490600-228500200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr1:228490800-228498000	Weak transcription	Dnd41	blood
6	chr1:228490800-228500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:228490800-228506800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:228491000-228497800	Weak transcription	Fetal Kidney	kidney
9	chr1:228491000-228498400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:228491000-228499200	Weak transcription	Right Atrium	heart
11	chr1:228491000-228499800	Weak transcription	Pancreas	Pancrea
12	chr1:228491200-228496800	Weak transcription	Psoas Muscle	Psoas
13	chr1:228491200-228497800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:228491200-228499400	Weak transcription	Thymus	Thymus
15	chr1:228491400-228496400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:228491400-228498400	Weak transcription	Ovary	ovary
17	chr1:228491600-228498600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:228491600-228498600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:228491600-228505800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:228491800-228498200	Weak transcription	Brain Germinal Matrix	brain
21	chr1:228491800-228499400	Weak transcription	Gastric	stomach
22	chr1:228492000-228497800	Weak transcription	Fetal Heart	heart
23	chr1:228492000-228498000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:228492000-228499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:228492200-228497200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:228492200-228498800	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:228492200-228499000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:228492200-228503800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:228492400-228496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:228492400-228497600	Weak transcription	Primary T cells from cord blood	blood
31	chr1:228492400-228497600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:228492400-228497800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:228492400-228499000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:228492600-228497600	Weak transcription	Fetal Lung	lung
35	chr1:228492600-228499600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:228492800-228499600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:228493200-228499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:228493400-228497600	Weak transcription	HSMMtube	muscle
39	chr1:228493400-228497800	Weak transcription	Brain Anterior Caudate	brain
40	chr1:228493600-228497000	Weak transcription	Fetal Brain Female	brain
41	chr1:228494800-228498600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:228495800-228499400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:228496200-228496600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:228496200-228497200	Strong transcription	Left Ventricle	heart
45	chr1:228496200-228497800	Strong transcription	Fetal Stomach	stomach
46	chr1:228496200-228499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:228496400-228500000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:228496600-228499600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:228496800-228497000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:228496800-228497600	Strong transcription	Psoas Muscle	Psoas

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