Variant report

Variant	nsv933318
Chromosome Location	chr1:225589995-225590864
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:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:18)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225588103..225590846-chr1:225628088..225629720,2	K562	blood:
2	chr1:225590339..225593004-chr1:225614495..225616348,2	MCF-7	breast:

No data

(count:18 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LBR	hsa-miR-340-5p	chr1:225589992-225590013
2	LBR	hsa-miR-181a-5p	chr1:225590337-225590331
3	LBR	hsa-miR-19b-3p	chr1:225590142-225590168
4	LBR	hsa-miR-23b-3p	chr1:225590335-225590329
5	LBR	hsa-miR-23b-3p	chr1:225590259-225590252
6	LBR	hsa-miR-421	chr1:225590103-225590123
7	LBR	hsa-let-7b-5p	chr1:225590145-225590138
8	LBR	hsa-miR-196a-5p	chr1:225590140-225590161
9	LBR	hsa-miR-101-3p	chr1:225590707-225590727
10	LBR	hsa-let-7b-5p	chr1:225590139-225590161
11	LBR	hsa-let-7d-5p	chr1:225590145-225590138
12	LBR	hsa-miR-181a-5p	chr1:225590331-225590356
13	LBR	hsa-miR-27a-3p	chr1:225590705-225590725
14	LBR	hsa-let-7d-5p	chr1:225590139-225590161
15	LBR	hsa-miR-340-5p	chr1:225590118-225590111
16	LBR	hsa-miR-23b-3p	chr1:225590253-225590273
17	LBR	hsa-miR-340-5p	chr1:225590112-225590134
18	LBR	hsa-miR-23b-3p	chr1:225590329-225590348

Variant related genes	Relation type
ENSG00000143815	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574777323	chr1:225590000-225590001	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
2	rs146434391	chr1:225590032-225590033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557222889	chr1:225590033-225590034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115448388	chr1:225590061-225590062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114577052	chr1:225590146-225590147	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
6	rs541475300	chr1:225590204-225590205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573448057	chr1:225590215-225590216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75904736	chr1:225590236-225590237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115463653	chr1:225590284-225590285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80028106	chr1:225590349-225590350	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
11	rs544921637	chr1:225590370-225590371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565044223	chr1:225590388-225590389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572258776	chr1:225590423-225590424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562482402	chr1:225590532-225590533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs16844841	chr1:225590675-225590676	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
16	rs11551874	chr1:225590750-225590751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113990759	chr1:225590810-225590811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566349300	chr1:225590837-225590838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533725816	chr1:225590863-225590864	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute lymphoblastic leukemia	21098271	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
Developmental delay	21147756	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

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225568200-225595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:225570800-225600000	Weak transcription	HSMMtube	muscle
3	chr1:225576200-225594400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:225578000-225597800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:225578000-225599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:225580800-225599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:225581400-225592600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:225581600-225596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:225581800-225590800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:225582000-225597800	Weak transcription	Brain Anterior Caudate	brain
11	chr1:225582200-225591600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:225582200-225591800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
14	chr1:225582600-225592400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:225582600-225597800	Weak transcription	Fetal Brain Male	brain
16	chr1:225583200-225594000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:225583200-225597800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:225583400-225591400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr1:225583400-225595400	Strong transcription	Fetal Brain Female	brain
20	chr1:225583400-225598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:225583400-225601600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:225583400-225601600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:225583400-225601800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:225583600-225597800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:225583600-225602200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:225583800-225597800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:225583800-225601600	Strong transcription	Primary B cells from cord blood	blood
28	chr1:225584000-225603800	Weak transcription	Psoas Muscle	Psoas
29	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:225584400-225600600	Weak transcription	Stomach Mucosa	stomach
31	chr1:225584800-225595000	Strong transcription	Fetal Intestine Large	intestine
32	chr1:225584800-225609800	Strong transcription	Dnd41	blood
33	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:225585000-225593000	Strong transcription	NHEK	skin
35	chr1:225585000-225595600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:225585000-225595600	Strong transcription	Adipose Nuclei	Adipose
37	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:225585200-225595000	Strong transcription	HMEC	breast
42	chr1:225585200-225596000	Strong transcription	Liver	Liver
43	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:225585400-225591400	Weak transcription	Gastric	stomach
45	chr1:225585400-225592000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:225585400-225594400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:225585600-225591000	Weak transcription	Esophagus	oesophagus
48	chr1:225585600-225593000	Weak transcription	Pancreas	Pancrea
49	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:225585800-225610000	Strong transcription	K562	blood

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