Variant report

Variant	nsv945432
Chromosome Location	chr1:247002867-247004177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246999464..247001183-chr1:247004017..247007456,3	MCF-7	breast:
2	chr1:247001934..247004833-chr1:247007258..247009999,3	K562	blood:
3	chr1:246991725..246994648-chr1:247001780..247004599,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AHCTF1	hsa-let-7b-5p	chr1:247003548-247003541
2	AHCTF1	hsa-let-7b-5p	chr1:247003542-247003563

Variant related genes	Relation type
ENSG00000223519	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 81 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536283277	chr1:247002910-247002911	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552929147	chr1:247002972-247002973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573079808	chr1:247002983-247002984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553570105	chr1:247003000-247003001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545256461	chr1:247003001-247003002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146740751	chr1:247003010-247003011	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375479517	chr1:247003014-247003015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181261627	chr1:247003019-247003020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184882761	chr1:247003041-247003042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200254086	chr1:247003055-247003056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373708166	chr1:247003056-247003057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544414828	chr1:247003065-247003066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561003895	chr1:247003110-247003111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529797292	chr1:247003125-247003126	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540258721	chr1:247003128-247003129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560065741	chr1:247003149-247003150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189746436	chr1:247003174-247003175	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552004315	chr1:247003192-247003193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149732454	chr1:247003203-247003204	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531177375	chr1:247003227-247003228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183822958	chr1:247003255-247003256	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567451599	chr1:247003268-247003269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187665741	chr1:247003293-247003294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs56280494	chr1:247003296-247003297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191491397	chr1:247003303-247003304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374271779	chr1:247003316-247003317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566820563	chr1:247003330-247003331	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145568373	chr1:247003371-247003372	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs12733729	chr1:247003398-247003399	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116721005	chr1:247003409-247003410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs183540050	chr1:247003422-247003423	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544452497	chr1:247003431-247003432	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12733852	chr1:247003438-247003439	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554782185	chr1:247003472-247003473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543098808	chr1:247003481-247003482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574605860	chr1:247003492-247003493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540295293	chr1:247003493-247003494	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559896963	chr1:247003497-247003498	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532179526	chr1:247003554-247003555	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
40	rs561366581	chr1:247003716-247003717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565606579	chr1:247003893-247003894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187592476	chr1:247003976-247003977	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550785866	chr1:247004000-247004001	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1047085	chr1:247004023-247004024	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1047080	chr1:247004031-247004032	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530145691	chr1:247004058-247004059	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111550056	chr1:247004077-247004078	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370639205	chr1:247004125-247004126	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547022079	chr1:247004172-247004173	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs374006698	chr1:247004175-247004176	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
2	chr1:246993200-247004200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:246994800-247003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:246995400-247004200	Weak transcription	HUVEC	blood vessel
5	chr1:246998800-247004200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:246999200-247004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:246999200-247010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:246999400-247004000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:246999400-247004200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:246999600-247004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:246999600-247004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:246999800-247004400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:246999800-247004400	Weak transcription	Hela-S3	cervix
14	chr1:246999800-247005600	Weak transcription	Ovary	ovary
15	chr1:246999800-247007600	Weak transcription	Right Ventricle	heart
16	chr1:247000200-247004000	Weak transcription	Osteobl	bone
17	chr1:247000200-247004200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:247000200-247004200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:247000200-247004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:247000200-247004400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
22	chr1:247000600-247003000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:247000600-247003200	Weak transcription	Fetal Thymus	thymus
24	chr1:247000600-247003400	Weak transcription	Dnd41	blood
25	chr1:247000600-247004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:247000600-247004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:247000600-247007800	Weak transcription	Fetal Brain Female	brain
28	chr1:247000800-247004400	Weak transcription	Left Ventricle	heart
29	chr1:247000800-247004600	Weak transcription	Primary B cells from cord blood	blood
30	chr1:247001000-247004200	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:247001000-247006200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:247001200-247004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:247001200-247004000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:247001200-247004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:247001200-247004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:247001400-247003200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:247001400-247004000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:247001400-247004200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:247001400-247004200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:247001400-247004200	Weak transcription	NHDF-Ad	bronchial
41	chr1:247001400-247004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:247001400-247004400	Weak transcription	Brain Angular Gyrus	brain
43	chr1:247001400-247012000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:247001600-247003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:247001600-247004200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:247001600-247004200	Weak transcription	A549	lung
49	chr1:247001600-247004400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:247001600-247004400	Weak transcription	GM12878-XiMat	blood

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