Variant report

Variant	nsv517510
Chromosome Location	chr1:245847034-245863222
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:245844891..245847833-chr1:245848844..245850567,2	K562	blood:
2	chr1:245858443..245860867-chr1:245862214..245864616,2	K562	blood:
3	chr1:245842274..245845085-chr1:245848041..245849884,2	MCF-7	breast:
4	chr1:245858443..245860867-chr1:245862214..245864616,2	K562	blood:
5	chr1:245844891..245847833-chr1:245848844..245850567,2	K562	blood:
6	chr1:245852443..245854244-chr1:245855719..245857543,2	K562	blood:
7	chr1:245842185..245843707-chr1:245845104..245847770,2	K562	blood:
8	chr1:245854319..245857030-chr1:245862455..245865017,2	K562	blood:
9	chr1:245854319..245856762-chr1:245863517..245865541,2	K562	blood:
10	chr1:245850061..245852955-chr1:245853141..245854797,2	K562	blood:
11	chr1:245848290..245848810-chr6:160211092..160212029,2	HCT-116	colon:
12	chr1:245854319..245857030-chr1:245862455..245865017,2	K562	blood:
13	chr1:245850061..245852955-chr1:245853141..245854797,2	K562	blood:
14	chr1:245852443..245854244-chr1:245855719..245857543,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112110	chromatin interactions

Extended variants
information (count: 882 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:882 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10924303	chr1:245847034-245847035	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531189950	chr1:245847035-245847036	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541760891	chr1:245847037-245847038	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs144930318	chr1:245847064-245847065	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114778429	chr1:245847078-245847079	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529019532	chr1:245847080-245847081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547578154	chr1:245847084-245847085	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570519573	chr1:245847091-245847092	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149068844	chr1:245847098-245847099	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10924304	chr1:245847148-245847149	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs56105914	chr1:245847176-245847177	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539019769	chr1:245847246-245847247	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs113948768	chr1:245847258-245847259	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs571544090	chr1:245847282-245847283	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs184802161	chr1:245847314-245847315	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs568782785	chr1:245847321-245847322	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs116384676	chr1:245847356-245847357	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569575913	chr1:245847362-245847363	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs138553148	chr1:245847367-245847368	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536854355	chr1:245847427-245847428	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs72764846	chr1:245847455-245847456	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188680496	chr1:245847456-245847457	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs141844072	chr1:245847471-245847472	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs199909341	chr1:245847492-245847493	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs376138957	chr1:245847497-245847498	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs117449454	chr1:245847498-245847499	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs200387540	chr1:245847502-245847503	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs375751511	chr1:245847529-245847530	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs370466424	chr1:245847547-245847548	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs373588212	chr1:245847587-245847588	Strong transcription Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs371049250	chr1:245847601-245847602	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368863207	chr1:245847608-245847609	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202021071	chr1:245847610-245847611	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367710087	chr1:245847614-245847615	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532973058	chr1:245847616-245847617	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199561730	chr1:245847617-245847618	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145521032	chr1:245847618-245847619	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201075952	chr1:245847619-245847620	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61831276	chr1:245847622-245847623	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368259033	chr1:245847623-245847624	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180720216	chr1:245847624-245847625	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368623828	chr1:245847632-245847633	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148065443	chr1:245847634-245847635	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568439715	chr1:245847664-245847665	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376897083	chr1:245847676-245847677	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200712901	chr1:245847693-245847694	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13375765	chr1:245847708-245847709	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113843114	chr1:245847709-245847710	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376290056	chr1:245847710-245847711	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149909437	chr1:245847716-245847717	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	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
Breast cancer	21858162	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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245815200-245848400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:245831200-245847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:245835600-245848400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:245836000-245848400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:245839800-245849600	Weak transcription	Gastric	stomach
6	chr1:245841000-245848000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:245841400-245856200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:245842400-245847800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:245843200-245851200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:245844200-245851000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:245844200-245870400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:245846000-245847400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:245846000-245848400	Enhancers	Fetal Lung	lung
14	chr1:245846200-245847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:245846200-245847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:245846200-245847200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:245846200-245847400	Enhancers	Fetal Brain Female	brain
18	chr1:245846200-245847600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:245846200-245847600	Enhancers	Adipose Nuclei	Adipose
20	chr1:245846200-245847600	Enhancers	Fetal Stomach	stomach
21	chr1:245846200-245847600	Enhancers	Fetal Thymus	thymus
22	chr1:245846200-245847600	Enhancers	Left Ventricle	heart
23	chr1:245846200-245848400	Enhancers	Fetal Muscle Leg	muscle
24	chr1:245846200-245848600	Enhancers	Fetal Brain Male	brain
25	chr1:245846400-245847200	Enhancers	Fetal Intestine Small	intestine
26	chr1:245846400-245847200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:245846400-245847600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr1:245846400-245847600	Enhancers	Placenta	Placenta
29	chr1:245846400-245848400	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:245846400-245848800	Enhancers	Right Ventricle	heart
31	chr1:245846600-245847200	Enhancers	Fetal Intestine Large	intestine
32	chr1:245846600-245847600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:245846600-245848000	Enhancers	Brain Germinal Matrix	brain
34	chr1:245846600-245854200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:245846800-245848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:245847000-245847200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:245847000-245847200	Flanking Active TSS	Fetal Heart	heart
38	chr1:245847000-245847600	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:245847000-245849800	Weak transcription	Right Atrium	heart
40	chr1:245847000-245851000	Weak transcription	NHLF	lung
41	chr1:245847200-245848200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:245847200-245848400	Weak transcription	Fetal Intestine Large	intestine
43	chr1:245847200-245848600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:245847200-245848600	Enhancers	Fetal Heart	heart
45	chr1:245847200-245848600	Weak transcription	Fetal Intestine Small	intestine
46	chr1:245847400-245847800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:245847400-245848600	Weak transcription	Fetal Brain Female	brain
48	chr1:245847400-245852400	Weak transcription	Lung	lung
49	chr1:245847400-245855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:245847600-245848200	Weak transcription	Placenta	Placenta

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