Variant report

Variant	esv1820274
Chromosome Location	chr1:174782523-174802731
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174790254..174793205-chr1:174795715..174797901,2	K562	blood:
2	chr1:174802465..174804337-chr1:174807941..174810779,2	MCF-7	breast:
3	chr1:174790254..174793205-chr1:174795715..174797901,2	K562	blood:
4	chr1:174132422..174134111-chr1:174800626..174802567,2	K562	blood:
5	chr1:174775809..174777668-chr1:174781118..174782806,2	K562	blood:
6	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
7	chr1:174784763..174785588-chr2:221356052..221356647,2	MCF-7	breast:
8	chr1:174798481..174800550-chr1:174807771..174810609,2	MCF-7	breast:
9	chr1:174780849..174783447-chr1:174946547..174949179,2	K562	blood:
10	chr1:174790148..174791754-chr1:174795715..174797239,2	K562	blood:
11	chr1:174793359..174795191-chr1:174840553..174843195,2	MCF-7	breast:
12	chr1:174780388..174782499-chr1:174789949..174791564,2	MCF-7	breast:
13	chr1:174801846..174803721-chr1:174966290..174968763,2	K562	blood:
14	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
15	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:
16	chr1:174790148..174791754-chr1:174795715..174797239,2	K562	blood:
17	chr1:174768938..174770778-chr1:174801849..174804479,2	K562	blood:
18	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:
19	chr1:174787266..174788950-chr1:174846455..174848064,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000116161	chromatin interactions

Extended variants
information (count: 668 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:668 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs989423	chr1:174782523-174782524	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148653382	chr1:174782524-174782525	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373847010	chr1:174782535-174782536	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141259655	chr1:174782541-174782542	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182772960	chr1:174782604-174782605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550371009	chr1:174782609-174782610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112309393	chr1:174782640-174782641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs989424	chr1:174782641-174782642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545502420	chr1:174782676-174782677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532792648	chr1:174782688-174782689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150783837	chr1:174782711-174782712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552174756	chr1:174782807-174782808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570477399	chr1:174782810-174782811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533738178	chr1:174782821-174782822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138073804	chr1:174782837-174782838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114815699	chr1:174782936-174782937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139194655	chr1:174782946-174782947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532949435	chr1:174782991-174782992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144164509	chr1:174782999-174783000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187460128	chr1:174783096-174783097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549669613	chr1:174783167-174783168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79361551	chr1:174783176-174783177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544923592	chr1:174783191-174783192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146539032	chr1:174783211-174783212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192643335	chr1:174783221-174783222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183398625	chr1:174783293-174783294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563217056	chr1:174783317-174783318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573216172	chr1:174783338-174783339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561149113	chr1:174783353-174783354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542044028	chr1:174783373-174783374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528898815	chr1:174783378-174783379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530147215	chr1:174783434-174783435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544116737	chr1:174783452-174783453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564015420	chr1:174783467-174783468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187560360	chr1:174783471-174783472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192803982	chr1:174783529-174783530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571285433	chr1:174783530-174783531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548999870	chr1:174783546-174783547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527416412	chr1:174783621-174783622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140033333	chr1:174783626-174783627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183776850	chr1:174783638-174783639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566906777	chr1:174783724-174783725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377205189	chr1:174783741-174783742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535885250	chr1:174783747-174783748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549663126	chr1:174783756-174783757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569617442	chr1:174783768-174783769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549380377	chr1:174783839-174783840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370445261	chr1:174783850-174783851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370537614	chr1:174783851-174783852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145763993	chr1:174783859-174783860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Intellectual disability	22102821	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
Retinoblastoma	19183342	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
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	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
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174769800-174787600	Weak transcription	Pancreas	Pancrea
2	chr1:174770000-174783000	Weak transcription	Ovary	ovary
3	chr1:174770000-174783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:174770000-174784200	Weak transcription	HSMM	muscle
5	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
6	chr1:174770200-174784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174770200-174788200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:174770400-174784200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:174770400-174784400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:174770800-174783600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:174770800-174786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:174770800-174787600	Weak transcription	Fetal Stomach	stomach
13	chr1:174771600-174787400	Weak transcription	Fetal Brain Male	brain
14	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:174772600-174784200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:174772600-174784400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:174777200-174783000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:174777600-174786000	Weak transcription	Left Ventricle	heart
19	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:174778600-174783800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:174779400-174784400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:174779400-174786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:174779600-174784000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:174779600-174784200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:174780400-174783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:174780600-174783400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:174780600-174783400	Weak transcription	GM12878-XiMat	blood
28	chr1:174780800-174783600	Weak transcription	NHEK	skin
29	chr1:174781200-174782600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:174781200-174782600	Strong transcription	Liver	Liver
31	chr1:174781200-174782600	Enhancers	HepG2	liver
32	chr1:174781600-174782800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:174781600-174784200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:174781800-174782600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:174781800-174783000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:174781800-174787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:174782200-174783200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:174782200-174784200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:174782200-174784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:174782200-174784200	Weak transcription	Small Intestine	intestine
42	chr1:174782200-174784200	Weak transcription	NH-A	brain
43	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:174782400-174783600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:174782400-174784200	Weak transcription	HSMMtube	muscle
47	chr1:174782400-174784200	Weak transcription	NHLF	lung
48	chr1:174782400-174785400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:174782400-174786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:174782400-174786800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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