Variant report

Variant	nsv1007912
Chromosome Location	chr1:239306209-239410171
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:239347033..239349872-chr1:239353047..239355159,2	K562	blood:
2	chr1:239403598..239406244-chr1:239406380..239408515,2	K562	blood:
3	chr1:239403598..239406244-chr1:239406380..239408515,2	K562	blood:
4	chr1:239347033..239349872-chr1:239353047..239355159,2	K562	blood:
5	chr1:239363057..239365488-chr1:239366388..239369321,2	K562	blood:
6	chr1:239338540..239340402-chr1:239341130..239343187,2	K562	blood:
7	chr1:239409265..239410831-chr1:239413803..239416461,2	K562	blood:
8	chr1:239363057..239365488-chr1:239366388..239369321,2	K562	blood:
9	chr1:239338540..239340402-chr1:239341130..239343187,2	K562	blood:
10	chr1:239378815..239380653-chr1:239386749..239388785,2	K562	blood:
11	chr1:239378815..239380653-chr1:239386749..239388785,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259776	chromatin interactions

Extended variants
information (count: 2305 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553613435	chr1:239306233-239306234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191569968	chr1:239306243-239306244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184389553	chr1:239306259-239306260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571603356	chr1:239306274-239306275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564133144	chr1:239306276-239306277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143006260	chr1:239306277-239306278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115998701	chr1:239306286-239306287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1858175	chr1:239306319-239306320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10925830	chr1:239306325-239306326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556417076	chr1:239306425-239306426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6657123	chr1:239306468-239306469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs541582136	chr1:239306480-239306481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560593456	chr1:239306490-239306491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528064222	chr1:239306505-239306506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546608040	chr1:239306509-239306510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189073037	chr1:239306530-239306531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193266180	chr1:239306557-239306558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7512826	chr1:239306580-239306581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555143416	chr1:239306613-239306614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185392734	chr1:239306617-239306618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537588992	chr1:239306622-239306623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571778401	chr1:239306732-239306733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528478221	chr1:239306736-239306737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567697734	chr1:239306751-239306752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548802721	chr1:239306759-239306760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534995355	chr1:239306845-239306846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16837837	chr1:239306871-239306872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190244841	chr1:239306886-239306887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200480540	chr1:239306981-239306982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545334179	chr1:239307008-239307009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6429129	chr1:239307013-239307014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575426804	chr1:239307021-239307022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542350851	chr1:239307035-239307036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116993169	chr1:239307062-239307063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369941169	chr1:239307082-239307083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146150632	chr1:239307118-239307119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181543872	chr1:239307208-239307209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564685840	chr1:239307213-239307214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75993059	chr1:239307224-239307225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7522058	chr1:239307234-239307235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371099216	chr1:239307236-239307237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563967381	chr1:239307248-239307249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60145385	chr1:239307257-239307258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529618506	chr1:239307263-239307264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549525426	chr1:239307280-239307281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185627373	chr1:239307340-239307341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534772286	chr1:239307346-239307347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188480120	chr1:239307363-239307364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370255900	chr1:239307376-239307377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571501433	chr1:239307401-239307402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239305800-239306800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:239305800-239306800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:239306000-239306400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:239306000-239306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:239306000-239307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:239306400-239313600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:239306800-239310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:239306800-239311400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:239307000-239310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:239310200-239312000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:239311200-239311400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:239311400-239312000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:239311400-239313600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:239312000-239313600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:239312000-239313600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:239313600-239314000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:239313600-239314000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:239313600-239314000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:239313600-239314000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:239313600-239314200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:239313600-239314200	Enhancers	Fetal Intestine Large	intestine
22	chr1:239313600-239314400	Enhancers	Fetal Intestine Small	intestine
23	chr1:239313800-239314200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:239318200-239319200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:239318200-239319200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:239318800-239319200	Enhancers	Fetal Brain Female	brain
27	chr1:239318800-239319200	Enhancers	Fetal Kidney	kidney
28	chr1:239318800-239319200	Enhancers	Ovary	ovary
29	chr1:239318800-239319600	Enhancers	Fetal Stomach	stomach
30	chr1:239327400-239328000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:239327400-239328200	Enhancers	HMEC	breast
32	chr1:239327600-239328000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:239330800-239333400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:239331000-239331200	ZNF genes & repeats	Liver	Liver
35	chr1:239331000-239331200	Active TSS	Fetal Muscle Trunk	muscle
36	chr1:239331200-239341800	Weak transcription	Liver	Liver
37	chr1:239336000-239336600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:239339200-239339400	Enhancers	Colon Smooth Muscle	Colon
39	chr1:239339400-239341400	Weak transcription	Colon Smooth Muscle	Colon
40	chr1:239340200-239340400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:239340400-239341400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:239341200-239342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:239341400-239341600	Enhancers	Colon Smooth Muscle	Colon
44	chr1:239341400-239342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:239341600-239342000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:239341800-239342800	Enhancers	Liver	Liver
47	chr1:239342000-239342400	Enhancers	Colon Smooth Muscle	Colon
48	chr1:239342000-239342400	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:239342000-239342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:239342800-239347000	Weak transcription	Liver	Liver

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