Variant report

Variant	nsv524575
Chromosome Location	chr1:226234883-226242772
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226228777..226230781-chr1:226233649..226235450,2	K562	blood:
2	chr1:226232126..226234237-chr1:226235651..226237839,2	MCF-7	breast:
3	chr1:226235405..226240206-chr1:226241102..226244494,5	MCF-7	breast:
4	chr1:226186881..226188949-chr1:226234409..226236523,2	MCF-7	breast:
5	chr1:226235405..226240206-chr1:226241102..226244494,5	MCF-7	breast:
6	chr1:226234724..226236759-chr1:226248520..226251934,3	MCF-7	breast:
7	chr1:226219248..226223033-chr1:226239868..226243673,3	MCF-7	breast:
8	chr1:226188843..226191078-chr1:226237826..226239830,2	K562	blood:
9	chr1:226195886..226198130-chr1:226234850..226237174,2	K562	blood:
10	chr1:226230974..226235465-chr1:226248759..226251188,4	MCF-7	breast:
11	chr1:226236930..226239875-chr1:226247736..226251554,4	MCF-7	breast:
12	chr1:226220194..226222275-chr1:226233955..226236306,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143751	chromatin interactions
ENSG00000163041	chromatin interactions
ENSG00000272562	chromatin interactions

Extended variants
information (count: 266 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10915924	chr1:226234883-226234884	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377690272	chr1:226234946-226234947	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs546110650	chr1:226235013-226235014	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs564392285	chr1:226235082-226235083	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371105726	chr1:226235105-226235106	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs141033391	chr1:226235154-226235155	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540512522	chr1:226235176-226235177	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562305501	chr1:226235189-226235190	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376803639	chr1:226235264-226235265	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs72757045	chr1:226235289-226235290	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550637570	chr1:226235302-226235303	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs114978126	chr1:226235326-226235327	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532931231	chr1:226235423-226235424	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs551707291	chr1:226235431-226235432	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs375621773	chr1:226235534-226235535	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs184470352	chr1:226235550-226235551	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs373418734	chr1:226235553-226235554	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs534089437	chr1:226235658-226235659	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555300364	chr1:226235673-226235674	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567438333	chr1:226235698-226235699	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs72757046	chr1:226235714-226235715	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs113233952	chr1:226235769-226235770	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs368096433	chr1:226235785-226235786	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs77945038	chr1:226235800-226235801	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs557722586	chr1:226235838-226235839	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs573506142	chr1:226235882-226235883	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs540900843	chr1:226235883-226235884	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369200472	chr1:226235908-226235909	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs574145448	chr1:226235921-226235922	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs544349688	chr1:226235958-226235959	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201154030	chr1:226236021-226236022	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs112590876	chr1:226236033-226236034	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs57990570	chr1:226236036-226236037	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375025136	chr1:226236037-226236038	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562525521	chr1:226236061-226236062	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533048074	chr1:226236065-226236066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551441000	chr1:226236066-226236067	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs560069914	chr1:226236123-226236124	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs189555713	chr1:226236129-226236130	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549225105	chr1:226236155-226236156	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143341085	chr1:226236176-226236177	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs146819307	chr1:226236177-226236178	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs550669585	chr1:226236195-226236196	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs34846056	chr1:226236263-226236264	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569051420	chr1:226236288-226236289	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs567463137	chr1:226236300-226236301	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs114192322	chr1:226236403-226236404	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs144584948	chr1:226236425-226236426	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs557759571	chr1:226236439-226236440	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs116308531	chr1:226236459-226236460	Enhancers Weak transcription	Chromatin interactive region	3 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
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
abnormal development	18461090	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226222400-226242200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:226222600-226241400	Weak transcription	Liver	Liver
3	chr1:226222600-226242600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:226222600-226248600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:226223000-226242000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:226223800-226238400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:226223800-226242400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:226224200-226235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:226225400-226242400	Weak transcription	Fetal Brain Female	brain
10	chr1:226226000-226248000	Weak transcription	Left Ventricle	heart
11	chr1:226228000-226235000	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:226228800-226242200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:226229600-226241800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226229600-226248200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:226229800-226249400	Weak transcription	Spleen	Spleen
16	chr1:226230000-226249200	Weak transcription	Aorta	Aorta
17	chr1:226231000-226241600	Weak transcription	Fetal Thymus	thymus
18	chr1:226231200-226242200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:226231200-226242400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:226231200-226249200	Weak transcription	Pancreas	Pancrea
21	chr1:226232000-226249200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:226232200-226249400	Weak transcription	Gastric	stomach
23	chr1:226232600-226248600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:226232800-226235200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:226232800-226235200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:226232800-226242000	Weak transcription	Thymus	Thymus
27	chr1:226233000-226235000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:226233200-226235200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:226233600-226235000	Enhancers	Fetal Intestine Large	intestine
30	chr1:226233600-226235200	Enhancers	Stomach Mucosa	stomach
31	chr1:226233600-226235200	Enhancers	HepG2	liver
32	chr1:226233600-226235400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:226233600-226235400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:226233600-226235600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:226233600-226235600	Enhancers	Fetal Intestine Small	intestine
36	chr1:226233600-226235600	Enhancers	Osteobl	bone
37	chr1:226233600-226235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:226233800-226235800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:226234000-226235200	Enhancers	NHDF-Ad	bronchial
40	chr1:226234000-226235400	Enhancers	Esophagus	oesophagus
41	chr1:226234200-226235800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:226234400-226235000	Enhancers	Colonic Mucosa	Colon
43	chr1:226234400-226235800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:226234600-226235200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:226234600-226235200	Enhancers	Small Intestine	intestine
46	chr1:226234600-226235800	Enhancers	Ovary	ovary
47	chr1:226234600-226235800	Enhancers	A549	lung
48	chr1:226234600-226235800	Enhancers	K562	blood
49	chr1:226234600-226243400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:226234600-226248000	Weak transcription	Rectal Mucosa Donor 31	rectum

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