Variant report

Variant	esv3428287
Chromosome Location	chr1:228613604-228613976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228353096..228354983-chr1:228611648..228613946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181873	chromatin interactions
ENSG00000203684	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1188476	chr1:228613623-228613624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561148495	chr1:228613628-228613629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12126782	chr1:228613648-228613649	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550105670	chr1:228613653-228613654	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563497338	chr1:228613654-228613655	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148217256	chr1:228613655-228613656	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs372290476	chr1:228613674-228613675	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs35088495	chr1:228613717-228613718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386369894	chr1:228613718-228613719	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369235487	chr1:228613735-228613736	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552363337	chr1:228613763-228613764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141188758	chr1:228613767-228613768	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528663614	chr1:228613779-228613780	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548415282	chr1:228613780-228613781	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111582629	chr1:228613803-228613804	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs1188477	chr1:228613811-228613812	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537300497	chr1:228613818-228613819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544338691	chr1:228613931-228613932	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545670850	chr1:228613941-228613942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557240357	chr1:228613942-228613943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183896280	chr1:228613962-228613963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538649408	chr1:228613963-228613964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558345290	chr1:228613966-228613967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572137580	chr1:228613967-228613968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228596400-228615400	Weak transcription	A549	lung
2	chr1:228606000-228614000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:228606000-228615800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:228610600-228620400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:228612200-228614200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:228612400-228615600	Weak transcription	HepG2	liver
7	chr1:228612600-228614000	Weak transcription	K562	blood
8	chr1:228612800-228616600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:228613000-228621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:228613200-228614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:228613200-228616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:228613200-228617000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:228613400-228614400	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links