Variant report

Variant	esv3413749
Chromosome Location	chr1:85203614-85205762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85198453..85200236-chr1:85200863..85203809,2	K562	blood:
2	chr1:85145890..85148495-chr1:85203817..85206380,2	K562	blood:
3	chr1:85153604..85156200-chr1:85205472..85208560,3	K562	blood:
4	chr1:85202400..85206310-chr1:85206400..85208590,3	K562	blood:
5	chr1:85203342..85206784-chr1:85207090..85211392,4	K562	blood:
6	chr1:85083746..85086523-chr1:85204168..85206276,2	K562	blood:
7	chr1:85197216..85199232-chr1:85204194..85206731,2	K562	blood:

Variant related genes	Relation type
ENSG00000117155	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186984796	chr1:85203627-85203628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550350057	chr1:85203683-85203684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138569046	chr1:85203712-85203713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529321868	chr1:85203734-85203735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115077310	chr1:85203752-85203753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11805570	chr1:85203780-85203781	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535011133	chr1:85203809-85203810	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs552098825	chr1:85203829-85203830	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs574922724	chr1:85203911-85203912	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571961381	chr1:85203974-85203975	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs537678120	chr1:85204024-85204025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557566761	chr1:85204033-85204034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537459978	chr1:85204062-85204063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573802204	chr1:85204083-85204084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536317699	chr1:85204094-85204095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556158147	chr1:85204131-85204132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373480998	chr1:85204170-85204171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572749544	chr1:85204186-85204187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544672509	chr1:85204227-85204228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565222292	chr1:85204398-85204399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150374033	chr1:85204439-85204440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374928915	chr1:85204457-85204458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199838906	chr1:85204470-85204471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61402860	chr1:85204471-85204472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59128425	chr1:85204483-85204484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57041063	chr1:85204484-85204485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192320381	chr1:85204530-85204531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28620014	chr1:85204558-85204559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183290627	chr1:85204615-85204616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576289965	chr1:85204758-85204759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560718066	chr1:85204762-85204763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5775794	chr1:85204824-85204825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397710685	chr1:85204834-85204835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529359565	chr1:85204836-85204837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549411253	chr1:85204840-85204841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187449874	chr1:85204880-85204881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145326049	chr1:85204892-85204893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551470227	chr1:85204971-85204972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565127772	chr1:85204976-85204977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190019962	chr1:85205055-85205056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571805062	chr1:85205082-85205083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540754443	chr1:85205083-85205084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35630586	chr1:85205091-85205092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548435950	chr1:85205104-85205105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182648608	chr1:85205191-85205192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77569760	chr1:85205195-85205196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72716928	chr1:85205215-85205216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186618484	chr1:85205220-85205221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137971447	chr1:85205231-85205232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142339499	chr1:85205249-85205250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85201200-85204000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85203000-85203800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:85203400-85204200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:85203600-85203800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:85203600-85204200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr1:85203800-85204000	Bivalent Enhancer	HUVEC	blood vessel
7	chr1:85203800-85204400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:85204000-85204200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:85204000-85204200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr1:85204000-85204200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:85204000-85204200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:85204000-85204400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:85204200-85205000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:85204200-85205400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:85204200-85212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:85204200-85230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:85204400-85204800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:85204400-85204800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:85204400-85205600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:85204800-85206400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr1:85204800-85206600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:85204800-85206800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:85205000-85205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:85205400-85206400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:85205400-85206600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:85205400-85208000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:85205600-85205800	Weak transcription	Fetal Brain Male	brain
28	chr1:85205600-85206000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr1:85205600-85206000	Enhancers	Brain Angular Gyrus	brain
30	chr1:85205600-85206200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:85205600-85206200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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