Variant report

Variant	esv3472317
Chromosome Location	chr6:28018092-28021986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:28018902-28018971	K562	blood:	n/a	n/a
2	CTCF	chr6:28018360-28018510	GM12869	blood:	n/a	n/a
3	CTCF	chr6:28021479-28021522	GM20000	blood:	n/a	n/a
4	JUN	chr6:28018958-28019005	K562	blood:	n/a	n/a
5	MEF2A	chr6:28018670-28019105	K562	blood:	n/a	chr6:28018930-28018951 chr6:28018934-28018945 chr6:28018928-28018949 chr6:28018932-28018947 chr6:28018931-28018947 chr6:28018935-28018944 chr6:28018932-28018948 chr6:28018928-28018949 chr6:28018933-28018947 chr6:28018928-28018949 chr6:28018935-28018946
6	POLR2A	chr6:28018690-28019111	K562	blood:	n/a	n/a
7	POLR2A	chr6:28021732-28021892	K562	blood:	n/a	n/a
8	POLR2A	chr6:28016648-28018480	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28008817..28010926-chr6:28017296..28019171,2	MCF-7	breast:
2	chr6:28015384..28017168-chr6:28019091..28020593,2	K562	blood:
3	chr6:28012616..28016428-chr6:28017297..28020846,3	K562	blood:
4	chr6:28017721..28019447-chr6:28188224..28189953,2	K562	blood:
5	chr6:27859381..27860988-chr6:28015377..28018182,2	K562	blood:

Variant related genes	Relation type
OR2B8P	TF binding region
ENSG00000233224	chromatin interactions
ENSG00000187763	chromatin interactions
ENSG00000197153	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188262854	chr6:28018137-28018138	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369313896	chr6:28018167-28018168	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs535914847	chr6:28018193-28018194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4713131	chr6:28018194-28018195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567731378	chr6:28018222-28018223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572654859	chr6:28018246-28018247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59991446	chr6:28018332-28018333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544873519	chr6:28018335-28018336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372974944	chr6:28018347-28018348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116117737	chr6:28018353-28018354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575434074	chr6:28018396-28018397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543828793	chr6:28018451-28018452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149964	chr6:28018469-28018470	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs544073647	chr6:28018504-28018505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540127787	chr6:28018525-28018526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529424762	chr6:28018551-28018552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549455833	chr6:28018552-28018553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559989377	chr6:28018557-28018558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528728321	chr6:28018570-28018571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551670650	chr6:28018581-28018582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374883855	chr6:28018582-28018583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537321197	chr6:28018609-28018610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528642226	chr6:28018624-28018625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373712047	chr6:28018625-28018626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201193697	chr6:28018687-28018688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149965	chr6:28018689-28018690	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs80136110	chr6:28018697-28018698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs74642176	chr6:28018698-28018699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62401426	chr6:28018700-28018701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562472337	chr6:28018741-28018742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369292048	chr6:28018742-28018743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372086814	chr6:28018750-28018751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535946873	chr6:28018800-28018801	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs9393879	chr6:28018944-28018945	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185634837	chr6:28018968-28018969	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144748556	chr6:28018988-28018989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534088077	chr6:28019005-28019006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558453880	chr6:28019034-28019035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575519599	chr6:28019054-28019055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs190256888	chr6:28019064-28019065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563684628	chr6:28019072-28019073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574034255	chr6:28019118-28019119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376197017	chr6:28019132-28019133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543037541	chr6:28019149-28019150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559925941	chr6:28019199-28019200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182481552	chr6:28019203-28019204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148530254	chr6:28019264-28019265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565306621	chr6:28019286-28019287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531250615	chr6:28019302-28019303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550820719	chr6:28019304-28019305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
Bipolar disorder	19114987	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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