Variant report

Variant	esv3436863
Chromosome Location	chr6:28022773-28024221
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	POLR2A	chr6:28023025-28023199	K562	blood:	n/a	n/a
2	POLR2A	chr6:28023452-28023581	K562	blood:	n/a	n/a
3	POLR2A	chr6:28022273-28022773	K562	blood:	n/a	n/a
4	ZNF274	chr6:28023151-28023516	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27856950..27859637-chr6:28022500..28024631,2	K562	blood:
2	chr6:28022742..28025114-chr6:28059303..28061030,2	K562	blood:
3	chr6:28023183..28024935-chr6:43739349..43741266,2	K562	blood:
4	chr6:28022204..28024125-chr6:28233468..28235109,2	MCF-7	breast:

Variant related genes	Relation type
OR2B8P	TF binding region
ENSG00000197153	chromatin interactions
ENSG00000197062	chromatin interactions
ENSG00000219891	chromatin interactions
ENSG00000112715	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554085514	chr6:28022962-28022963	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369867173	chr6:28022982-28022983	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs66529373	chr6:28023008-28023009	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs539745910	chr6:28023012-28023013	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192327657	chr6:28023184-28023185	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs184091413	chr6:28023185-28023186	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs187309787	chr6:28023198-28023199	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs56154504	chr6:28023203-28023204	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs12174026	chr6:28023300-28023301	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
10	rs576800169	chr6:28023311-28023312	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs140390193	chr6:28023320-28023321	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
12	rs192947951	chr6:28023336-28023337	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs140033666	chr6:28023337-28023338	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs374618904	chr6:28023340-28023341	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs541874727	chr6:28023353-28023354	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs28620905	chr6:28023364-28023365	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
17	rs555373840	chr6:28023380-28023381	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs537960211	chr6:28023392-28023393	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs575799501	chr6:28023393-28023394	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs189474807	chr6:28023398-28023399	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs10946950	chr6:28023428-28023429	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	mRNA abundance
22	rs572063015	chr6:28023439-28023440	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs181950079	chr6:28023457-28023458	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs12174818	chr6:28023458-28023459	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs199588785	chr6:28023488-28023489	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs542467301	chr6:28023525-28023526	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs541082368	chr6:28023529-28023530	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs185851107	chr6:28023568-28023569	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs188925587	chr6:28023576-28023577	Inactive region	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs543205904	chr6:28023616-28023617	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs576066690	chr6:28023701-28023702	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs527524030	chr6:28023715-28023716	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs9393881	chr6:28023751-28023752	Inactive region	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs80239602	chr6:28023785-28023786	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs548196740	chr6:28023789-28023790	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs568406179	chr6:28023843-28023844	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs181651285	chr6:28023849-28023850	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs148476892	chr6:28023869-28023870	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs375647756	chr6:28023899-28023900	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs57946345	chr6:28023920-28023921	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs150982865	chr6:28024004-28024005	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs369714740	chr6:28024022-28024023	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs570385656	chr6:28024023-28024024	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs79457853	chr6:28024026-28024027	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs555412584	chr6:28024036-28024037	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs571962243	chr6:28024048-28024049	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs377698572	chr6:28024078-28024079	Inactive region	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs534322777	chr6:28024118-28024119	Inactive region	Chromatin interactive region	4 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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