Variant report

Variant	esv3322200
Chromosome Location	chr6:28022023-28023271
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	chr6:28022273-28022773	K562	blood:	n/a	n/a
3	ZNF274	chr6:28023151-28023516	K562	blood:	n/a	n/a

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

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

Extended variants
information (count: 65 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9348785	chr6:28022215-28022216	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114563774	chr6:28022217-28022218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs203890	chr6:28022248-28022249	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs369052139	chr6:28022343-28022344	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551557039	chr6:28022347-28022348	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374921187	chr6:28022374-28022375	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs368084478	chr6:28022406-28022407	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs371238858	chr6:28022408-28022409	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs67631681	chr6:28022418-28022419	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs398110007	chr6:28022419-28022420	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs374751697	chr6:28022440-28022441	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs56048167	chr6:28022448-28022449	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369717880	chr6:28022458-28022459	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs55885883	chr6:28022469-28022470	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs367968498	chr6:28022470-28022471	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372017509	chr6:28022472-28022473	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374995970	chr6:28022474-28022475	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs74207686	chr6:28022479-28022480	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372762921	chr6:28022480-28022481	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375938474	chr6:28022482-28022483	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs74184388	chr6:28022493-28022494	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9348786	chr6:28022494-28022495	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9393880	chr6:28022505-28022506	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368485768	chr6:28022509-28022510	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs372618945	chr6:28022517-28022518	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377213248	chr6:28022519-28022520	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369725971	chr6:28022524-28022525	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373181514	chr6:28022525-28022526	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs9380043	chr6:28022527-28022528	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs9380044	chr6:28022528-28022529	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377509116	chr6:28022534-28022535	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs369202676	chr6:28022536-28022537	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs373026629	chr6:28022538-28022539	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs377378412	chr6:28022545-28022546	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371771915	chr6:28022546-28022547	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370356012	chr6:28022552-28022553	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375462850	chr6:28022554-28022555	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377045986	chr6:28022580-28022581	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs371028323	chr6:28022581-28022582	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs549620346	chr6:28022582-28022583	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs374350384	chr6:28022584-28022585	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367879442	chr6:28022593-28022594	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs375295150	chr6:28022599-28022600	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs371656359	chr6:28022604-28022605	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374113280	chr6:28022607-28022608	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs367630555	chr6:28022609-28022610	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs184077793	chr6:28022611-28022612	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs9348787	chr6:28022625-28022626	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs9348788	chr6:28022636-28022637	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371507473	chr6:28022647-28022648	Inactive region	TF binding region Chromatin interactive region	3 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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