Variant report

Variant	esv3334902
Chromosome Location	chr6:28019790-28022864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:28021479-28021522	GM20000	blood:	n/a	n/a
2	POLR2A	chr6:28022273-28022773	K562	blood:	n/a	n/a
3	POLR2A	chr6:28021732-28021892	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28022204..28024125-chr6:28233468..28235109,2	MCF-7	breast:
2	chr6:27856950..27859637-chr6:28022500..28024631,2	K562	blood:
3	chr6:28015384..28017168-chr6:28019091..28020593,2	K562	blood:
4	chr6:28022742..28025114-chr6:28059303..28061030,2	K562	blood:
5	chr6:28012616..28016428-chr6:28017297..28020846,3	K562	blood:

No data

Variant related genes	Relation type
OR2B8P	TF binding region
ENSG00000219891	chromatin interactions
ENSG00000197062	chromatin interactions
ENSG00000187763	chromatin interactions
ENSG00000197153	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373144573	chr6:28019794-28019795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181166632	chr6:28019919-28019920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs574916207	chr6:28019930-28019931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146060031	chr6:28019938-28019939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140001731	chr6:28019950-28019951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs437164	chr6:28019952-28019953	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544392155	chr6:28019962-28019963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149899	chr6:28019979-28019980	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs12206596	chr6:28019984-28019985	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546211668	chr6:28020046-28020047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74537235	chr6:28020065-28020066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532245926	chr6:28020080-28020081	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73740887	chr6:28020166-28020167	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551956225	chr6:28020167-28020168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs202141354	chr6:28020183-28020184	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575794316	chr6:28020216-28020217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551942113	chr6:28020286-28020287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71559069	chr6:28020316-28020317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568927588	chr6:28020347-28020348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370557716	chr6:28020363-28020364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546035858	chr6:28020405-28020406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538075876	chr6:28020476-28020477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs151213450	chr6:28020477-28020478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568390746	chr6:28020479-28020480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566561770	chr6:28020510-28020511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534051254	chr6:28020557-28020558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73396511	chr6:28020597-28020598	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573114577	chr6:28020629-28020630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545487119	chr6:28020657-28020658	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558825542	chr6:28020680-28020681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185656848	chr6:28020703-28020704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs544432697	chr6:28020709-28020710	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71554963	chr6:28020814-28020815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs172166	chr6:28020820-28020821	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
35	rs9348785	chr6:28022215-28022216	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114563774	chr6:28022217-28022218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs203890	chr6:28022248-28022249	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs369052139	chr6:28022343-28022344	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551557039	chr6:28022347-28022348	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374921187	chr6:28022374-28022375	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368084478	chr6:28022406-28022407	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371238858	chr6:28022408-28022409	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs67631681	chr6:28022418-28022419	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs398110007	chr6:28022419-28022420	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374751697	chr6:28022440-28022441	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs56048167	chr6:28022448-28022449	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs369717880	chr6:28022458-28022459	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs55885883	chr6:28022469-28022470	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs367968498	chr6:28022470-28022471	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372017509	chr6:28022472-28022473	Inactive region	TF binding region Chromatin interactive region	2 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:

No data

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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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