Variant report

Variant	esv3449735
Chromosome Location	chr6:28679873-28681871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28677418..28680355-chr6:28735511..28738375,2	K562	blood:
2	chr6:28676549..28680032-chr6:28724574..28727425,3	K562	blood:
3	chr6:28677024..28680294-chr6:28708371..28711108,3	K562	blood:
4	chr6:28676549..28680840-chr6:28724202..28726516,6	K562	blood:
5	chr6:28674230..28679862-chr6:28680075..28684685,7	K562	blood:
6	chr6:28677491..28679930-chr6:28756497..28758578,2	K562	blood:
7	chr6:28678329..28679999-chr6:28949047..28951282,2	K562	blood:
8	chr6:28677880..28679993-chr6:28950394..28952978,2	K562	blood:

No data

Extended variants
information (count: 129 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148616205	chr6:28679897-28679898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115711166	chr6:28679940-28679941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1539585	chr6:28679944-28679945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1539584	chr6:28679945-28679946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs556219010	chr6:28679948-28679949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4385296	chr6:28679987-28679988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576373298	chr6:28679994-28679995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542120029	chr6:28680024-28680025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190232322	chr6:28680034-28680035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115582688	chr6:28680103-28680104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372657892	chr6:28680104-28680105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73391145	chr6:28680106-28680107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182455960	chr6:28680150-28680151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141183184	chr6:28680201-28680202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114074725	chr6:28680312-28680313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548597977	chr6:28680354-28680355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372472530	chr6:28680358-28680359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568777169	chr6:28680436-28680437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112771452	chr6:28680467-28680468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564794960	chr6:28680500-28680501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539559015	chr6:28680501-28680502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556318685	chr6:28680522-28680523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147379967	chr6:28680524-28680525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551968009	chr6:28680551-28680552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13198862	chr6:28680615-28680616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13213094	chr6:28680617-28680618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113187383	chr6:28680618-28680619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375891646	chr6:28680624-28680625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13198869	chr6:28680625-28680626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369963407	chr6:28680633-28680634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372673336	chr6:28680635-28680636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369847042	chr6:28680638-28680639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373511467	chr6:28680640-28680641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376720460	chr6:28680641-28680642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371345189	chr6:28680649-28680650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372798036	chr6:28680651-28680652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376420588	chr6:28680652-28680653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368754066	chr6:28680653-28680654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373888968	chr6:28680654-28680655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377549024	chr6:28680657-28680658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373511569	chr6:28680660-28680661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377235729	chr6:28680668-28680669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376965175	chr6:28680673-28680674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371420578	chr6:28680675-28680676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199747828	chr6:28680679-28680680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374502025	chr6:28680680-28680681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374937304	chr6:28680681-28680682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375760570	chr6:28680683-28680684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368417192	chr6:28680684-28680685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370140440	chr6:28680689-28680690	Weak transcription	n/a	n/a	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
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28677800-28680000	Weak transcription	HMEC	breast
2	chr6:28679000-28680000	Weak transcription	A549	lung
3	chr6:28679400-28680200	Enhancers	K562	blood
4	chr6:28679600-28680000	Weak transcription	NHEK	skin
5	chr6:28680000-28680400	Enhancers	A549	lung
6	chr6:28680000-28680600	Enhancers	HMEC	breast
7	chr6:28680000-28680600	Enhancers	NHEK	skin
8	chr6:28680200-28684400	Weak transcription	K562	blood
9	chr6:28680400-28680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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