Variant report

Variant	esv3400999
Chromosome Location	chr6:13881864-13884220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13872481..13874307-chr6:13882268..13884825,2	K562	blood:
2	chr6:13872608..13875601-chr6:13884105..13886599,2	MCF-7	breast:
3	chr6:13866329..13868037-chr6:13883429..13885873,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147040831	chr6:13881885-13881886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138517215	chr6:13881906-13881907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114749798	chr6:13881919-13881920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558697700	chr6:13881963-13881964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1204260	chr6:13881964-13881965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540717898	chr6:13881967-13881968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369488730	chr6:13881998-13881999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144100833	chr6:13882040-13882041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377093119	chr6:13882074-13882075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1204261	chr6:13882076-13882077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182233621	chr6:13882077-13882078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563508899	chr6:13882090-13882091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150702665	chr6:13882091-13882092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58260924	chr6:13882104-13882105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1204262	chr6:13882127-13882128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566081664	chr6:13882130-13882131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139861958	chr6:13882141-13882142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149411095	chr6:13882153-13882154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571410635	chr6:13882171-13882172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568457953	chr6:13882178-13882179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371248378	chr6:13882197-13882198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184898341	chr6:13882238-13882239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569829259	chr6:13882277-13882278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565636714	chr6:13882278-13882279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1204263	chr6:13882360-13882361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558683648	chr6:13882363-13882364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6459172	chr6:13882393-13882394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541003030	chr6:13882420-13882421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115088262	chr6:13882458-13882459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190196203	chr6:13882465-13882466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370058216	chr6:13882469-13882470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573649435	chr6:13882472-13882473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563648174	chr6:13882488-13882489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6924039	chr6:13882489-13882490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566848922	chr6:13882514-13882515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369555306	chr6:13882564-13882565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182410795	chr6:13882567-13882568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187913190	chr6:13882589-13882590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35485521	chr6:13882592-13882593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370477134	chr6:13882608-13882609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146424145	chr6:13882694-13882695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373596829	chr6:13882720-13882721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375657521	chr6:13882724-13882725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377326142	chr6:13882748-13882749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370380718	chr6:13882788-13882789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550093313	chr6:13882807-13882808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193182450	chr6:13882854-13882855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538817134	chr6:13882971-13882972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139837026	chr6:13883013-13883014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374526263	chr6:13883019-13883020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13880200-13882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:13880400-13882000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr6:13881000-13882400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:13881400-13882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:13881400-13882600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:13881400-13882600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:13881600-13882200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:13881600-13882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:13881600-13882600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:13881800-13882200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:13881800-13882400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:13882400-13884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:13882600-13885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:13884000-13886000	Enhancers	Fetal Brain Male	brain
15	chr6:13884200-13885200	Enhancers	K562	blood

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