Variant report

Variant	esv3361396
Chromosome Location	chr6:25205873-25207921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25189909..25192273-chr6:25203769..25206559,2	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577465703	chr6:25205885-25205886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561327357	chr6:25205887-25205888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527317545	chr6:25205895-25205896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115583983	chr6:25205922-25205923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564454702	chr6:25205961-25205962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533082858	chr6:25205962-25205963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549963640	chr6:25205969-25205970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544897921	chr6:25206012-25206013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569883239	chr6:25206021-25206022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200905441	chr6:25206024-25206025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529376869	chr6:25206030-25206031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80087504	chr6:25206046-25206047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138415916	chr6:25206090-25206091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565674182	chr6:25206101-25206102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535056299	chr6:25206115-25206116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148855486	chr6:25206143-25206144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371302309	chr6:25206157-25206158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571863924	chr6:25206172-25206173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369156084	chr6:25206231-25206232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539877916	chr6:25206238-25206239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529671829	chr6:25206254-25206255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191926524	chr6:25206281-25206282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181074653	chr6:25206324-25206325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62401393	chr6:25206341-25206342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185222359	chr6:25206345-25206346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571944220	chr6:25206391-25206392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569641345	chr6:25206424-25206425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116694908	chr6:25206492-25206493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563938007	chr6:25206493-25206494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143427500	chr6:25206606-25206607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11965121	chr6:25206615-25206616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556401465	chr6:25206616-25206617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373521196	chr6:25206619-25206620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373833219	chr6:25206620-25206621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568240134	chr6:25206624-25206625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190377887	chr6:25206633-25206634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182734252	chr6:25206652-25206653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370232707	chr6:25206678-25206679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs66507457	chr6:25206698-25206699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543397764	chr6:25206705-25206706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372799454	chr6:25206712-25206713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28814320	chr6:25206717-25206718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67524888	chr6:25206723-25206724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575785496	chr6:25206735-25206736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371463668	chr6:25206761-25206762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74186900	chr6:25206769-25206770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs68105264	chr6:25206771-25206772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74208664	chr6:25206778-25206779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369340387	chr6:25206788-25206789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372776324	chr6:25206803-25206804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25203000-25219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:25207000-25208000	Enhancers	K562	blood
3	chr6:25207200-25208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:25207200-25208000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:25207200-25208000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:25207200-25208000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:25207200-25208400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:25207400-25207600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:25207400-25207800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:25207400-25207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:25207400-25207800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:25207400-25207800	Enhancers	Spleen	Spleen
13	chr6:25207400-25208000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:25207400-25208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:25207400-25208000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:25207400-25208000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:25207400-25208000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:25207400-25208200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:25207400-25208400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:25207400-25208400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:25207600-25208000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:25207600-25208000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:25207600-25208000	Enhancers	Fetal Thymus	thymus
24	chr6:25207600-25217800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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