Variant report

Variant	esv3435987
Chromosome Location	chr6:25450623-25451871
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	chr6:25448709..25450289-chr6:25450958..25453403,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533023516	chr6:25450659-25450660	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs376283953	chr6:25450702-25450703	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs367845997	chr6:25450772-25450773	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs543450886	chr6:25450790-25450791	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186432071	chr6:25450792-25450793	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189268554	chr6:25450835-25450836	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549247794	chr6:25450848-25450849	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565769225	chr6:25450849-25450850	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528247671	chr6:25450855-25450856	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs78628329	chr6:25450884-25450885	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371039331	chr6:25450889-25450890	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375049513	chr6:25450919-25450920	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs200666805	chr6:25450952-25450953	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146339541	chr6:25450953-25450954	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373356786	chr6:25450958-25450959	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184187223	chr6:25450960-25450961	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571418789	chr6:25450965-25450966	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4712940	chr6:25450968-25450969	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4712941	chr6:25450974-25450975	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370301025	chr6:25451006-25451007	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs374512910	chr6:25451010-25451011	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs368788984	chr6:25451011-25451012	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181577768	chr6:25451032-25451033	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537104142	chr6:25451070-25451071	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149036178	chr6:25451145-25451146	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185943789	chr6:25451169-25451170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191050973	chr6:25451174-25451175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200613092	chr6:25451204-25451205	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201070034	chr6:25451207-25451208	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201942523	chr6:25451212-25451213	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534272133	chr6:25451225-25451226	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs68183655	chr6:25451244-25451245	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111879192	chr6:25451260-25451261	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78350161	chr6:25451279-25451280	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536578587	chr6:25451325-25451326	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186017529	chr6:25451332-25451333	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190971048	chr6:25451372-25451373	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13203466	chr6:25451439-25451440	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13203740	chr6:25451440-25451441	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183212152	chr6:25451459-25451460	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559152734	chr6:25451483-25451484	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371540348	chr6:25451504-25451505	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59921765	chr6:25451540-25451541	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543539813	chr6:25451613-25451614	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73393843	chr6:25451619-25451620	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528862942	chr6:25451668-25451669	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186972828	chr6:25451674-25451675	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191509332	chr6:25451741-25451742	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114623519	chr6:25451748-25451749	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369538151	chr6:25451769-25451770	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25411000-25451800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:25418800-25462600	Weak transcription	Ovary	ovary
3	chr6:25433400-25472600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:25436200-25481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:25438200-25472600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:25442000-25455600	Weak transcription	Aorta	Aorta
7	chr6:25443200-25472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:25446600-25460000	Weak transcription	Fetal Lung	lung
9	chr6:25446800-25450800	Enhancers	HMEC	breast
10	chr6:25446800-25451000	Enhancers	NHEK	skin
11	chr6:25446800-25451400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:25446800-25454200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:25446800-25454200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:25446800-25493600	Weak transcription	Left Ventricle	heart
15	chr6:25446800-25504400	Weak transcription	Primary B cells from cord blood	blood
16	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:25447000-25450800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:25447000-25451600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:25447400-25452200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:25447400-25473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:25447800-25450800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:25447800-25453800	Weak transcription	Primary T cells from cord blood	blood
23	chr6:25448000-25450800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:25448000-25451600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:25448200-25450800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:25448200-25451600	Weak transcription	Right Atrium	heart
27	chr6:25448200-25472600	Weak transcription	Pancreas	Pancrea
28	chr6:25448400-25456600	Weak transcription	Gastric	stomach
29	chr6:25448400-25464400	Weak transcription	Thymus	Thymus
30	chr6:25448600-25450800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:25448800-25451000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:25449000-25451000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:25449000-25462400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:25449000-25463600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:25449200-25450800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:25449200-25454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:25449400-25450800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:25449400-25450800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:25449400-25450800	Enhancers	Brain Substantia Nigra	brain
40	chr6:25449400-25451800	Weak transcription	Fetal Intestine Small	intestine
41	chr6:25449400-25515800	Weak transcription	Lung	lung
42	chr6:25449600-25450800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:25449600-25450800	Enhancers	Brain Anterior Caudate	brain
44	chr6:25449600-25454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:25449600-25461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:25449800-25451800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:25449800-25456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:25450000-25450800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:25450000-25450800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:25450000-25451000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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