Variant report

Variant	esv3472629
Chromosome Location	chr6:57297191-57301247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57297598..57300578-chr6:57301764..57305557,4	K562	blood:
2	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
3	chr6:57296504..57298287-chr6:57300033..57301535,2	K562	blood:
4	chr6:57293162..57295571-chr6:57300739..57302981,3	K562	blood:
5	chr6:57297690..57300107-chr6:57303137..57305465,2	MCF-7	breast:

Extended variants
information (count: 170 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201324222	chr6:57297191-57297192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs541844885	chr6:57297210-57297211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs146242596	chr6:57297227-57297228	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139336077	chr6:57297331-57297332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201150425	chr6:57297342-57297343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs398001712	chr6:57297348-57297349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs571003436	chr6:57297368-57297369	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190741250	chr6:57297380-57297381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547178855	chr6:57297388-57297389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533288065	chr6:57297513-57297514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569968892	chr6:57297524-57297525	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528708878	chr6:57297545-57297546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76525013	chr6:57297552-57297553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565655851	chr6:57297670-57297671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536196274	chr6:57297676-57297677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566531340	chr6:57297729-57297730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7750805	chr6:57297746-57297747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183027038	chr6:57297762-57297763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537336532	chr6:57297854-57297855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7768912	chr6:57297867-57297868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188045522	chr6:57297881-57297882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200095920	chr6:57297912-57297913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371055148	chr6:57297948-57297949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534533309	chr6:57297962-57297963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77789130	chr6:57297982-57297983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10706272	chr6:57298001-57298002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574841223	chr6:57298010-57298011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192544200	chr6:57298068-57298069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569304939	chr6:57298075-57298076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563333980	chr6:57298120-57298121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs59073763	chr6:57298143-57298144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs546069802	chr6:57298180-57298181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564663695	chr6:57298195-57298196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151015260	chr6:57298204-57298205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372523779	chr6:57298208-57298209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546902250	chr6:57298218-57298219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557692596	chr6:57298265-57298266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559357485	chr6:57298274-57298275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529803136	chr6:57298347-57298348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376053756	chr6:57298348-57298349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75154366	chr6:57298358-57298359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577735842	chr6:57298360-57298361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77943750	chr6:57298401-57298402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374407336	chr6:57298496-57298497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs116913534	chr6:57298498-57298499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570675180	chr6:57298505-57298506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534770535	chr6:57298554-57298555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552902881	chr6:57298560-57298561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs117980978	chr6:57298593-57298594	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs535551114	chr6:57298614-57298615	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57281600-57297600	Weak transcription	Dnd41	blood
2	chr6:57284400-57303600	Weak transcription	Pancreas	Pancrea
3	chr6:57286600-57299600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:57286600-57310200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:57288600-57297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:57288800-57303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:57289000-57310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:57289400-57305400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:57291600-57305600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:57292400-57301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:57294000-57301200	Enhancers	NHDF-Ad	bronchial
12	chr6:57294200-57301800	Weak transcription	Aorta	Aorta
13	chr6:57294400-57301800	Weak transcription	Left Ventricle	heart
14	chr6:57295600-57299200	Enhancers	Osteobl	bone
15	chr6:57295800-57297800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:57295800-57298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:57295800-57298800	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:57295800-57299200	Enhancers	NHLF	lung
19	chr6:57296000-57298800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:57296200-57297800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:57296200-57298200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:57296200-57298600	Enhancers	HSMM	muscle
23	chr6:57296200-57298800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:57296200-57299400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:57296400-57297200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:57296400-57297200	Enhancers	A549	lung
27	chr6:57296400-57297800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:57296400-57297800	Enhancers	Colon Smooth Muscle	Colon
29	chr6:57296400-57297800	Weak transcription	Small Intestine	intestine
30	chr6:57296400-57297800	Enhancers	Hela-S3	cervix
31	chr6:57296400-57297800	Enhancers	NHEK	skin
32	chr6:57296400-57298000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:57296400-57298000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:57296400-57298000	Enhancers	NH-A	brain
35	chr6:57296400-57298600	Enhancers	Primary T cells from cord blood	blood
36	chr6:57296400-57298600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr6:57296600-57297400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr6:57296600-57297600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:57296600-57298000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:57296600-57298200	Weak transcription	Placenta	Placenta
41	chr6:57296600-57298600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:57296600-57298600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:57296600-57298800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:57296600-57298800	Enhancers	GM12878-XiMat	blood
45	chr6:57296600-57299600	Weak transcription	Ovary	ovary
46	chr6:57296600-57301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:57296800-57297200	Enhancers	Fetal Lung	lung
48	chr6:57296800-57297400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:57296800-57297600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:57296800-57297600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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