Variant report

Variant	esv3524944
Chromosome Location	chr6:2207367-2208552
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	chr6:2207154..2208883-chr6:2356432..2359117,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368284952	chr6:2207390-2207391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188771858	chr6:2207432-2207433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181665148	chr6:2207444-2207445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386696119	chr6:2207446-2207447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386696120	chr6:2207453-2207454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184685181	chr6:2207454-2207455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564094707	chr6:2207480-2207481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547658707	chr6:2207487-2207488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564356819	chr6:2207516-2207517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34990086	chr6:2207527-2207528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533082981	chr6:2207530-2207531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577618689	chr6:2207652-2207653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550400637	chr6:2207680-2207681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552507874	chr6:2207683-2207684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569177466	chr6:2207696-2207697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537885144	chr6:2207706-2207707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548269696	chr6:2207718-2207719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568264234	chr6:2207840-2207841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534082901	chr6:2207850-2207851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115076290	chr6:2207862-2207863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3778565	chr6:2207894-2207895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539766836	chr6:2207938-2207939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371092813	chr6:2207994-2207995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9503122	chr6:2208008-2208009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575931576	chr6:2208027-2208028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200002808	chr6:2208031-2208032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542964200	chr6:2208061-2208062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572173934	chr6:2208115-2208116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529133290	chr6:2208136-2208137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536011926	chr6:2208184-2208185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541184091	chr6:2208212-2208213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141507773	chr6:2208227-2208228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564139001	chr6:2208244-2208245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113112525	chr6:2208256-2208257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549783064	chr6:2208262-2208263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563643090	chr6:2208277-2208278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111412067	chr6:2208285-2208286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531595945	chr6:2208308-2208309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372695252	chr6:2208324-2208325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs234916	chr6:2208328-2208329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535156678	chr6:2208331-2208332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568175405	chr6:2208342-2208343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9392372	chr6:2208360-2208361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs547943250	chr6:2208366-2208367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570935843	chr6:2208374-2208375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540057837	chr6:2208408-2208409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9405548	chr6:2208409-2208410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72494600	chr6:2208434-2208435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537060589	chr6:2208465-2208466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535393906	chr6:2208468-2208469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2192800-2222000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:2193800-2216800	Weak transcription	Gastric	stomach
3	chr6:2197400-2222000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:2197800-2209400	Weak transcription	Stomach Mucosa	stomach
5	chr6:2203000-2209600	Weak transcription	Psoas Muscle	Psoas
6	chr6:2204200-2208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:2206800-2207600	Strong transcription	HepG2	liver
8	chr6:2207000-2222000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:2207600-2209400	Weak transcription	HepG2	liver
10	chr6:2208200-2208400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr6:2208400-2222000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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