Variant report

Variant	esv2421474
Chromosome Location	chr6:33938403-33942705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
2	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:
3	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:
4	chr6:33936123..33939292-chr6:33941917..33944139,3	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2495973	chr6:33938403-33938404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192987427	chr6:33938485-33938486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535517750	chr6:33938566-33938567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369273602	chr6:33938635-33938636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550723481	chr6:33938646-33938647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569067737	chr6:33938654-33938655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184796398	chr6:33938683-33938684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145263380	chr6:33938708-33938709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578239103	chr6:33938760-33938761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373518220	chr6:33938798-33938799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111722480	chr6:33938879-33938880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111919253	chr6:33938892-33938893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190047925	chr6:33938970-33938971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553300303	chr6:33939062-33939063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574777284	chr6:33939079-33939080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542290078	chr6:33939133-33939134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2499756	chr6:33939156-33939157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs546866944	chr6:33939190-33939191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575424710	chr6:33939227-33939228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2495974	chr6:33939250-33939251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529088942	chr6:33939332-33939333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373918890	chr6:33939401-33939402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528748292	chr6:33939409-33939410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181813569	chr6:33939424-33939425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71567414	chr6:33939445-33939446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375977685	chr6:33939476-33939477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374397212	chr6:33939483-33939484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184780366	chr6:33939486-33939487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528925419	chr6:33939538-33939539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550475793	chr6:33939541-33939542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568930038	chr6:33939553-33939554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376504469	chr6:33939558-33939559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539540368	chr6:33939653-33939654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551576685	chr6:33939659-33939660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566567659	chr6:33939696-33939697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58624907	chr6:33939700-33939701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555404980	chr6:33939736-33939737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150221296	chr6:33939753-33939754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373815578	chr6:33939760-33939761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556946188	chr6:33939766-33939767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575288806	chr6:33939807-33939808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377158430	chr6:33939937-33939938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368783726	chr6:33939946-33939947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545907727	chr6:33939948-33939949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370528515	chr6:33939951-33939952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145678480	chr6:33939965-33939966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189611613	chr6:33940104-33940105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141934841	chr6:33940197-33940198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540918833	chr6:33940208-33940209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2499758	chr6:33940242-33940243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33927000-33942400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33934800-33943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:33941800-33942800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:33941800-33942800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr6:33941800-33942800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr6:33942000-33942200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:33942000-33942400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr6:33942000-33942600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr6:33942000-33942800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:33942400-33942600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33942400-33942800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr6:33942400-33942800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33942400-33942800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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