Variant report

Variant	esv1002659
Chromosome Location	chr6:57220227-57225028
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	chr6:57214841..57217586-chr6:57224303..57226247,2	K562	blood:
2	chr6:57187827..57190385-chr6:57223942..57226286,2	MCF-7	breast:

Extended variants
information (count: 207 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573448299	chr6:57220238-57220239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540486381	chr6:57220250-57220251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs368872400	chr6:57220254-57220255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs7753850	chr6:57220258-57220259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7771880	chr6:57220265-57220266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559359488	chr6:57220279-57220280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573751664	chr6:57220286-57220287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs574451411	chr6:57220291-57220292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs7753999	chr6:57220329-57220330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs541957877	chr6:57220366-57220367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562937564	chr6:57220533-57220534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7772541	chr6:57220538-57220539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs7754364	chr6:57220583-57220584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7754488	chr6:57220593-57220594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7754494	chr6:57220602-57220603	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs3778512	chr6:57220607-57220608	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs552033249	chr6:57220639-57220640	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564059676	chr6:57220691-57220692	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs70989766	chr6:57220703-57220704	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7454510	chr6:57220718-57220719	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546485157	chr6:57220728-57220729	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7754663	chr6:57220731-57220732	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112817093	chr6:57220778-57220779	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535574816	chr6:57220812-57220813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551093660	chr6:57220829-57220830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs569258570	chr6:57220830-57220831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12215346	chr6:57220845-57220846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539868812	chr6:57220864-57220865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs376359261	chr6:57220873-57220874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112013462	chr6:57220890-57220891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs12189744	chr6:57220905-57220906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs4715663	chr6:57220917-57220918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs555678946	chr6:57220941-57220942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574219317	chr6:57220952-57220953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541546736	chr6:57220995-57220996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556668175	chr6:57221023-57221024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79210155	chr6:57221035-57221036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74600636	chr6:57221040-57221041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79425077	chr6:57221041-57221042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5001421	chr6:57221056-57221057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5001422	chr6:57221071-57221072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5001423	chr6:57221109-57221110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5001424	chr6:57221114-57221115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574868145	chr6:57221116-57221117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370800925	chr6:57221163-57221164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545409559	chr6:57221216-57221217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563996415	chr6:57221227-57221228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5001425	chr6:57221274-57221275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528376877	chr6:57221282-57221283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540565173	chr6:57221293-57221294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Chronic lymphocytic leukemia	20421269	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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
3	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:57199600-57221000	Weak transcription	Hela-S3	cervix
5	chr6:57199600-57229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:57208800-57231200	Weak transcription	Aorta	Aorta
8	chr6:57209000-57244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:57212000-57226000	Weak transcription	Primary B cells from cord blood	blood
10	chr6:57212600-57223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:57214000-57220600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:57214200-57226000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:57215400-57229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:57215600-57220400	Weak transcription	Pancreas	Pancrea
15	chr6:57216000-57226000	Weak transcription	NHLF	lung
16	chr6:57216400-57221200	Weak transcription	Dnd41	blood
17	chr6:57216600-57225800	Weak transcription	GM12878-XiMat	blood
18	chr6:57218600-57220800	Weak transcription	K562	blood
19	chr6:57219400-57220400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:57219600-57223200	Weak transcription	NHDF-Ad	bronchial
21	chr6:57219800-57223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:57219800-57225000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:57220000-57229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:57220000-57230400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:57220200-57220800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:57220200-57221000	ZNF genes & repeats	Thymus	Thymus
27	chr6:57220400-57220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:57220400-57221000	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:57220600-57220800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:57220600-57221000	Weak transcription	Osteobl	bone
31	chr6:57220800-57221000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:57220800-57221000	ZNF genes & repeats	K562	blood
33	chr6:57221000-57223200	Weak transcription	Thymus	Thymus
34	chr6:57221000-57226000	Weak transcription	Pancreas	Pancrea
35	chr6:57221000-57238400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:57221000-57245000	Weak transcription	K562	blood
37	chr6:57221200-57224000	Enhancers	Dnd41	blood
38	chr6:57221400-57221600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:57221400-57223200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr6:57221600-57222800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:57221800-57222000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr6:57222000-57222600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr6:57222200-57222400	Enhancers	A549	lung
44	chr6:57222200-57223400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr6:57222400-57248200	Weak transcription	A549	lung
46	chr6:57222600-57222800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:57222600-57223400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:57222600-57223400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr6:57222600-57223400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr6:57222800-57223200	Enhancers	Primary T helper cells PMA-I stimulated	--

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