Variant report

Variant	esv3427145
Chromosome Location	chr6:57259293-57264091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 286 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79022352	chr6:57259309-57259310	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79180718	chr6:57259319-57259320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs564538035	chr6:57259391-57259392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112453827	chr6:57259392-57259393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76724493	chr6:57259399-57259400	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs202176703	chr6:57259401-57259402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75759527	chr6:57259413-57259414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs573437060	chr6:57259435-57259436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs78906907	chr6:57259437-57259438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561913837	chr6:57259447-57259448	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs78199903	chr6:57259474-57259475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs9464464	chr6:57259475-57259476	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547836494	chr6:57259484-57259485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs112534050	chr6:57259489-57259490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113178816	chr6:57259496-57259497	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112127682	chr6:57259499-57259500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112209037	chr6:57259539-57259540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376862141	chr6:57259541-57259542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200176928	chr6:57259559-57259560	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs530674004	chr6:57259562-57259563	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191788055	chr6:57259598-57259599	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551873291	chr6:57259600-57259601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs570446331	chr6:57259639-57259640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62415548	chr6:57259655-57259656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546881165	chr6:57259656-57259657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62415549	chr6:57259658-57259659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568212494	chr6:57259670-57259671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs535641760	chr6:57259676-57259677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs149907107	chr6:57259677-57259678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557232642	chr6:57259688-57259689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569358623	chr6:57259703-57259704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112277037	chr6:57259706-57259707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539950133	chr6:57259719-57259720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557840122	chr6:57259759-57259760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62415550	chr6:57259789-57259790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201620120	chr6:57259795-57259796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62415551	chr6:57259808-57259809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62415552	chr6:57259820-57259821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs540531240	chr6:57259890-57259891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs555645526	chr6:57259892-57259893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs386701506	chr6:57259933-57259934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs62415554	chr6:57259961-57259962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs62415555	chr6:57260011-57260012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143626187	chr6:57260058-57260059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs141917269	chr6:57260059-57260060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs544394874	chr6:57260109-57260110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562779552	chr6:57260126-57260127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs191705925	chr6:57260152-57260153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28877338	chr6:57260162-57260163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570628309	chr6:57260181-57260182	Weak transcription ZNF genes & repeats	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57238400-57261000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:57241200-57262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:57242800-57259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:57245600-57261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:57247000-57261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:57247600-57259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:57249200-57261800	Weak transcription	HSMM	muscle
8	chr6:57251200-57262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:57251600-57262800	Weak transcription	Thymus	Thymus
10	chr6:57252000-57262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:57253800-57262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:57254200-57262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:57254200-57262800	Weak transcription	Ovary	ovary
14	chr6:57254400-57262600	Weak transcription	Osteobl	bone
15	chr6:57255800-57260000	Weak transcription	Fetal Kidney	kidney
16	chr6:57257600-57267400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:57257800-57260200	Weak transcription	Dnd41	blood
18	chr6:57260400-57263800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:57261000-57263800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr6:57261200-57261400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:57261200-57263200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:57261600-57263400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:57261800-57263400	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr6:57261800-57263400	ZNF genes & repeats	HepG2	liver
25	chr6:57261800-57263600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr6:57262400-57263600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr6:57262600-57263200	Strong transcription	Osteobl	bone
28	chr6:57262600-57263400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr6:57262600-57265200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr6:57262800-57263000	ZNF genes & repeats	Ovary	ovary
31	chr6:57262800-57263200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:57262800-57263200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:57262800-57263200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr6:57262800-57263200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:57262800-57263200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:57262800-57263400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:57262800-57263400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
38	chr6:57262800-57263400	ZNF genes & repeats	Thymus	Thymus
39	chr6:57262800-57263600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr6:57262800-57263600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr6:57262800-57263600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr6:57262800-57263600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr6:57262800-57263600	ZNF genes & repeats	Fetal Lung	lung
44	chr6:57262800-57263800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr6:57262800-57263800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:57262800-57263800	ZNF genes & repeats	Dnd41	blood
47	chr6:57263000-57263200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:57263000-57263400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
49	chr6:57263000-57263600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:57263000-57263600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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