Variant report

Variant	esv3439119
Chromosome Location	chr6:57256093-57261191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 267 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:267 , 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	rs7775204	chr6:57256124-57256125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548917349	chr6:57256129-57256130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570225132	chr6:57256138-57256139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs537647650	chr6:57256169-57256170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs9382719	chr6:57256182-57256183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs559233175	chr6:57256237-57256238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571301260	chr6:57256242-57256243	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545944695	chr6:57256252-57256253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs9396285	chr6:57256310-57256311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368412984	chr6:57256339-57256340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs9396286	chr6:57256363-57256364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs192425724	chr6:57256367-57256368	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs9382720	chr6:57256380-57256381	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542471492	chr6:57256387-57256388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532912409	chr6:57256391-57256392	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs139948974	chr6:57256392-57256393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554445841	chr6:57256394-57256395	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9382721	chr6:57256417-57256418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs9396287	chr6:57256418-57256419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs144355360	chr6:57256439-57256440	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145359588	chr6:57256441-57256442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377611005	chr6:57256466-57256467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575976939	chr6:57256473-57256474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs9367738	chr6:57256500-57256501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543203885	chr6:57256511-57256512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9357957	chr6:57256605-57256606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs6941927	chr6:57256642-57256643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs202240461	chr6:57256694-57256695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142471100	chr6:57256695-57256696	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541189269	chr6:57256710-57256711	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559667503	chr6:57256741-57256742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530051666	chr6:57256749-57256750	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs9396288	chr6:57256752-57256753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs9396289	chr6:57256753-57256754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs182186395	chr6:57256764-57256765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs202100358	chr6:57256788-57256789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146014290	chr6:57256813-57256814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs386407189	chr6:57256814-57256815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs386407190	chr6:57256817-57256818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs57916012	chr6:57256818-57256819	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570362557	chr6:57256819-57256820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs4712154	chr6:57256870-57256871	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs386701505	chr6:57256872-57256873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114732343	chr6:57256874-57256875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562754115	chr6:57256876-57256877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115066100	chr6:57256877-57256878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570976638	chr6:57256881-57256882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs538690149	chr6:57256922-57256923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9349858	chr6:57256925-57256926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs553594286	chr6:57256948-57256949	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:35 , 50 per page) page: 1

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	chr6:57244400-57259200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:57245200-57257000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:57245600-57256200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:57245600-57261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:57247000-57261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:57247600-57258000	Weak transcription	Primary B cells from cord blood	blood
10	chr6:57247600-57259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:57248000-57258200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:57249000-57257600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:57249200-57261800	Weak transcription	HSMM	muscle
14	chr6:57250800-57259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:57251200-57262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:57251600-57262800	Weak transcription	Thymus	Thymus
17	chr6:57252000-57262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:57252200-57257400	Weak transcription	Dnd41	blood
19	chr6:57253800-57262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:57254200-57257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:57254200-57262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:57254200-57262800	Weak transcription	Ovary	ovary
23	chr6:57254400-57262600	Weak transcription	Osteobl	bone
24	chr6:57255000-57256200	Weak transcription	Fetal Thymus	thymus
25	chr6:57255200-57256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:57255200-57258800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr6:57255800-57260000	Weak transcription	Fetal Kidney	kidney
28	chr6:57257400-57257800	ZNF genes & repeats	Dnd41	blood
29	chr6:57257600-57257800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:57257600-57267400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:57257800-57260200	Weak transcription	Dnd41	blood
32	chr6:57258000-57258400	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr6:57258200-57258600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:57260400-57263800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:57261000-57263800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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