Variant report

Variant	esv3359823
Chromosome Location	chr6:64380870-64381012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64380122..64383358-chr6:64384365..64386377,3	K562	blood:
2	chr6:64380808..64382949-chr6:64384365..64385905,2	K562	blood:
3	chr6:64345767..64348847-chr6:64379987..64384270,3	K562	blood:

Variant related genes	Relation type
ENSG00000118482	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535596508	chr6:64380871-64380872	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182568152	chr6:64380879-64380880	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58429651	chr6:64380888-64380889	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs114367161	chr6:64380896-64380897	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557759955	chr6:64380961-64380962	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375430780	chr6:64380982-64380983	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs563692137	chr6:64381007-64381008	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74651814	chr6:64381008-64381009	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64347000-64383200	Weak transcription	Esophagus	oesophagus
2	chr6:64347000-64422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:64347600-64381000	Weak transcription	Fetal Thymus	thymus
4	chr6:64347800-64386400	Weak transcription	Colonic Mucosa	Colon
5	chr6:64350200-64381200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:64350200-64382800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:64351200-64385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:64351200-64405000	Weak transcription	Thymus	Thymus
9	chr6:64354000-64421200	Weak transcription	Gastric	stomach
10	chr6:64354200-64383600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:64355200-64381600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:64357400-64381200	Weak transcription	Dnd41	blood
13	chr6:64357800-64393400	Weak transcription	Placenta	Placenta
14	chr6:64358400-64382800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:64363200-64382800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:64365200-64387000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:64365400-64386400	Weak transcription	Spleen	Spleen
18	chr6:64365800-64409400	Weak transcription	Fetal Stomach	stomach
19	chr6:64366600-64382400	Weak transcription	Fetal Lung	lung
20	chr6:64368000-64381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:64370800-64383000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:64370800-64383400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:64370800-64395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:64370800-64413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:64371000-64381200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:64371000-64381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:64371000-64394200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:64371000-64409000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:64371400-64383200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:64371400-64383200	Weak transcription	Liver	Liver
31	chr6:64373600-64382600	Weak transcription	Ovary	ovary
32	chr6:64373800-64383400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:64373800-64384600	Weak transcription	Adipose Nuclei	Adipose
34	chr6:64373800-64386400	Weak transcription	Pancreas	Pancrea
35	chr6:64373800-64394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:64373800-64394600	Weak transcription	HSMMtube	muscle
37	chr6:64373800-64394800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:64374000-64381200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:64374000-64384400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr6:64374000-64384600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:64374000-64384800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:64374000-64386200	Weak transcription	NHDF-Ad	bronchial
43	chr6:64374000-64387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:64374000-64391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:64374200-64381200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:64374200-64381200	Weak transcription	Psoas Muscle	Psoas
47	chr6:64374200-64384400	Weak transcription	Brain Hippocampus Middle	brain
48	chr6:64374200-64384400	Weak transcription	Colon Smooth Muscle	Colon
49	chr6:64374200-64385400	Weak transcription	Brain Anterior Caudate	brain
50	chr6:64374200-64386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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