Variant report

Variant	esv3414525
Chromosome Location	chr6:11538747-11539246
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	chr19:47291454..47293291-chr6:11538059..11540323,2	MCF-7	breast:
2	chr6:11539069..11540912-chr6:11545787..11548453,2	K562	blood:

Variant related genes	Relation type
ENSG00000105281	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188266759	chr6:11538778-11538779	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531768219	chr6:11538828-11538829	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551903181	chr6:11538837-11538838	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571810647	chr6:11538841-11538842	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534312063	chr6:11538875-11538876	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113860536	chr6:11538913-11538914	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554027475	chr6:11538916-11538917	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567871116	chr6:11538928-11538929	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536528233	chr6:11538931-11538932	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556466832	chr6:11538938-11538939	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574888893	chr6:11538959-11538960	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541763780	chr6:11538995-11538996	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543844505	chr6:11539002-11539003	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150265156	chr6:11539009-11539010	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs6938970	chr6:11539072-11539073	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527373611	chr6:11539182-11539183	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79238406	chr6:11539193-11539194	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560057692	chr6:11539222-11539223	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138537615	chr6:11539226-11539227	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529124895	chr6:11539236-11539237	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73357826	chr6:11539242-11539243	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11536400-11540400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:11536800-11539200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:11536800-11539200	Active TSS	Psoas Muscle	Psoas
4	chr6:11536800-11539400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:11536800-11539400	Active TSS	Fetal Intestine Small	intestine
6	chr6:11536800-11539600	Active TSS	A549	lung
7	chr6:11536800-11540000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr6:11536800-11540400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:11537000-11538800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:11537000-11538800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr6:11537000-11538800	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr6:11537000-11539000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr6:11537000-11539000	Active TSS	Brain Hippocampus Middle	brain
14	chr6:11537000-11539000	Active TSS	Pancreas	Pancrea
15	chr6:11537000-11539000	Bivalent/Poised TSS	HepG2	liver
16	chr6:11537000-11539000	Active TSS	HSMM	muscle
17	chr6:11537000-11539200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:11537000-11539200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:11537000-11539200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:11537000-11539200	Active TSS	Brain Substantia Nigra	brain
21	chr6:11537000-11539200	Active TSS	Colonic Mucosa	Colon
22	chr6:11537000-11539200	Active TSS	Colon Smooth Muscle	Colon
23	chr6:11537000-11539200	Active TSS	Fetal Kidney	kidney
24	chr6:11537000-11539200	Active TSS	Left Ventricle	heart
25	chr6:11537000-11539200	Active TSS	Ovary	ovary
26	chr6:11537000-11539200	Active TSS	Right Ventricle	heart
27	chr6:11537000-11539200	Active TSS	NHDF-Ad	bronchial
28	chr6:11537000-11539400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:11537000-11539600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr6:11537000-11540000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:11537000-11540000	Active TSS	Brain Anterior Caudate	brain
32	chr6:11537000-11540000	Active TSS	Right Atrium	heart
33	chr6:11537000-11540200	Active TSS	Brain Cingulate Gyrus	brain
34	chr6:11537000-11540400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:11537000-11540600	Active TSS	Brain Angular Gyrus	brain
36	chr6:11537200-11538800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:11537200-11538800	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr6:11537200-11538800	Active TSS	Stomach Smooth Muscle	stomach
39	chr6:11537200-11539000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:11537200-11539000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:11537200-11539000	Active TSS	Fetal Intestine Large	intestine
42	chr6:11537200-11539000	Active TSS	Gastric	stomach
43	chr6:11537200-11539200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:11537200-11539400	Active TSS	HSMMtube	muscle
45	chr6:11537400-11538800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:11537400-11538800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:11537400-11538800	Active TSS	Primary B cells from peripheral blood	blood
48	chr6:11537400-11538800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr6:11537400-11538800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr6:11537400-11538800	Active TSS	Muscle Satellite Cultured Cells	--

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