Variant report

Variant	esv3463845
Chromosome Location	chr3:191063058-191070856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
2	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
3	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
4	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
5	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
6	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188958	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:276 , 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	rs555140196	chr3:191063096-191063097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140396585	chr3:191063103-191063104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149944459	chr3:191063172-191063173	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs111616412	chr3:191063173-191063174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576371562	chr3:191063337-191063338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188866687	chr3:191063348-191063349	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548927884	chr3:191063419-191063420	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs201256127	chr3:191063471-191063472	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568815173	chr3:191063493-191063494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541899531	chr3:191063524-191063525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145038742	chr3:191063534-191063535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145093554	chr3:191063553-191063554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs543927623	chr3:191063567-191063568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs193207746	chr3:191063619-191063620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142163773	chr3:191063639-191063640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185210521	chr3:191063675-191063676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs6777160	chr3:191063680-191063681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72208279	chr3:191063693-191063694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6801942	chr3:191063743-191063744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs549225072	chr3:191063766-191063767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188922624	chr3:191063886-191063887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530887073	chr3:191063887-191063888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146626678	chr3:191063902-191063903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191797765	chr3:191063965-191063966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377671483	chr3:191063973-191063974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539935378	chr3:191063984-191063985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183916275	chr3:191063992-191063993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115227932	chr3:191064030-191064031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535790811	chr3:191064067-191064068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371250017	chr3:191064085-191064086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556000932	chr3:191064090-191064091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188407898	chr3:191064103-191064104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537409720	chr3:191064128-191064129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180945852	chr3:191064228-191064229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185891607	chr3:191064267-191064268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539922794	chr3:191064287-191064288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564237632	chr3:191064305-191064306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560104463	chr3:191064334-191064335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573751640	chr3:191064342-191064343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542560816	chr3:191064352-191064353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190412052	chr3:191064357-191064358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147898191	chr3:191064368-191064369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551039771	chr3:191064441-191064442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4677735	chr3:191064528-191064529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs533501769	chr3:191064567-191064568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182347271	chr3:191064568-191064569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566976016	chr3:191064632-191064633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16866496	chr3:191064647-191064648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375684484	chr3:191064686-191064687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141621183	chr3:191064773-191064774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
4	chr3:191059200-191063400	Enhancers	Adipose Nuclei	Adipose
5	chr3:191059400-191063600	Enhancers	Fetal Heart	heart
6	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:191060400-191063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:191060600-191064600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:191060600-191065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
12	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
13	chr3:191061000-191064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:191061000-191064400	Weak transcription	Right Ventricle	heart
15	chr3:191061000-191065200	Weak transcription	A549	lung
16	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
17	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
19	chr3:191061000-191070800	Weak transcription	Lung	lung
20	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:191061400-191064200	Weak transcription	HUVEC	blood vessel
24	chr3:191061600-191068000	Weak transcription	Hela-S3	cervix
25	chr3:191061800-191063600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:191061800-191067800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:191062000-191064600	Weak transcription	Fetal Lung	lung
28	chr3:191062000-191064800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:191062000-191065000	Weak transcription	NHLF	lung
30	chr3:191062000-191065800	Weak transcription	HepG2	liver
31	chr3:191062000-191066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:191062000-191067800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:191062000-191067800	Weak transcription	NH-A	brain
34	chr3:191062000-191069200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:191062000-191075600	Weak transcription	K562	blood
36	chr3:191062200-191068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:191062200-191068000	Weak transcription	Fetal Brain Male	brain
38	chr3:191062200-191068200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:191062200-191075400	Weak transcription	Fetal Brain Female	brain
40	chr3:191062400-191063200	Enhancers	Liver	Liver
41	chr3:191062400-191063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:191062400-191063800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr3:191062600-191063400	Enhancers	Psoas Muscle	Psoas
44	chr3:191062600-191063400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr3:191062600-191063600	Enhancers	Osteobl	bone
46	chr3:191062600-191063800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:191062600-191070800	Weak transcription	Pancreas	Pancrea
48	chr3:191062800-191063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:191062800-191063400	Enhancers	Brain Anterior Caudate	brain
50	chr3:191062800-191063400	Enhancers	Small Intestine	intestine

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