Variant report

Variant	esv1821963
Chromosome Location	chr3:191061952-191071078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
2	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
3	chr3:191064142..191066044-chr3:191070268..191071943,3	K562	blood:
4	chr3:191060607..191064094-chr3:191071227..191073545,3	K562	blood:
5	chr3:191059352..191066044-chr3:191070268..191075568,9	K562	blood:
6	chr3:191047039..191048673-chr3:191068047..191069756,2	MCF-7	breast:
7	chr3:191059991..191062232-chr3:191093910..191095757,2	MCF-7	breast:
8	chr3:191059352..191062066-chr3:191073918..191075676,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188958	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372078806	chr3:191062055-191062056	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577638126	chr3:191062064-191062065	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192261905	chr3:191062067-191062068	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559405624	chr3:191062079-191062080	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9860740	chr3:191062080-191062081	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541908958	chr3:191062087-191062088	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561586438	chr3:191062102-191062103	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112969629	chr3:191062103-191062104	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530617340	chr3:191062229-191062230	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550551275	chr3:191062334-191062335	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113570154	chr3:191062360-191062361	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371860207	chr3:191062361-191062362	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561592234	chr3:191062364-191062365	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376114379	chr3:191062383-191062384	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12636482	chr3:191062391-191062392	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533093751	chr3:191062398-191062399	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7640087	chr3:191062399-191062400	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12636442	chr3:191062408-191062409	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145964278	chr3:191062420-191062421	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555056408	chr3:191062482-191062483	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112080486	chr3:191062549-191062550	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537530828	chr3:191062560-191062561	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375839554	chr3:191062577-191062578	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557621818	chr3:191062600-191062601	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571631318	chr3:191062619-191062620	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139827458	chr3:191062620-191062621	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143187096	chr3:191062630-191062631	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553654054	chr3:191062647-191062648	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572802527	chr3:191062657-191062658	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541499638	chr3:191062668-191062669	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182679536	chr3:191062673-191062674	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530551148	chr3:191062700-191062701	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544281806	chr3:191062721-191062722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563959249	chr3:191062731-191062732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532933343	chr3:191062741-191062742	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56772293	chr3:191062751-191062752	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570730158	chr3:191062768-191062769	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs55827603	chr3:191062783-191062784	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556413300	chr3:191062918-191062919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529179736	chr3:191062950-191062951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151133567	chr3:191062969-191062970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568425204	chr3:191062975-191062976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537164226	chr3:191062986-191062987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557461336	chr3:191063008-191063009	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs117964725	chr3:191063016-191063017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555140196	chr3:191063096-191063097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140396585	chr3:191063103-191063104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149944459	chr3:191063172-191063173	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111616412	chr3:191063173-191063174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576371562	chr3:191063337-191063338	Weak transcription Enhancers Flanking Active TSS	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:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191050200-191074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:191052200-191062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:191055600-191062000	Enhancers	HepG2	liver
4	chr3:191056200-191062200	Enhancers	Fetal Brain Male	brain
5	chr3:191056200-191063400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:191056800-191062000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:191057400-191062000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr3:191057800-191062600	Weak transcription	Aorta	Aorta
9	chr3:191058800-191063400	Enhancers	Colon Smooth Muscle	Colon
10	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:191059200-191062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:191059200-191062200	Enhancers	Osteobl	bone
13	chr3:191059200-191063400	Enhancers	Adipose Nuclei	Adipose
14	chr3:191059400-191062000	Enhancers	NHLF	lung
15	chr3:191059400-191062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:191059400-191063600	Enhancers	Fetal Heart	heart
17	chr3:191059600-191062600	Weak transcription	GM12878-XiMat	blood
18	chr3:191059600-191062800	Weak transcription	Small Intestine	intestine
19	chr3:191059600-191069800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:191059800-191062000	Enhancers	Fetal Lung	lung
21	chr3:191060000-191062000	Enhancers	HSMM	muscle
22	chr3:191060000-191062200	Enhancers	Fetal Brain Female	brain
23	chr3:191060400-191062000	Enhancers	NHDF-Ad	bronchial
24	chr3:191060400-191063200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:191060600-191064600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:191060600-191065400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:191060600-191068000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr3:191060600-191074800	Weak transcription	Primary B cells from cord blood	blood
29	chr3:191060800-191062000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:191060800-191062200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:191060800-191068400	Weak transcription	Stomach Mucosa	stomach
32	chr3:191061000-191062000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:191061000-191062800	Weak transcription	Brain Anterior Caudate	brain
34	chr3:191061000-191064200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:191061000-191064400	Weak transcription	Right Ventricle	heart
36	chr3:191061000-191065200	Weak transcription	A549	lung
37	chr3:191061000-191068200	Weak transcription	Right Atrium	heart
38	chr3:191061000-191068400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:191061000-191069400	Weak transcription	Spleen	Spleen
40	chr3:191061000-191070800	Weak transcription	Lung	lung
41	chr3:191061200-191062600	Weak transcription	Brain Substantia Nigra	brain
42	chr3:191061200-191062600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:191061200-191062800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:191061200-191068200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:191061200-191073200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:191061200-191073200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:191061400-191064200	Weak transcription	HUVEC	blood vessel
48	chr3:191061600-191062000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:191061600-191062000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:191061600-191062000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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