Variant report

Variant	esv3344968
Chromosome Location	chr3:194821488-194824036
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194817667..194819291-chr3:194820083..194822467,2	MCF-7	breast:
2	chr3:194819792..194821341-chr3:194822667..194825167,2	MCF-7	breast:
3	chr3:194653132..194655488-chr3:194818739..194821683,2	MCF-7	breast:
4	chr3:194735046..194736581-chr3:194820848..194823359,2	K562	blood:
5	chr3:194817020..194819382-chr3:194820062..194821788,3	K562	blood:
6	chr3:194783220..194785678-chr3:194823694..194826162,2	K562	blood:
7	chr3:194813898..194816593-chr3:194822783..194824475,2	K562	blood:
8	chr3:194822394..194825195-chr3:194825824..194828590,3	K562	blood:
9	chr3:194814998..194816504-chr3:194822163..194824856,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233303	chromatin interactions
ENSG00000173950	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116780786	chr3:194821500-194821501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144011979	chr3:194821506-194821507	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537473026	chr3:194821511-194821512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189562976	chr3:194821541-194821542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549496070	chr3:194821568-194821569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558149032	chr3:194821591-194821592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6795886	chr3:194821599-194821600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543651307	chr3:194821621-194821622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112021935	chr3:194821623-194821624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549044900	chr3:194821665-194821666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555493493	chr3:194821722-194821723	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs56879987	chr3:194821752-194821753	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541498268	chr3:194821758-194821759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559843632	chr3:194821782-194821783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527276562	chr3:194821797-194821798	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182168108	chr3:194821798-194821799	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113587633	chr3:194821813-194821814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs952483	chr3:194821902-194821903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150925049	chr3:194821914-194821915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139534114	chr3:194821926-194821927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs185648191	chr3:194821938-194821939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs952482	chr3:194821939-194821940	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374156455	chr3:194821954-194821955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs149682841	chr3:194821969-194821970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73890674	chr3:194821970-194821971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs117193380	chr3:194822002-194822003	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111533260	chr3:194822005-194822006	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112261416	chr3:194822027-194822028	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs952481	chr3:194822098-194822099	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141702260	chr3:194822109-194822110	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541261598	chr3:194822159-194822160	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191326401	chr3:194822173-194822174	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572155876	chr3:194822204-194822205	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545586054	chr3:194822214-194822215	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564071405	chr3:194822248-194822249	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56869746	chr3:194822251-194822252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs147116526	chr3:194822265-194822266	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369058293	chr3:194822300-194822301	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs561988657	chr3:194822304-194822305	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529081265	chr3:194822308-194822309	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547650297	chr3:194822359-194822360	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559589333	chr3:194822375-194822376	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147755643	chr3:194822390-194822391	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs9869581	chr3:194822391-194822392	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569998018	chr3:194822415-194822416	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs79740932	chr3:194822441-194822442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549250956	chr3:194822471-194822472	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555615119	chr3:194822510-194822511	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575671153	chr3:194822543-194822544	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567659764	chr3:194822571-194822572	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Autosomal-dominant optic trophy	21036400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194791000-194821800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:194802000-194826800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:194806800-194826400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:194808400-194823000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:194808600-194823000	Weak transcription	K562	blood
6	chr3:194808600-194827000	Weak transcription	Fetal Brain Female	brain
7	chr3:194808800-194824800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:194814400-194823000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:194814600-194827800	Enhancers	Fetal Heart	heart
10	chr3:194815200-194826800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:194815400-194821600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:194815400-194827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:194815800-194824400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:194815800-194827000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
16	chr3:194816000-194823000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:194816000-194826800	Weak transcription	Fetal Stomach	stomach
18	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:194816200-194823000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:194816200-194823600	Enhancers	Primary B cells from peripheral blood	blood
21	chr3:194816200-194824000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:194816200-194825000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:194816400-194821600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:194816400-194823000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:194816400-194823600	Weak transcription	HSMMtube	muscle
26	chr3:194816400-194825000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:194816400-194827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:194816600-194826800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:194816800-194824200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr3:194817200-194823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:194817200-194831200	Weak transcription	Gastric	stomach
32	chr3:194817400-194823000	Weak transcription	Fetal Intestine Small	intestine
33	chr3:194817400-194824400	Weak transcription	HepG2	liver
34	chr3:194817600-194821600	Weak transcription	NHLF	lung
35	chr3:194817600-194825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:194817800-194823000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:194818200-194822000	Enhancers	Primary B cells from cord blood	blood
38	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr3:194818400-194822600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:194818600-194821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:194818600-194824400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:194818800-194826200	Weak transcription	Thymus	Thymus
43	chr3:194819000-194823600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:194819000-194823600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:194819000-194826800	Weak transcription	Dnd41	blood
46	chr3:194819600-194821600	Weak transcription	Fetal Thymus	thymus
47	chr3:194820200-194823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:194820600-194821600	Enhancers	GM12878-XiMat	blood
49	chr3:194820600-194824000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:194820800-194821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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