Variant report

Variant	esv1795621
Chromosome Location	chr3:119344693-119353995
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
2	chr3:119297851..119299731-chr3:119347893..119350770,2	MCF-7	breast:
3	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
4	chr3:119265125..119267383-chr3:119346773..119348638,2	K562	blood:
5	chr3:119348305..119350713-chr3:119351647..119354186,2	MCF-7	breast:
6	chr3:119326064..119328703-chr3:119343379..119345422,2	MCF-7	breast:
7	chr3:119337629..119339642-chr3:119343042..119344832,3	K562	blood:
8	chr3:119298163..119299885-chr3:119348210..119351201,3	MCF-7	breast:
9	chr3:119297207..119300144-chr3:119352679..119354693,2	MCF-7	breast:
10	chr3:119326194..119327898-chr3:119353631..119355784,2	K562	blood:
11	chr3:119349377..119351910-chr3:119353160..119355843,2	K562	blood:
12	chr3:119344313..119346275-chr3:119356031..119358042,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144837	chromatin interactions
ENSG00000272967	chromatin interactions
ENSG00000144843	chromatin interactions
ENSG00000242052	chromatin interactions

Extended variants
information (count: 398 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs483349	chr3:119344693-119344694	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144667059	chr3:119344748-119344749	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548886426	chr3:119344773-119344774	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567248858	chr3:119344778-119344779	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547914522	chr3:119344795-119344796	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76221205	chr3:119344834-119344835	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144483787	chr3:119344840-119344841	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114446049	chr3:119344893-119344894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538367909	chr3:119344921-119344922	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556985827	chr3:119344926-119344927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568313198	chr3:119344955-119344956	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375067442	chr3:119345012-119345013	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147830449	chr3:119345018-119345019	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536273612	chr3:119345023-119345024	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200314402	chr3:119345028-119345029	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181615904	chr3:119345063-119345064	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574426355	chr3:119345105-119345106	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112475761	chr3:119345148-119345149	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112658982	chr3:119345156-119345157	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77772749	chr3:119345160-119345161	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557070087	chr3:119345199-119345200	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533635231	chr3:119345214-119345215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578093333	chr3:119345220-119345221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545186212	chr3:119345252-119345253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs375018764	chr3:119345299-119345300	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185985803	chr3:119345313-119345314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575625225	chr3:119345319-119345320	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3755578	chr3:119345336-119345337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs28777378	chr3:119345342-119345343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528414272	chr3:119345346-119345347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190445431	chr3:119345408-119345409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564951741	chr3:119345513-119345514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183432102	chr3:119345543-119345544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550482048	chr3:119345592-119345593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74709628	chr3:119345594-119345595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187176393	chr3:119345625-119345626	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2670288	chr3:119345630-119345631	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs564609284	chr3:119345697-119345698	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191045711	chr3:119345709-119345710	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536179061	chr3:119345740-119345741	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs182391800	chr3:119345747-119345748	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs188325144	chr3:119345757-119345758	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553666650	chr3:119345768-119345769	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75121243	chr3:119345771-119345772	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539248553	chr3:119345792-119345793	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557255441	chr3:119345808-119345809	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs116882776	chr3:119345851-119345852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191871731	chr3:119345852-119345853	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560958053	chr3:119345886-119345887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572869336	chr3:119345887-119345888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119320200-119345000	Weak transcription	Right Ventricle	heart
2	chr3:119322200-119349200	Weak transcription	Gastric	stomach
3	chr3:119340800-119357600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:119341400-119364600	Weak transcription	Liver	Liver
5	chr3:119342200-119345200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:119342400-119346400	Enhancers	GM12878-XiMat	blood
7	chr3:119342600-119346600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:119343200-119349200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:119343800-119349200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:119343800-119351400	Enhancers	Psoas Muscle	Psoas
11	chr3:119344000-119345200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:119344000-119345200	Enhancers	Fetal Heart	heart
13	chr3:119344000-119345800	Enhancers	Right Atrium	heart
14	chr3:119344000-119347600	Enhancers	Lung	lung
15	chr3:119344200-119344800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:119344200-119345200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr3:119344200-119345200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:119344200-119345400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:119344200-119345400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:119344200-119345600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:119344200-119349600	Enhancers	Spleen	Spleen
22	chr3:119344400-119345000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:119344400-119345400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:119344400-119345400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:119344400-119346000	Enhancers	Placenta	Placenta
26	chr3:119344400-119348400	Enhancers	Left Ventricle	heart
27	chr3:119344400-119351000	Weak transcription	Pancreas	Pancrea
28	chr3:119344600-119344800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr3:119344600-119345000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:119344600-119345000	Enhancers	K562	blood
31	chr3:119344600-119345200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr3:119344600-119346600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:119344600-119346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:119344600-119352000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:119344800-119345000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr3:119344800-119345200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:119344800-119345200	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr3:119344800-119345600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:119344800-119346400	Weak transcription	Ovary	ovary
40	chr3:119344800-119350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:119345000-119345200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:119345000-119348200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:119345000-119349800	Enhancers	Right Ventricle	heart
44	chr3:119345000-119350000	Enhancers	Adipose Nuclei	Adipose
45	chr3:119345200-119345600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:119345200-119345800	Enhancers	Brain Hippocampus Middle	brain
47	chr3:119345200-119347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr3:119345200-119348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:119345200-119349400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr3:119345200-119350800	Weak transcription	Fetal Heart	heart

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