Variant report

Variant	esv3324951
Chromosome Location	chr3:99626762-99631260
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	chr3:99624361..99628142-chr3:99629982..99633873,3	MCF-7	breast:
2	chr3:99622083..99624890-chr3:99625118..99628705,4	MCF-7	breast:
3	chr3:99628880..99629497-chr3:99663053..99663668,2	MCF-7	breast:
4	chr3:99627181..99629035-chr3:99632871..99635218,2	MCF-7	breast:
5	chr3:99624361..99628142-chr3:99629982..99633873,3	MCF-7	breast:
6	chr3:99629219..99631187-chr3:99636036..99638648,2	MCF-7	breast:
7	chr3:99626736..99629187-chr3:99773539..99775564,2	MCF-7	breast:
8	chr3:99594614..99596231-chr3:99626754..99629032,2	MCF-7	breast:
9	chr3:99595655..99597769-chr3:99630372..99633111,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168386	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574232792	chr3:99626764-99626765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533415443	chr3:99626769-99626770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2128141	chr3:99626792-99626793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563170498	chr3:99626844-99626845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530592196	chr3:99626859-99626860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576684846	chr3:99626873-99626874	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2128142	chr3:99626882-99626883	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543712962	chr3:99626891-99626892	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2128143	chr3:99626914-99626915	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs564185988	chr3:99626916-99626917	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs80037618	chr3:99626972-99626973	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543206723	chr3:99627022-99627023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2128144	chr3:99627048-99627049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547064874	chr3:99627053-99627054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114761991	chr3:99627149-99627150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186123568	chr3:99627160-99627161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144096353	chr3:99627177-99627178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569447102	chr3:99627301-99627302	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539601818	chr3:99627319-99627320	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558428152	chr3:99627326-99627327	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374199598	chr3:99627337-99627338	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567097991	chr3:99627358-99627359	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534210722	chr3:99627362-99627363	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190984452	chr3:99627425-99627426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13082186	chr3:99627426-99627427	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541547944	chr3:99627443-99627444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556606064	chr3:99627487-99627488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181376470	chr3:99627577-99627578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545633224	chr3:99627667-99627668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139295068	chr3:99627669-99627670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs559418571	chr3:99627678-99627679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528418724	chr3:99627684-99627685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547022414	chr3:99627692-99627693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141511080	chr3:99627695-99627696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527523023	chr3:99627716-99627717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529268576	chr3:99627724-99627725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs793465	chr3:99627750-99627751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs562793764	chr3:99627756-99627757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571149604	chr3:99627791-99627792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551726385	chr3:99627832-99627833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150860933	chr3:99627837-99627838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534249008	chr3:99627882-99627883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139315911	chr3:99627897-99627898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567733439	chr3:99627914-99627915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535043894	chr3:99627981-99627982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150002637	chr3:99627987-99627988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531653691	chr3:99627988-99627989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539512317	chr3:99628012-99628013	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557704705	chr3:99628031-99628032	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573055791	chr3:99628055-99628056	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Neurodevelopmental disorder	22521361	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99619600-99644400	Weak transcription	Right Ventricle	heart
5	chr3:99620000-99629800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:99620000-99638600	Weak transcription	Small Intestine	intestine
7	chr3:99620800-99628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:99620800-99628600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:99621200-99628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:99621200-99638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:99621400-99626800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:99621400-99627200	Weak transcription	Stomach Mucosa	stomach
13	chr3:99621400-99628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:99621400-99628600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:99621400-99629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:99621600-99628600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:99623000-99626800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:99623000-99628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:99623000-99628600	Weak transcription	HUVEC	blood vessel
20	chr3:99623000-99629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:99623200-99626800	Weak transcription	A549	lung
22	chr3:99623200-99626800	Weak transcription	NHEK	skin
23	chr3:99623200-99628000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:99623200-99628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:99623200-99629400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:99623800-99627800	Weak transcription	HMEC	breast
27	chr3:99624200-99627200	Weak transcription	Hela-S3	cervix
28	chr3:99624200-99628200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:99624200-99628200	Weak transcription	Osteobl	bone
30	chr3:99624200-99628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:99624800-99628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:99624800-99628600	Weak transcription	NHDF-Ad	bronchial
33	chr3:99625000-99632800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:99625000-99639400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:99626200-99630000	Enhancers	HepG2	liver
36	chr3:99626400-99626800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:99626400-99628200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr3:99626600-99626800	Enhancers	Fetal Muscle Leg	muscle
39	chr3:99626600-99626800	Enhancers	Psoas Muscle	Psoas
40	chr3:99626600-99627200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:99626600-99627200	Enhancers	K562	blood
42	chr3:99626600-99627400	Enhancers	HSMM	muscle
43	chr3:99626600-99627600	Enhancers	HSMMtube	muscle
44	chr3:99626600-99629000	Enhancers	Liver	Liver
45	chr3:99626800-99627000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr3:99626800-99627200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr3:99626800-99627200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr3:99626800-99627200	Weak transcription	Psoas Muscle	Psoas
49	chr3:99626800-99628600	Enhancers	A549	lung
50	chr3:99626800-99629800	Weak transcription	Fetal Muscle Leg	muscle

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