Variant report

Variant	esv2447293
Chromosome Location	chr3:121522240-121524036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121522927..121524938-chr3:121541691..121544252,2	MCF-7	breast:
2	chr3:121523456..121525541-chr3:121550635..121553696,3	K562	blood:
3	chr3:121515767..121519449-chr3:121522232..121524436,3	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576800380	chr3:121522240-121522241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191427090	chr3:121522310-121522311	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555429160	chr3:121522313-121522314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527660089	chr3:121522321-121522322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77619956	chr3:121522323-121522324	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71133572	chr3:121522355-121522356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147006350	chr3:121522356-121522357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77320140	chr3:121522357-121522358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397828396	chr3:121522358-121522359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141835484	chr3:121522359-121522360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144786808	chr3:121522360-121522361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145429037	chr3:121522361-121522362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199929507	chr3:121522370-121522371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201016659	chr3:121522372-121522373	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564562257	chr3:121522539-121522540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183173304	chr3:121522570-121522571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552342547	chr3:121522609-121522610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568749603	chr3:121522652-121522653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537732774	chr3:121522686-121522687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548107563	chr3:121522724-121522725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146613415	chr3:121522797-121522798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545830288	chr3:121522837-121522838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35285408	chr3:121522850-121522851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76080408	chr3:121522867-121522868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187948735	chr3:121522914-121522915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192066785	chr3:121522936-121522937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4257594	chr3:121522944-121522945	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs556781692	chr3:121522964-121522965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11715951	chr3:121522968-121522969	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556730265	chr3:121523010-121523011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140164618	chr3:121523024-121523025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185326395	chr3:121523026-121523027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189390130	chr3:121523031-121523032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572657663	chr3:121523044-121523045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114872067	chr3:121523045-121523046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564368733	chr3:121523158-121523159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533453965	chr3:121523172-121523173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4257595	chr3:121523212-121523213	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs562320392	chr3:121523234-121523235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60154494	chr3:121523252-121523253	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs192956793	chr3:121523281-121523282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567968305	chr3:121523345-121523346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184169790	chr3:121523445-121523446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547361005	chr3:121523448-121523449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143912314	chr3:121523471-121523472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550196977	chr3:121523520-121523521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188223756	chr3:121523575-121523576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146651831	chr3:121523594-121523595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569784528	chr3:121523597-121523598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75384770	chr3:121523602-121523603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121486200-121526600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121486800-121532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:121489800-121529800	Weak transcription	Aorta	Aorta
4	chr3:121490000-121529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:121490000-121529800	Weak transcription	Pancreas	Pancrea
6	chr3:121491600-121552600	Weak transcription	NHLF	lung
7	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
8	chr3:121494400-121530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:121500200-121524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:121500600-121528200	Weak transcription	Brain Angular Gyrus	brain
12	chr3:121501200-121524000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:121501400-121529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:121504800-121524000	Weak transcription	Hela-S3	cervix
15	chr3:121505800-121523600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:121506400-121529800	Weak transcription	Fetal Stomach	stomach
17	chr3:121507000-121529800	Weak transcription	Colonic Mucosa	Colon
18	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
19	chr3:121507200-121536000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:121508000-121523600	Weak transcription	Fetal Brain Female	brain
21	chr3:121508000-121525000	Weak transcription	Thymus	Thymus
22	chr3:121508000-121529800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:121508200-121535800	Weak transcription	Psoas Muscle	Psoas
24	chr3:121508400-121523200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:121508400-121524400	Weak transcription	Left Ventricle	heart
26	chr3:121508400-121524400	Weak transcription	Lung	lung
27	chr3:121508400-121529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:121508400-121529800	Weak transcription	Esophagus	oesophagus
29	chr3:121508400-121536400	Weak transcription	HUVEC	blood vessel
30	chr3:121508600-121523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:121508600-121523400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:121508600-121523600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:121508600-121524800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:121508600-121525000	Weak transcription	Brain Anterior Caudate	brain
35	chr3:121508600-121529600	Weak transcription	Brain Substantia Nigra	brain
36	chr3:121508600-121529800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:121508600-121529800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:121508600-121529800	Weak transcription	NHEK	skin
39	chr3:121508600-121541400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr3:121508800-121523600	Weak transcription	HMEC	breast
41	chr3:121508800-121524400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:121508800-121525200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr3:121508800-121530000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:121508800-121530200	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:121509000-121523000	Weak transcription	Fetal Lung	lung
46	chr3:121509000-121523400	Weak transcription	HepG2	liver
47	chr3:121509000-121523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:121509000-121523600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr3:121509000-121524200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:121509000-121524400	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links