Variant report

Variant	esv3518532
Chromosome Location	chr3:143068444-143070888
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143063232..143067878-chr3:143069249..143072270,4	K562	blood:
2	chr3:143068671..143071346-chr3:143094512..143096094,2	K562	blood:
3	chr3:143067407..143070275-chr3:143070777..143072704,2	K562	blood:
4	chr3:143067407..143070275-chr3:143070777..143072704,2	K562	blood:
5	chr3:143067819..143069970-chr3:143072311..143075469,3	K562	blood:
6	chr3:143032733..143035249-chr3:143069425..143071800,2	K562	blood:
7	chr3:143070031..143071586-chr3:143073564..143076244,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000240888	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34866169	chr3:143068463-143068464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74561965	chr3:143068486-143068487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185162274	chr3:143068491-143068492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577417921	chr3:143068494-143068495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538539988	chr3:143068516-143068517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112788003	chr3:143068535-143068536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574999303	chr3:143068538-143068539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542024459	chr3:143068542-143068543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544334988	chr3:143068545-143068546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560249567	chr3:143068595-143068596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193238987	chr3:143068599-143068600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545842454	chr3:143068606-143068607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564133228	chr3:143068669-143068670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531557429	chr3:143068709-143068710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550870765	chr3:143068720-143068721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142938427	chr3:143068728-143068729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114141073	chr3:143068749-143068750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145135496	chr3:143068758-143068759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566617156	chr3:143068782-143068783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374274835	chr3:143068783-143068784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552260891	chr3:143068785-143068786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570429990	chr3:143068795-143068796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111828520	chr3:143068818-143068819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530928414	chr3:143068904-143068905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560835239	chr3:143068916-143068917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138966600	chr3:143068925-143068926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568645822	chr3:143068938-143068939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111544803	chr3:143068958-143068959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542681502	chr3:143068997-143068998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553945225	chr3:143069052-143069053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561350468	chr3:143069066-143069067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572249346	chr3:143069081-143069082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72992112	chr3:143069097-143069098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542021604	chr3:143069142-143069143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557941192	chr3:143069158-143069159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576397667	chr3:143069159-143069160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543435472	chr3:143069216-143069217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562828080	chr3:143069218-143069219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547121795	chr3:143069224-143069225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75488667	chr3:143069269-143069270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542085137	chr3:143069299-143069300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560398630	chr3:143069303-143069304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6775025	chr3:143069304-143069305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs551253855	chr3:143069351-143069352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570418879	chr3:143069390-143069391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369406154	chr3:143069419-143069420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184468215	chr3:143069429-143069430	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs188277573	chr3:143069448-143069449	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142207071	chr3:143069473-143069474	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs535740792	chr3:143069490-143069491	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143063600-143076400	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143064600-143070800	Weak transcription	Ovary	ovary
3	chr3:143066000-143069000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr3:143066200-143069200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr3:143066400-143068600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:143066400-143068800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr3:143066600-143068600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:143066800-143069000	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:143066800-143069000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:143067000-143069200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:143067200-143069400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:143067400-143068600	Enhancers	GM12878-XiMat	blood
13	chr3:143067400-143068800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:143067600-143068800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:143067600-143069200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:143068000-143069000	Enhancers	Primary T cells from cord blood	blood
17	chr3:143068000-143069200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr3:143068000-143071600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr3:143068000-143072000	Weak transcription	Placenta	Placenta
20	chr3:143068200-143070400	Weak transcription	Primary B cells from cord blood	blood
21	chr3:143068200-143071600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:143068200-143071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:143068200-143078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr3:143068200-143091800	Weak transcription	Lung	lung
25	chr3:143068400-143069600	Weak transcription	Dnd41	blood
26	chr3:143068400-143070800	Weak transcription	Fetal Thymus	thymus
27	chr3:143068400-143071200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:143068800-143082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:143069000-143070800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:143069000-143070800	Weak transcription	Primary T cells from cord blood	blood
31	chr3:143069000-143080800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:143069000-143081600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr3:143069200-143069600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr3:143069200-143070800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr3:143069200-143071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:143069200-143080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:143069600-143069800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:143069600-143072400	Enhancers	Dnd41	blood
39	chr3:143069800-143081200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr3:143070000-143070200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:143070000-143070400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:143070000-143071000	Enhancers	Fetal Kidney	kidney
43	chr3:143070000-143072600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:143070200-143070600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:143070200-143071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:143070200-143088600	Weak transcription	Aorta	Aorta
47	chr3:143070400-143072400	Enhancers	Primary B cells from cord blood	blood
48	chr3:143070800-143071000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:143070800-143071200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:143070800-143071200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links