Variant report

Variant	esv1797357
Chromosome Location	chr3:196057616-196062278
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196057685..196059203-chr3:196062080..196064140,2	MCF-7	breast:
2	chr3:196012576..196016636-chr3:196061383..196069148,11	K562	blood:
3	chr3:196043597..196046565-chr3:196058227..196060990,3	K562	blood:
4	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
5	chr3:196014212..196016306-chr3:196062015..196064940,3	MCF-7	breast:
6	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
7	chr3:196013231..196016156-chr3:196060060..196062117,2	MCF-7	breast:
8	chr3:196043597..196046330-chr3:196059490..196061514,2	K562	blood:
9	chr3:196057685..196059203-chr3:196062080..196064140,2	MCF-7	breast:
10	chr3:196044943..196046563-chr3:196056014..196058811,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213123	chromatin interactions
ENSG00000161217	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000235897	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2047550	chr3:196057616-196057617	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551853408	chr3:196057646-196057647	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs182729126	chr3:196057647-196057648	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs527687852	chr3:196057805-196057806	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370492524	chr3:196057826-196057827	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs549358289	chr3:196057861-196057862	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs567584037	chr3:196057866-196057867	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs376427877	chr3:196058008-196058009	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs368578936	chr3:196058034-196058035	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs60594415	chr3:196058082-196058083	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs187015829	chr3:196058102-196058103	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs567903582	chr3:196058144-196058145	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201896965	chr3:196058146-196058147	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs565818976	chr3:196058152-196058153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs539257317	chr3:196058153-196058154	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115761639	chr3:196058155-196058156	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
17	rs113143591	chr3:196058157-196058158	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs543140056	chr3:196058169-196058170	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs555327954	chr3:196058254-196058255	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112550688	chr3:196058258-196058259	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs201100302	chr3:196058320-196058321	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541684111	chr3:196058337-196058338	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147708157	chr3:196058341-196058342	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs559422341	chr3:196058360-196058361	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs201724287	chr3:196058366-196058367	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs57097256	chr3:196058367-196058368	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
27	rs2047549	chr3:196058368-196058369	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs111722724	chr3:196058380-196058381	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
29	rs531007485	chr3:196058430-196058431	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs549222773	chr3:196058451-196058452	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201943736	chr3:196058457-196058458	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567620313	chr3:196058461-196058462	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528477626	chr3:196058497-196058498	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185147163	chr3:196058513-196058514	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs565627000	chr3:196058514-196058515	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs144898131	chr3:196058515-196058516	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs147884206	chr3:196058526-196058527	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs543704469	chr3:196058550-196058551	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs572796287	chr3:196058594-196058595	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs199910585	chr3:196058612-196058613	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569549258	chr3:196058653-196058654	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs536714836	chr3:196058654-196058655	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs555192836	chr3:196058762-196058763	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573534717	chr3:196058773-196058774	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534331918	chr3:196058774-196058775	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs372592104	chr3:196058775-196058776	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12497601	chr3:196058795-196058796	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs555622100	chr3:196058817-196058818	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs551605786	chr3:196058835-196058836	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs386670162	chr3:196058863-196058864	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196047600-196063600	Weak transcription	NHEK	skin
2	chr3:196051400-196063600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:196052000-196062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:196054600-196061800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:196054600-196091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:196054800-196060800	Weak transcription	K562	blood
7	chr3:196054800-196064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:196057200-196057800	Strong transcription	Hela-S3	cervix
9	chr3:196057800-196062600	Weak transcription	Hela-S3	cervix
10	chr3:196059800-196060000	Enhancers	Esophagus	oesophagus
11	chr3:196060200-196062600	Weak transcription	Esophagus	oesophagus
12	chr3:196060800-196061000	Enhancers	K562	blood
13	chr3:196061000-196061200	Genic enhancers	K562	blood
14	chr3:196061200-196062400	Weak transcription	K562	blood
15	chr3:196061800-196063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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