Variant report

Variant	esv3339583
Chromosome Location	chr3:194828063-194833661
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:2)
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	chr3:194406361..194407929-chr3:194832634..194834701,2	MCF-7	breast:
2	chr3:194832331..194837660-chr3:194839081..194841995,5	MCF-7	breast:
3	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:
4	chr3:194832621..194836961-chr3:194837216..194841177,6	K562	blood:
5	chr3:194721395..194723219-chr3:194825772..194828111,2	MCF-7	breast:
6	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:
7	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:
8	chr3:194822394..194825195-chr3:194825824..194828590,3	K562	blood:
9	chr3:194405402..194408792-chr3:194825129..194828912,5	MCF-7	breast:
10	chr3:194827345..194830265-chr3:194841540..194843124,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACAP2-3	chr3:194830691-194830791	NONHSAT094141
2	lnc-ACAP2-3	chr3:194831292-194831678	NONHSAT094141

No data

Variant related genes	Relation type
ENSG00000173950	chromatin interactions
ENSG00000185112	chromatin interactions

Extended variants
information (count: 415 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557906267	chr3:194828072-194828073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569646241	chr3:194828109-194828110	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537075973	chr3:194828122-194828123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs28625881	chr3:194828171-194828172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
5	rs28406394	chr3:194828191-194828192	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375432626	chr3:194828203-194828204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187766513	chr3:194828245-194828246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs202069583	chr3:194828255-194828256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369579138	chr3:194828256-194828257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs373131311	chr3:194828258-194828259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs200445183	chr3:194828267-194828268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192719532	chr3:194828278-194828279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184723692	chr3:194828289-194828290	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187950196	chr3:194828303-194828304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192277331	chr3:194828328-194828329	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184253630	chr3:194828346-194828347	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201478245	chr3:194828375-194828376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs541320729	chr3:194828392-194828393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs11927564	chr3:194828397-194828398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs200543204	chr3:194828405-194828406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146542021	chr3:194828407-194828408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184431427	chr3:194828410-194828411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4989375	chr3:194828411-194828412	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111295667	chr3:194828457-194828458	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs528537897	chr3:194828463-194828464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542703972	chr3:194828470-194828471	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561340423	chr3:194828472-194828473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141305440	chr3:194828480-194828481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs903302	chr3:194828486-194828487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565306244	chr3:194828487-194828488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532779188	chr3:194828489-194828490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs4079352	chr3:194828535-194828536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4079351	chr3:194828539-194828540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs903301	chr3:194828560-194828561	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181309512	chr3:194828599-194828600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs149705614	chr3:194828609-194828610	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567262237	chr3:194828647-194828648	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544883135	chr3:194828653-194828654	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs138567286	chr3:194828654-194828655	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371282796	chr3:194828729-194828730	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs73890676	chr3:194828769-194828770	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577400740	chr3:194828805-194828806	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs538487570	chr3:194828837-194828838	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186756491	chr3:194828961-194828962	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145038206	chr3:194828998-194828999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543118507	chr3:194829154-194829155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190164448	chr3:194829170-194829171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539058842	chr3:194829179-194829180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575083748	chr3:194829206-194829207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544324777	chr3:194829222-194829223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Autosomal-dominant optic trophy	21036400	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:194817200-194831200	Weak transcription	Gastric	stomach
4	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:194823600-194831200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:194823800-194833200	Weak transcription	HSMM	muscle
8	chr3:194824000-194831000	Weak transcription	HSMMtube	muscle
9	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:194825400-194830000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:194825400-194830200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:194825400-194830400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:194825800-194830000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:194826600-194835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
17	chr3:194827200-194830200	Weak transcription	NHLF	lung
18	chr3:194827200-194831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:194827200-194831200	Weak transcription	Lung	lung
20	chr3:194827200-194831800	Weak transcription	GM12878-XiMat	blood
21	chr3:194827200-194838800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:194827200-194838800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:194827400-194829000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:194827400-194829400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:194827400-194830400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:194827400-194831200	Weak transcription	Esophagus	oesophagus
27	chr3:194827400-194833400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:194827400-194838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:194827400-194853600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:194827400-194861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:194827600-194828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:194827600-194828600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:194827600-194829200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr3:194827600-194830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:194827600-194830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:194827600-194830000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:194827600-194830000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:194827600-194830000	Weak transcription	Fetal Brain Male	brain
39	chr3:194827600-194830000	Weak transcription	K562	blood
40	chr3:194827600-194830200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:194827600-194830200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:194827600-194830200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:194827600-194830200	Weak transcription	Dnd41	blood
44	chr3:194827600-194830800	Weak transcription	Right Ventricle	heart
45	chr3:194827600-194830800	Weak transcription	NHEK	skin
46	chr3:194827600-194831000	Weak transcription	Thymus	Thymus
47	chr3:194827600-194831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:194827600-194831200	Weak transcription	Pancreas	Pancrea
49	chr3:194827600-194831200	Weak transcription	Right Atrium	heart
50	chr3:194827600-194831200	Weak transcription	Stomach Smooth Muscle	stomach

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