Variant report

Variant	nsv963494
Chromosome Location	chr3:194826599-194833987
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:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194403076..194403838-chr3:194826818..194828013,5	MCF-7	breast:
2	chr3:194827712..194831083-chr3:194838703..194842904,3	K562	blood:
3	chr3:194755717..194756712-chr3:194826887..194827939,8	MCF-7	breast:
4	chr3:194822394..194825195-chr3:194825824..194828590,3	K562	blood:
5	chr3:194722742..194723422-chr3:194826877..194827390,2	MCF-7	breast:
6	chr3:194405402..194408792-chr3:194825129..194828912,5	MCF-7	breast:
7	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:
8	chr3:194827345..194830265-chr3:194841540..194843124,2	K562	blood:
9	chr3:194832621..194836961-chr3:194837216..194841177,6	K562	blood:
10	chr3:194750351..194753020-chr3:194825090..194827323,3	MCF-7	breast:
11	chr3:194722310..194723268-chr3:194826858..194827831,7	MCF-7	breast:
12	chr3:194828404..194831478-chr3:194832596..194835567,3	K562	blood:
13	chr3:194590210..194593182-chr3:194824418..194827220,2	MCF-7	breast:
14	chr3:194403071..194403964-chr3:194826998..194827844,5	MCF-7	breast:
15	chr3:194649753..194650272-chr3:194826865..194827380,2	K562	blood:
16	chr3:194750132..194752795-chr3:194825393..194827376,2	MCF-7	breast:
17	chr3:194755811..194756606-chr3:194827245..194827766,2	MCF-7	breast:
18	chr3:194392238..194392827-chr3:194826810..194827674,3	MCF-7	breast:
19	chr3:194825282..194827537-chr3:194865128..194866939,2	K562	blood:
20	chr3:194826945..194827704-chr3:194947760..194948487,2	MCF-7	breast:
21	chr3:194832331..194837660-chr3:194839081..194841995,5	MCF-7	breast:
22	chr3:194818492..194820858-chr3:194824605..194827345,2	K562	blood:
23	chr3:194721395..194723219-chr3:194825772..194828111,2	MCF-7	breast:
24	chr3:194406361..194407929-chr3:194832634..194834701,2	MCF-7	breast:
25	chr3:194725498..194726699-chr3:194826761..194827799,4	MCF-7	breast:

(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
ENSG00000185112	chromatin interactions
ENSG00000173950	chromatin interactions

Extended variants
information (count: 498 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542868912	chr3:194826637-194826638	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371588029	chr3:194826662-194826663	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571969043	chr3:194826670-194826671	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200237150	chr3:194826679-194826680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs200727139	chr3:194826682-194826683	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79955725	chr3:194826711-194826712	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535447599	chr3:194826727-194826728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6785310	chr3:194826729-194826730	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs531527707	chr3:194826772-194826773	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550050910	chr3:194826775-194826776	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561869728	chr3:194826817-194826818	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs78282290	chr3:194826819-194826820	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141297490	chr3:194826820-194826821	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9859891	chr3:194826872-194826873	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9872141	chr3:194826917-194826918	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558354490	chr3:194826933-194826934	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573312795	chr3:194826938-194826939	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs551641413	chr3:194826948-194826949	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570053185	chr3:194826949-194826950	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75884405	chr3:194826956-194826957	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9860190	chr3:194827008-194827009	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9757797	chr3:194827020-194827021	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535505191	chr3:194827024-194827025	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs9872309	chr3:194827036-194827037	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs137985911	chr3:194827048-194827049	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142682093	chr3:194827050-194827051	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113406895	chr3:194827064-194827065	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558345903	chr3:194827091-194827092	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376608615	chr3:194827095-194827096	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564371952	chr3:194827106-194827107	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138386312	chr3:194827119-194827120	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs114962369	chr3:194827133-194827134	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369272153	chr3:194827185-194827186	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149255629	chr3:194827198-194827199	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188009060	chr3:194827206-194827207	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547845550	chr3:194827222-194827223	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs559624937	chr3:194827256-194827257	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563270202	chr3:194827324-194827325	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4677656	chr3:194827330-194827331	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551407998	chr3:194827361-194827362	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs55798111	chr3:194827394-194827395	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6650885	chr3:194827419-194827420	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549287786	chr3:194827472-194827473	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567828020	chr3:194827481-194827482	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534940977	chr3:194827486-194827487	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs553823507	chr3:194827562-194827563	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs565686187	chr3:194827607-194827608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs5855613	chr3:194827629-194827630	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs398082790	chr3:194827633-194827634	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs397992013	chr3:194827634-194827635	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 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:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194802000-194826800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:194808600-194827000	Weak transcription	Fetal Brain Female	brain
3	chr3:194814600-194827800	Enhancers	Fetal Heart	heart
4	chr3:194815200-194826800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:194815400-194827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:194815800-194827000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
8	chr3:194816000-194826800	Weak transcription	Fetal Stomach	stomach
9	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:194816400-194827000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:194816600-194826800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:194817200-194831200	Weak transcription	Gastric	stomach
13	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:194819000-194826800	Weak transcription	Dnd41	blood
15	chr3:194820800-194827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:194821200-194827800	Enhancers	HUVEC	blood vessel
17	chr3:194822000-194827000	Weak transcription	Pancreas	Pancrea
18	chr3:194822000-194827000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:194822200-194827000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:194822400-194827000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:194822600-194827000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr3:194822600-194827000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:194823200-194827800	Enhancers	Fetal Intestine Large	intestine
25	chr3:194823400-194827000	Enhancers	Placenta	Placenta
26	chr3:194823600-194826600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:194823600-194826800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:194823600-194827000	Weak transcription	GM12878-XiMat	blood
29	chr3:194823600-194831200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:194823800-194826800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:194823800-194826800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr3:194823800-194833200	Weak transcription	HSMM	muscle
33	chr3:194824000-194826800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:194824000-194826800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:194824000-194827000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:194824000-194827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:194824000-194827000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:194824000-194827000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:194824000-194827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:194824000-194827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:194824000-194827000	Weak transcription	Ovary	ovary
42	chr3:194824000-194827400	Weak transcription	NHEK	skin
43	chr3:194824000-194831000	Weak transcription	HSMMtube	muscle
44	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:194824200-194826800	Enhancers	Hela-S3	cervix
46	chr3:194824200-194827000	Weak transcription	Colonic Mucosa	Colon
47	chr3:194824200-194827000	Weak transcription	Esophagus	oesophagus
48	chr3:194824200-194827000	Weak transcription	Left Ventricle	heart
49	chr3:194824200-194827000	Weak transcription	Psoas Muscle	Psoas
50	chr3:194824200-194827000	Weak transcription	Right Atrium	heart

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