Variant report

Variant	nsv460303
Chromosome Location	chr3:114133-211745
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:8)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73160067..73160822-chr3:118894..119482,2	MCF-7	breast:
2	chr3:163984..165661-chr3:172610..174560,2	K562	blood:
3	chr3:188824..190368-chr3:386265..388997,2	MCF-7	breast:
4	chr3:163984..165661-chr3:172610..174560,2	K562	blood:
5	chr3:131415..134151-chr3:136022..137906,2	MCF-7	breast:
6	chr3:169328..170327-chr3:184848..185564,2	MCF-7	breast:
7	chr3:169328..170327-chr3:184848..185564,2	MCF-7	breast:
8	chr3:131415..134151-chr3:136022..137906,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL5RA-16	chr3:153927-154143	NONHSAT087555
2	lnc-IL5RA-16	chr3:172879-173007	NONHSAT087554
3	lnc-IL5RA-16	chr3:153782-154143	NONHSAT087554
4	lnc-IL5RA-16	chr3:157540-157620	NONHSAT087554
5	lnc-IL5RA-16	chr3:157540-157624	NONHSAT087555
6	lnc-IL5RA-17	chr3:147014-147245	l_2301_chr3:147013-148034_heart
7	lnc-IL5RA-17	chr3:147879-148034	l_2301_chr3:147013-148034_heart

No data

Extended variants
information (count: 3154 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3154 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs954824	chr3:114133-114134	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568849045	chr3:114149-114150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34755573	chr3:114157-114158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183665427	chr3:114166-114167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551065371	chr3:114179-114180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373491142	chr3:114197-114198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs377410471	chr3:114203-114204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140563545	chr3:114204-114205	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534094321	chr3:114221-114222	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555659164	chr3:114243-114244	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs188538172	chr3:114259-114260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538030768	chr3:114298-114299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557464700	chr3:114301-114302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575627389	chr3:114327-114328	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546250942	chr3:114329-114330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143462055	chr3:114362-114363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370281224	chr3:114366-114367	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371880938	chr3:114377-114378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs552130604	chr3:114429-114430	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540530079	chr3:114431-114432	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62227328	chr3:114460-114461	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192472049	chr3:114487-114488	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529483894	chr3:114510-114511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568256929	chr3:114518-114519	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376494782	chr3:114535-114536	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34995919	chr3:114561-114562	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550745012	chr3:114578-114579	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562628633	chr3:114589-114590	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535702974	chr3:114590-114591	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551421566	chr3:114603-114604	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs566353956	chr3:114612-114613	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185032425	chr3:114627-114628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547473547	chr3:114722-114723	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186685768	chr3:114736-114737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369895470	chr3:114737-114738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs191496075	chr3:114757-114758	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs146766997	chr3:114758-114759	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577733804	chr3:114798-114799	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539560996	chr3:114820-114821	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376520187	chr3:114842-114843	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528553040	chr3:114843-114844	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572950840	chr3:114866-114867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs36026912	chr3:114886-114887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12631152	chr3:114895-114896	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562076079	chr3:114913-114914	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573971505	chr3:114919-114920	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs544471692	chr3:114969-114970	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373361175	chr3:115014-115015	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140426080	chr3:115029-115030	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7624034	chr3:115040-115041	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Ependymoma	20639864	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Autism	22495311	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105400-114400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:105600-114200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:111600-114400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:111800-114600	Weak transcription	Brain Substantia Nigra	brain
5	chr3:112800-117200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:112800-117200	Enhancers	Adipose Nuclei	Adipose
7	chr3:113000-118000	Enhancers	Brain Germinal Matrix	brain
8	chr3:113200-114400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:113200-114400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:113200-115200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:113400-114400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:113400-114600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:113400-118000	Enhancers	Fetal Lung	lung
14	chr3:113800-114600	Enhancers	Brain Anterior Caudate	brain
15	chr3:113800-115400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr3:113800-115600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:113800-115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:113800-117200	Enhancers	Ovary	ovary
19	chr3:113800-117600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:113800-118200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:114000-114800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:114000-115400	Enhancers	Colon Smooth Muscle	Colon
23	chr3:114000-115800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:114000-115800	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:114200-114800	Enhancers	Brain Angular Gyrus	brain
26	chr3:114200-115000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:114200-115200	Enhancers	Brain Hippocampus Middle	brain
28	chr3:114400-114600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr3:114400-115400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:114400-115600	Enhancers	Fetal Brain Female	brain
31	chr3:114400-115800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:114400-115800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:114400-115800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:114400-115800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:114400-115800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:114400-117000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:114600-115000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr3:114600-115600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:114600-115600	Enhancers	Fetal Brain Male	brain
40	chr3:114600-115800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr3:114600-115800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:114600-115800	Enhancers	Brain Substantia Nigra	brain
43	chr3:114800-115200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:114800-115200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:115000-115200	Enhancers	Fetal Stomach	stomach
46	chr3:115000-115200	Enhancers	Right Atrium	heart
47	chr3:115000-115400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr3:115000-115800	Enhancers	Brain Anterior Caudate	brain
49	chr3:115000-116400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:115200-115600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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