Variant report

Variant	nsv511204
Chromosome Location	chr3:143215072-143222874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143187283..143189159-chr3:143216488..143218723,2	K562	blood:
2	chr3:143212932..143214521-chr3:143217945..143220851,2	MCF-7	breast:
3	chr3:143205251..143209634-chr3:143211909..143216344,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR9-6	chr3:143222117-143223115	NONHSAT092527

Extended variants
information (count: 256 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs838599	chr3:143215072-143215073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143072431	chr3:143215118-143215119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35300384	chr3:143215120-143215121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376196135	chr3:143215138-143215139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376951376	chr3:143215188-143215189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558307034	chr3:143215197-143215198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146173206	chr3:143215209-143215210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576592975	chr3:143215217-143215218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75017622	chr3:143215292-143215293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573648424	chr3:143215327-143215328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555809007	chr3:143215351-143215352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573633563	chr3:143215365-143215366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184244987	chr3:143215393-143215394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559434122	chr3:143215460-143215461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34984919	chr3:143215470-143215471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs838600	chr3:143215472-143215473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544805796	chr3:143215534-143215535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552874232	chr3:143215591-143215592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563484432	chr3:143215600-143215601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530637780	chr3:143215603-143215604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79781730	chr3:143215621-143215622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190006057	chr3:143215663-143215664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370058365	chr3:143215673-143215674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79626130	chr3:143215694-143215695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112256450	chr3:143215789-143215790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs861418	chr3:143215794-143215795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs563526276	chr3:143215809-143215810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370780742	chr3:143215811-143215812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551599694	chr3:143215820-143215821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570205194	chr3:143215829-143215830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191770042	chr3:143215831-143215832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556055529	chr3:143215847-143215848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540420944	chr3:143215882-143215883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574380765	chr3:143215933-143215934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73008894	chr3:143215968-143215969	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183979654	chr3:143216000-143216001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137931824	chr3:143216023-143216024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189105962	chr3:143216155-143216156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563238863	chr3:143216186-143216187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553337587	chr3:143216213-143216214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73008895	chr3:143216217-143216218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12633957	chr3:143216235-143216236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560795184	chr3:143216247-143216248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528348664	chr3:143216446-143216447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149479021	chr3:143216565-143216566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559287806	chr3:143216582-143216583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533194741	chr3:143216624-143216625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143969213	chr3:143216734-143216735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs838601	chr3:143216783-143216784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181515560	chr3:143216812-143216813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
2	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
4	chr3:143186000-143215600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:143186000-143223000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:143192400-143215200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:143201800-143226400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:143209000-143226800	Weak transcription	Adipose Nuclei	Adipose
10	chr3:143212600-143224800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:143212600-143247400	Weak transcription	Primary T cells from cord blood	blood
12	chr3:143214000-143216200	Enhancers	Colon Smooth Muscle	Colon
13	chr3:143214400-143215800	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:143214600-143215200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr3:143215000-143215200	Weak transcription	Fetal Stomach	stomach
16	chr3:143215200-143215600	Enhancers	Fetal Stomach	stomach
17	chr3:143215600-143226800	Weak transcription	Fetal Stomach	stomach
18	chr3:143219800-143222200	Weak transcription	Esophagus	oesophagus
19	chr3:143220200-143220800	Enhancers	Brain Angular Gyrus	brain
20	chr3:143220200-143220800	Enhancers	Brain Germinal Matrix	brain
21	chr3:143220200-143221200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:143220200-143221200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:143220200-143221200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:143220200-143221200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:143220400-143220800	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:143220400-143220800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:143220400-143221000	Enhancers	Brain Substantia Nigra	brain
28	chr3:143220400-143221200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:143220400-143221200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:143220400-143221200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:143220400-143221200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:143220400-143221200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:143220400-143221200	Enhancers	Brain Hippocampus Middle	brain
34	chr3:143220400-143221400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:143220400-143221800	Enhancers	Fetal Lung	lung
36	chr3:143220400-143226400	Weak transcription	HSMMtube	muscle
37	chr3:143220600-143220800	Enhancers	Brain Anterior Caudate	brain
38	chr3:143220600-143221200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:143220600-143221200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:143220800-143221200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:143220800-143221200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr3:143220800-143226600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr3:143221000-143222400	Weak transcription	Spleen	Spleen
44	chr3:143221000-143227200	Weak transcription	Brain Substantia Nigra	brain
45	chr3:143221200-143224000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr3:143221200-143226800	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:143221200-143228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:143221400-143223800	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:143221400-143224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:143221800-143222200	Weak transcription	Fetal Lung	lung

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