Variant report

Variant	nsv1011088
Chromosome Location	chr3:143135891-143163169
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:143127774..143129299-chr3:143137124..143139731,2	MCF-7	breast:
2	chr3:143155818..143158347-chr3:143158521..143164816,7	K562	blood:
3	chr3:143142091..143144057-chr3:143161470..143163201,2	K562	blood:
4	chr3:143158359..143160882-chr3:143160901..143163490,3	MCF-7	breast:
5	chr12:53399929..53400470-chr3:143162782..143163653,2	Hela-S3	cervix:
6	chr3:143137679..143139252-chr3:143142655..143144668,2	K562	blood:
7	chr3:142720297..142722874-chr3:143161898..143164583,2	K562	blood:
8	chr3:143152268..143153220-chr3:143363059..143363930,4	MCF-7	breast:
9	chr3:143158359..143160882-chr3:143160901..143163490,3	MCF-7	breast:
10	chr3:143152690..143153230-chr3:143363138..143363760,2	MCF-7	breast:
11	chr16:65373890..65374390-chr3:143136393..143136917,2	Hela-S3	cervix:
12	chr3:143155818..143158347-chr3:143158521..143164816,7	K562	blood:
13	chr3:143156049..143157563-chr3:143158521..143160996,2	K562	blood:
14	chr3:142787448..142789690-chr3:143147155..143148853,2	K562	blood:
15	chr3:143137679..143139252-chr3:143142655..143144668,2	K562	blood:
16	chr3:143142091..143144057-chr3:143161470..143163201,2	K562	blood:
17	chr3:143156049..143157563-chr3:143158521..143160996,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAQR9-5	chr3:143138239-143140079	ucscGeneNc_uc003euj_1

No data

Variant related genes	Relation type
ENSG00000163714	chromatin interactions
ENSG00000063046	chromatin interactions
ENSG00000268129	chromatin interactions

Extended variants
information (count: 1081 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187855092	chr3:143135904-143135905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537725432	chr3:143135927-143135928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555804894	chr3:143135929-143135930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567217039	chr3:143135935-143135936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73144772	chr3:143135940-143135941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs193235697	chr3:143135970-143135971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552603321	chr3:143135989-143135990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114389327	chr3:143136002-143136003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567961883	chr3:143136014-143136015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370020585	chr3:143136016-143136017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531259702	chr3:143136030-143136031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184547189	chr3:143136033-143136034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528912045	chr3:143136034-143136035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189481050	chr3:143136120-143136121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575372515	chr3:143136134-143136135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114863171	chr3:143136185-143136186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561038546	chr3:143136241-143136242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573933937	chr3:143136308-143136309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180724079	chr3:143136327-143136328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375461971	chr3:143136328-143136329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533448022	chr3:143136343-143136344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551931483	chr3:143136351-143136352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78876850	chr3:143136352-143136353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375617083	chr3:143136373-143136374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73144773	chr3:143136374-143136375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549611745	chr3:143136387-143136388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184242051	chr3:143136388-143136389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535030319	chr3:143136391-143136392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546178631	chr3:143136402-143136403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148720976	chr3:143136412-143136413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570939409	chr3:143136422-143136423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs538320470	chr3:143136460-143136461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116326477	chr3:143136473-143136474	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373311980	chr3:143136477-143136478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142250862	chr3:143136491-143136492	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113860450	chr3:143136532-143136533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536063465	chr3:143136538-143136539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554797951	chr3:143136579-143136580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs73144774	chr3:143136625-143136626	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188570471	chr3:143136639-143136640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115362321	chr3:143136640-143136641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145926718	chr3:143136651-143136652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7374585	chr3:143136669-143136670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181693128	chr3:143136673-143136674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186032968	chr3:143136688-143136689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192100056	chr3:143136766-143136767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561568146	chr3:143136774-143136775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528743859	chr3:143136780-143136781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139820532	chr3:143136782-143136783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4839634	chr3:143136819-143136820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:54)

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

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143100600-143142600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143129400-143140600	Weak transcription	NHDF-Ad	bronchial
3	chr3:143133200-143142800	Weak transcription	Primary B cells from cord blood	blood
4	chr3:143134400-143136000	Enhancers	Dnd41	blood
5	chr3:143136000-143137200	Weak transcription	Dnd41	blood
6	chr3:143136400-143136600	ZNF genes & repeats	Aorta	Aorta
7	chr3:143136600-143138600	Weak transcription	Aorta	Aorta
8	chr3:143137200-143137600	Enhancers	Dnd41	blood
9	chr3:143137200-143137800	Enhancers	Brain Hippocampus Middle	brain
10	chr3:143137200-143138600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:143137200-143138800	Enhancers	Brain Substantia Nigra	brain
12	chr3:143137200-143139000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr3:143137200-143139200	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:143137400-143137800	Enhancers	Brain Angular Gyrus	brain
15	chr3:143137400-143138200	Enhancers	Brain Anterior Caudate	brain
16	chr3:143137600-143138000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:143137600-143142000	Weak transcription	Dnd41	blood
18	chr3:143137800-143138200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:143137800-143138800	Weak transcription	Brain Angular Gyrus	brain
20	chr3:143138000-143138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:143138200-143138800	Enhancers	Brain Hippocampus Middle	brain
22	chr3:143138400-143138600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:143138400-143138800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:143138400-143139000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:143138600-143138800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:143138600-143139000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:143138600-143139000	Enhancers	Aorta	Aorta
28	chr3:143138800-143139000	Enhancers	Brain Angular Gyrus	brain
29	chr3:143138800-143139000	Enhancers	HSMMtube	muscle
30	chr3:143138800-143139000	Enhancers	Osteobl	bone
31	chr3:143138800-143139600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:143139000-143140600	Weak transcription	HSMMtube	muscle
33	chr3:143139000-143145600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:143139200-143140200	Weak transcription	Osteobl	bone
35	chr3:143139600-143140600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:143139800-143140000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:143140000-143140200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:143140000-143150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:143140200-143140400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr3:143140200-143140800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:143140200-143140800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:143140200-143140800	Enhancers	HUVEC	blood vessel
43	chr3:143140200-143140800	Enhancers	Osteobl	bone
44	chr3:143140400-143140600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:143140400-143140800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr3:143140600-143140800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr3:143140600-143141000	Enhancers	NHDF-Ad	bronchial
48	chr3:143140800-143141000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:143140800-143142000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:143140800-143142600	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links