Variant report

Variant	nsv965217
Chromosome Location	chr3:141184266-141190303
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:0)
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	chr3:141189849..141195094-chr3:141204829..141208801,7	MCF-7	breast:
2	chr3:141183744..141185593-chr3:141204841..141207517,2	MCF-7	breast:
3	chr3:141185426..141187026-chr3:141189753..141191362,2	K562	blood:
4	chr3:141087119..141089705-chr3:141184052..141185654,2	K562	blood:
5	chr3:141022193..141022928-chr3:141183865..141184712,2	MCF-7	breast:
6	chr3:141079528..141080322-chr3:141183757..141184563,2	MCF-7	breast:
7	chr3:141173783..141176363-chr3:141184238..141186556,4	MCF-7	breast:
8	chr3:141184151..141186428-chr3:141194623..141197205,2	MCF-7	breast:
9	chr3:141186500..141188582-chr3:141205039..141207172,2	MCF-7	breast:
10	chr3:141179908..141182127-chr3:141182376..141185079,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215606	chromatin interactions
ENSG00000177311	chromatin interactions
ENSG00000155903	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191866312	chr3:141184330-141184331	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534982680	chr3:141184367-141184368	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144158468	chr3:141184399-141184400	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73869632	chr3:141184409-141184410	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539286111	chr3:141184425-141184426	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184674918	chr3:141184486-141184487	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs545298645	chr3:141184503-141184504	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs77673478	chr3:141184561-141184562	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536726261	chr3:141184562-141184563	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs555415830	chr3:141184563-141184564	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369072713	chr3:141184582-141184583	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573574062	chr3:141184595-141184596	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540982465	chr3:141184623-141184624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559228421	chr3:141184691-141184692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs577504828	chr3:141184698-141184699	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188710649	chr3:141184770-141184771	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373334748	chr3:141184775-141184776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377359905	chr3:141184791-141184792	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375677532	chr3:141184814-141184815	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200290540	chr3:141184821-141184822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs66830458	chr3:141184835-141184836	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530701367	chr3:141184849-141184850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549224799	chr3:141184850-141184851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561393504	chr3:141184851-141184852	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs192853043	chr3:141184853-141184854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397991236	chr3:141184856-141184857	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373639045	chr3:141184857-141184858	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs373602276	chr3:141184863-141184864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185710001	chr3:141184970-141184971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148709179	chr3:141185002-141185003	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189177286	chr3:141185010-141185011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532839547	chr3:141185020-141185021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551226225	chr3:141185035-141185036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs117513096	chr3:141185056-141185057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536823234	chr3:141185122-141185123	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555180692	chr3:141185135-141185136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567311398	chr3:141185154-141185155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs377416883	chr3:141185161-141185162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572273989	chr3:141185162-141185163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181849727	chr3:141185227-141185228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs552533891	chr3:141185230-141185231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs114189091	chr3:141185255-141185256	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544922608	chr3:141185265-141185266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7624941	chr3:141185334-141185335	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575356531	chr3:141185350-141185351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368083182	chr3:141185414-141185415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183797568	chr3:141185429-141185430	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs7649666	chr3:141185517-141185518	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372728881	chr3:141185519-141185520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs76813974	chr3:141185521-141185522	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	17713554	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
Lung cancer	16740712	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	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141177000-141189600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:141178000-141188200	Weak transcription	NHDF-Ad	bronchial
3	chr3:141181400-141184400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:141183600-141184600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:141183600-141184600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:141183800-141184400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:141183800-141184400	Enhancers	NH-A	brain
8	chr3:141183800-141184600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:141184000-141184400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:141184000-141184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:141184000-141184600	Enhancers	Osteobl	bone
12	chr3:141184200-141184600	Enhancers	NHLF	lung
13	chr3:141184400-141188200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:141184400-141188800	Weak transcription	NH-A	brain
15	chr3:141184400-141189600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:141184600-141188200	Weak transcription	Osteobl	bone
17	chr3:141184600-141189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:141184600-141189800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:141184600-141201000	Weak transcription	NHLF	lung
20	chr3:141185200-141186000	Enhancers	K562	blood
21	chr3:141188200-141189200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:141188200-141190400	Enhancers	Osteobl	bone
23	chr3:141188200-141190800	Enhancers	NHDF-Ad	bronchial
24	chr3:141188800-141190400	Enhancers	NH-A	brain
25	chr3:141189200-141189600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:141189400-141189600	Weak transcription	Spleen	Spleen
27	chr3:141189400-141190800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:141189600-141189800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:141189600-141189800	Enhancers	Spleen	Spleen
30	chr3:141189600-141190600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:141189600-141190600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:141189600-141190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:141189800-141190000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:141189800-141190400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:141189800-141190600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:141189800-141194400	Weak transcription	Spleen	Spleen
37	chr3:141190000-141190200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:141190000-141190600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:141190200-141190600	Enhancers	Primary hematopoietic stem cells	blood
40	chr3:141190200-141190600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:141190200-141190800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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