Variant report

Variant	nsv965126
Chromosome Location	chr3:160748670-160750148
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160747461..160750414-chr3:161128370..161130411,2	MCF-7	breast:
2	chr3:160739507..160741947-chr3:160747617..160749551,2	MCF-7	breast:
3	chr3:160717602..160719198-chr3:160748866..160750938,2	MCF-7	breast:
4	chr3:160748438..160750159-chr3:160785119..160786787,2	MCF-7	breast:
5	chr3:160748601..160749476-chr3:160818403..160819285,3	MCF-7	breast:
6	chr3:160749654..160751759-chr3:160753566..160755069,2	MCF-7	breast:
7	chr3:160748979..160751725-chr3:160821249..160823513,2	MCF-7	breast:
8	chr3:160748960..160749535-chr3:160759816..160760384,2	MCF-7	breast:
9	chr3:160748629..160749475-chr3:161057341..161057842,2	MCF-7	breast:
10	chr3:160746924..160750622-chr3:160787755..160791172,3	MCF-7	breast:
11	chr3:160746769..160748964-chr3:160821024..160822898,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169251	chromatin interactions
ENSG00000169255	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144368390	chr3:160748675-160748676	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs571659539	chr3:160748716-160748717	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148781034	chr3:160748730-160748731	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183832068	chr3:160748778-160748779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs564762295	chr3:160748852-160748853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527246132	chr3:160748916-160748917	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142402448	chr3:160748971-160748972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs964533	chr3:160749019-160749020	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs16831789	chr3:160749026-160749027	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549612353	chr3:160749086-160749087	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs60530501	chr3:160749118-160749119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10513563	chr3:160749119-160749120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs57148077	chr3:160749224-160749225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13317467	chr3:160749232-160749233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs13317468	chr3:160749234-160749235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs16831792	chr3:160749262-160749263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534971212	chr3:160749279-160749280	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs386667634	chr3:160749285-160749286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566063759	chr3:160749296-160749297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188494702	chr3:160749319-160749320	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575028455	chr3:160749332-160749333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543928523	chr3:160749352-160749353	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181479140	chr3:160749379-160749380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151281544	chr3:160749393-160749394	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs185034522	chr3:160749453-160749454	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559967665	chr3:160749461-160749462	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527292805	chr3:160749486-160749487	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs139298562	chr3:160749496-160749497	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144257985	chr3:160749552-160749553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs536867191	chr3:160749571-160749572	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529767670	chr3:160749588-160749589	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs16831796	chr3:160749592-160749593	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs569767135	chr3:160749618-160749619	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532310005	chr3:160749629-160749630	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552193765	chr3:160749634-160749635	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565928274	chr3:160749666-160749667	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs146553648	chr3:160749672-160749673	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs141171557	chr3:160749687-160749688	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568440122	chr3:160749722-160749723	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537574509	chr3:160749842-160749843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557389196	chr3:160749889-160749890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs577388222	chr3:160749943-160749944	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190176073	chr3:160749972-160749973	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs16831799	chr3:160749973-160749974	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558179306	chr3:160749975-160749976	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs16831802	chr3:160749981-160749982	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs542096545	chr3:160750000-160750001	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560585318	chr3:160750005-160750006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574530480	chr3:160750112-160750113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181838855	chr3:160750131-160750132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160745200-160748800	Weak transcription	Placenta	Placenta
2	chr3:160745200-160782600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:160746600-160749000	Weak transcription	Psoas Muscle	Psoas
4	chr3:160748200-160749400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:160748800-160749200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:160748800-160749800	Enhancers	Liver	Liver
7	chr3:160748800-160749800	Enhancers	Placenta	Placenta
8	chr3:160749400-160749800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:160749400-160753200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:160749800-160759000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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