Variant report

Variant	nsv4084
Chromosome Location	chr3:159492488-159513251
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:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:159504199..159507462-chr3:159515627..159518397,3	MCF-7	breast:
2	chr3:159481784..159484583-chr3:159491233..159495537,4	MCF-7	breast:
3	chr3:159506660..159510516-chr3:159511737..159514255,3	MCF-7	breast:
4	chr3:159504230..159507022-chr3:159529536..159532354,2	MCF-7	breast:
5	chr3:159499259..159500349-chr3:159522676..159523605,6	MCF-7	breast:
6	chr3:159505829..159507763-chr3:159508214..159510388,2	K562	blood:
7	chr3:159481520..159484319-chr3:159499469..159501812,2	MCF-7	breast:
8	chr3:159481683..159485733-chr3:159491404..159494052,3	MCF-7	breast:
9	chr3:159504063..159506884-chr3:159510912..159512830,2	K562	blood:
10	chr3:159492066..159493625-chr3:159498204..159501036,2	MCF-7	breast:
11	chr3:159504853..159507555-chr3:159550828..159552388,2	MCF-7	breast:
12	chr3:159505829..159507763-chr3:159508214..159510388,2	K562	blood:
13	chr3:159499592..159500128-chr3:159522767..159523524,2	MCF-7	breast:
14	chr3:159480418..159485166-chr3:159503972..159508876,8	MCF-7	breast:
15	chr3:159487312..159489793-chr3:159503414..159505696,2	MCF-7	breast:
16	chr3:159506660..159510516-chr3:159511737..159514255,3	MCF-7	breast:
17	chr3:159490266..159491970-chr3:159504872..159507711,2	MCF-7	breast:
18	chr3:159492066..159493625-chr3:159498204..159501036,2	MCF-7	breast:
19	chr3:159504063..159506884-chr3:159510912..159512830,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-432B6.3.1-5	chr3:159509172-159509448	uc_133_-
2	lnc-RP11-432B6.3.1-6	chr3:159508853-159509060	uc_132_-
3	lnc-SCHIP1-1	chr3:159509172-159509448	uc_133_+
4	lnc-SCHIP1-2	chr3:159508853-159509060	uc_132_+

No data

Variant related genes	Relation type
ENSG00000250588	chromatin interactions

Extended variants
information (count: 749 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183373752	chr3:159492503-159492504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542511132	chr3:159492597-159492598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554857264	chr3:159492664-159492665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550160631	chr3:159492678-159492679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386667558	chr3:159492707-159492708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs59494695	chr3:159492708-159492709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs59046492	chr3:159492709-159492710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149059720	chr3:159492932-159492933	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7639937	chr3:159492952-159492953	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200869399	chr3:159492956-159492957	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536071274	chr3:159492974-159492975	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554241442	chr3:159492975-159492976	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143063662	chr3:159493033-159493034	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540455970	chr3:159493065-159493066	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543008620	chr3:159493097-159493098	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73015951	chr3:159493121-159493122	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559866239	chr3:159493133-159493134	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116064945	chr3:159493161-159493162	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12107732	chr3:159493191-159493192	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34586932	chr3:159493195-159493196	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549643668	chr3:159493196-159493197	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561328275	chr3:159493225-159493226	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs36021443	chr3:159493271-159493272	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374948413	chr3:159493312-159493313	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531837534	chr3:159493322-159493323	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549881178	chr3:159493481-159493482	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545379116	chr3:159493485-159493486	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538691276	chr3:159493503-159493504	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547647948	chr3:159493516-159493517	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569427132	chr3:159493564-159493565	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565684850	chr3:159493608-159493609	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs190098936	chr3:159493662-159493663	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563582255	chr3:159493671-159493672	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs80117263	chr3:159493672-159493673	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182338694	chr3:159493738-159493739	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537170987	chr3:159493756-159493757	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148197303	chr3:159493791-159493792	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61104561	chr3:159493835-159493836	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549368040	chr3:159493846-159493847	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540695951	chr3:159493854-159493855	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369216786	chr3:159493896-159493897	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186689615	chr3:159493933-159493934	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6441272	chr3:159493954-159493955	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528632396	chr3:159494015-159494016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202169468	chr3:159494029-159494030	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543198121	chr3:159494107-159494108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201326495	chr3:159494122-159494123	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78247780	chr3:159494133-159494134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10553243	chr3:159494134-159494135	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs57139638	chr3:159494135-159494136	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159483600-159493000	Weak transcription	Gastric	stomach
2	chr3:159483800-159493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:159484000-159494600	Weak transcription	Psoas Muscle	Psoas
4	chr3:159484200-159493200	Weak transcription	Lung	lung
5	chr3:159484200-159501200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:159484400-159493000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:159484400-159493000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:159484400-159493000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:159484400-159493200	Weak transcription	Fetal Stomach	stomach
10	chr3:159484400-159505400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:159484600-159500400	Weak transcription	Fetal Intestine Small	intestine
12	chr3:159484800-159493000	Weak transcription	HSMMtube	muscle
13	chr3:159485000-159492600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:159485000-159492800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:159485000-159493000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:159485600-159493000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:159485600-159493000	Weak transcription	HMEC	breast
18	chr3:159485600-159493400	Weak transcription	Fetal Brain Female	brain
19	chr3:159485800-159493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:159486600-159493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:159486800-159493000	Weak transcription	Right Ventricle	heart
22	chr3:159486800-159493000	Weak transcription	NH-A	brain
23	chr3:159486800-159493000	Weak transcription	NHEK	skin
24	chr3:159486800-159494000	Weak transcription	Fetal Heart	heart
25	chr3:159487600-159493000	Weak transcription	Right Atrium	heart
26	chr3:159488400-159494600	Weak transcription	Spleen	Spleen
27	chr3:159488600-159492600	Weak transcription	Brain Anterior Caudate	brain
28	chr3:159488600-159492800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:159488600-159493200	Weak transcription	Pancreas	Pancrea
30	chr3:159488600-159493200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr3:159488800-159492600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:159488800-159492800	Weak transcription	Stomach Mucosa	stomach
33	chr3:159488800-159493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:159489000-159492800	Weak transcription	NHDF-Ad	bronchial
35	chr3:159489200-159492600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:159489400-159492600	Weak transcription	Osteobl	bone
37	chr3:159489400-159493000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:159490200-159492600	Weak transcription	A549	lung
39	chr3:159490200-159493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:159490200-159493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:159490200-159493000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:159490200-159493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:159490200-159493000	Weak transcription	Left Ventricle	heart
44	chr3:159490200-159501400	Weak transcription	Aorta	Aorta
45	chr3:159490600-159492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:159491000-159493200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:159491000-159495200	Enhancers	Brain Cingulate Gyrus	brain
48	chr3:159491000-159495200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:159491000-159495200	Enhancers	Rectal Smooth Muscle	rectum
50	chr3:159491000-159495200	Enhancers	HUVEC	blood vessel

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