Variant report

Variant	nsv909368
Chromosome Location	chr18:10142323-10272979
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:29)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:10166486..10168472-chr18:10172266..10174928,2	K562	blood:
2	chr18:10115945..10118277-chr18:10148785..10150525,2	K562	blood:
3	chr18:10151280..10153600-chr18:10168018..10170216,2	K562	blood:
4	chr18:10151280..10153600-chr18:10168018..10170216,2	K562	blood:
5	chr18:10131822..10132570-chr18:10193909..10194420,2	MCF-7	breast:
6	chr18:10110570..10113411-chr18:10159073..10160860,2	K562	blood:
7	chr18:10199291..10202594-chr18:10203291..10207053,3	K562	blood:
8	chr18:10220054..10221952-chr18:10238760..10241747,2	K562	blood:
9	chr18:10128038..10130453-chr18:10139659..10142344,2	MCF-7	breast:
10	chr18:10220054..10221952-chr18:10238760..10241747,2	K562	blood:
11	chr18:10226002..10227636-chr18:10233923..10235998,2	MCF-7	breast:
12	chr18:10181285..10184238-chr18:10186393..10189184,2	K562	blood:
13	chr18:10243485..10245133-chr18:10260587..10262726,2	K562	blood:
14	chr1:166774410..166776713-chr18:10141195..10143804,2	MCF-7	breast:
15	chr18:10266220..10268950-chr18:10270177..10272319,2	K562	blood:
16	chr18:10147959..10149697-chr18:10151568..10154323,2	K562	blood:
17	chr18:10210323..10212586-chr18:10524888..10526476,2	MCF-7	breast:
18	chr18:10269306..10271477-chr18:10275937..10278466,2	K562	blood:
19	chr18:10181285..10184238-chr18:10186393..10189184,2	K562	blood:
20	chr18:10226002..10227636-chr18:10233923..10235998,2	MCF-7	breast:
21	chr18:10249088..10249968-chr18:10519995..10520650,2	MCF-7	breast:
22	chr18:10243485..10245133-chr18:10260587..10262726,2	K562	blood:
23	chr18:10250193..10252916-chr18:10258125..10260409,2	MCF-7	breast:
24	chr18:10199291..10202594-chr18:10203291..10207053,3	K562	blood:
25	chr18:10250193..10252916-chr18:10258125..10260409,2	MCF-7	breast:
26	chr18:10147959..10149697-chr18:10151568..10154323,2	K562	blood:
27	chr18:10114524..10117278-chr18:10140280..10142639,2	MCF-7	breast:
28	chr18:10166486..10168472-chr18:10172266..10174928,2	K562	blood:
29	chr18:10266220..10268950-chr18:10270177..10272319,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VAPA-2	chr18:10144154-10144403	ENSG00000265554.1
2	lnc-PIEZO2-7	chr18:10247401-10247598	XLOC_012760
3	lnc-PIEZO2-13	chr18:10234401-10236163	ucscGeneNc_uc002kol_1
4	lnc-PIEZO2-13	chr18:10237401-10237598	ucscGeneNc_uc002kol_1
5	lnc-PIEZO2-7	chr18:10244401-10246163	XLOC_012760

No data

Variant related genes	Relation type
ENSG00000134265	chromatin interactions

Extended variants
information (count: 5422 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:5422 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9949713	chr18:10142323-10142324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140231368	chr18:10142353-10142354	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531334868	chr18:10142357-10142358	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77211819	chr18:10142385-10142386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561260441	chr18:10142411-10142412	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76190915	chr18:10142423-10142424	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560832084	chr18:10142434-10142435	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34525946	chr18:10142487-10142488	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186647695	chr18:10142496-10142497	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28553881	chr18:10142506-10142507	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs534482557	chr18:10142557-10142558	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190983321	chr18:10142598-10142599	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536576301	chr18:10142624-10142625	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs555219749	chr18:10142639-10142640	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs576404730	chr18:10142648-10142649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs543401281	chr18:10142665-10142666	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs182881105	chr18:10142669-10142670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs185904883	chr18:10142704-10142705	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs544825198	chr18:10142705-10142706	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs144003920	chr18:10142707-10142708	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs527460326	chr18:10142708-10142709	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs542603624	chr18:10142747-10142748	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs146512600	chr18:10142770-10142771	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs191206600	chr18:10142776-10142777	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs549753540	chr18:10142831-10142832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs77737510	chr18:10142837-10142838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs532213837	chr18:10142851-10142852	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs547497890	chr18:10142854-10142855	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs566168003	chr18:10142882-10142883	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs536847548	chr18:10142894-10142895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs183306460	chr18:10142911-10142912	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs544788222	chr18:10142925-10142926	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs372286761	chr18:10142932-10142933	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs570286931	chr18:10142944-10142945	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs116838468	chr18:10142971-10142972	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs115116490	chr18:10142972-10142973	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs17437990	chr18:10142983-10142984	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534819810	chr18:10143028-10143029	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112153525	chr18:10143112-10143113	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs553429440	chr18:10143116-10143117	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556381	chr18:10143117-10143118	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs542768624	chr18:10143119-10143120	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561030611	chr18:10143133-10143134	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs140891105	chr18:10143142-10143143	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187640490	chr18:10143145-10143146	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543460999	chr18:10143183-10143184	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564911331	chr18:10143191-10143192	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs16973833	chr18:10143223-10143224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192228522	chr18:10143312-10143313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs606280	chr18:10143350-10143351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Autism	19246517	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:10137400-10144400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr18:10137800-10144400	Enhancers	NHDF-Ad	bronchial
3	chr18:10138200-10142800	Enhancers	Fetal Stomach	stomach
4	chr18:10138200-10144200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:10139400-10142800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:10139400-10143000	Enhancers	NH-A	brain
7	chr18:10139400-10143000	Enhancers	Osteobl	bone
8	chr18:10139600-10142600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:10139600-10142800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:10139800-10142400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:10139800-10142800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:10139800-10142800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr18:10139800-10142800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr18:10139800-10142800	Enhancers	HSMM	muscle
15	chr18:10139800-10143000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:10139800-10143000	Enhancers	Stomach Mucosa	stomach
17	chr18:10139800-10143000	Enhancers	HSMMtube	muscle
18	chr18:10139800-10143200	Enhancers	Placenta	Placenta
19	chr18:10139800-10144400	Enhancers	Adipose Nuclei	Adipose
20	chr18:10139800-10144400	Enhancers	Fetal Lung	lung
21	chr18:10139800-10144600	Enhancers	Fetal Muscle Leg	muscle
22	chr18:10140200-10142400	Weak transcription	Fetal Heart	heart
23	chr18:10140200-10144400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr18:10140200-10150600	Weak transcription	Spleen	Spleen
25	chr18:10140600-10142600	Weak transcription	Left Ventricle	heart
26	chr18:10140600-10142600	Weak transcription	Ovary	ovary
27	chr18:10140600-10142600	Weak transcription	Psoas Muscle	Psoas
28	chr18:10140600-10143800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:10140600-10150600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:10141200-10144000	Weak transcription	Brain Substantia Nigra	brain
31	chr18:10141400-10142600	Weak transcription	Thymus	Thymus
32	chr18:10141400-10143000	Enhancers	Aorta	Aorta
33	chr18:10141400-10143800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:10141400-10145400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:10141600-10142400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr18:10141600-10142600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr18:10141600-10142800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:10141600-10142800	Enhancers	HUVEC	blood vessel
39	chr18:10141600-10144000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr18:10141600-10145600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr18:10141600-10150200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:10141800-10142400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr18:10141800-10142800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:10141800-10142800	Weak transcription	Right Atrium	heart
45	chr18:10141800-10144600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:10141800-10145400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:10141800-10145400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:10141800-10150800	Weak transcription	Right Ventricle	heart
49	chr18:10142000-10142400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:10142000-10142400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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