Variant report

Variant	nsv1004668
Chromosome Location	chr2:78673888-78797459
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:45)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
2	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
3	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
4	chr2:78738806..78741655-chrX:153658032..153660466,2	MCF-7	breast:
5	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
6	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
7	chr2:78607954..78609567-chr2:78764622..78766807,2	K562	blood:
8	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
9	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
10	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
11	chr2:78749283..78751187-chr2:78766195..78769118,2	K562	blood:
12	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
13	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:
14	chr2:78637554..78639977-chr2:78766787..78768860,2	K562	blood:
15	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
16	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
17	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
18	chr2:78519747..78522682-chr2:78785137..78786876,2	K562	blood:
19	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
20	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
21	chr2:78760713..78763886-chr2:78766006..78769531,4	K562	blood:
22	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
23	chr2:78694367..78697060-chr2:78697829..78699693,2	MCF-7	breast:
24	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
25	chr2:78747682..78749204-chr2:78751235..78753165,2	K562	blood:
26	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
27	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:
28	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
29	chr2:78767623..78771004-chr2:78771071..78774505,4	K562	blood:
30	chr2:78764342..78767175-chr2:78767388..78769753,3	K562	blood:
31	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
32	chr2:78757382..78759632-chr2:78763770..78765631,2	K562	blood:
33	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
34	chr2:78754724..78757697-chr2:78759967..78762678,2	K562	blood:
35	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
36	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
37	chr2:78757746..78759593-chr2:78760863..78763022,2	K562	blood:
38	chr2:78758175..78760513-chr2:78766795..78770172,4	K562	blood:
39	chr2:78753644..78755915-chr2:78762930..78764798,2	K562	blood:
40	chr2:78748455..78750783-chr2:78766208..78769872,3	K562	blood:
41	chr2:78753315..78756204-chr2:78756434..78759227,3	K562	blood:
42	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:
43	chr2:78763390..78765848-chr2:78770837..78772654,2	K562	blood:
44	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
45	chr2:78757382..78760241-chr2:78763266..78765631,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78683574-78683857	NONHSAT071835
2	lnc-REG1B-7	chr2:78678545-78678570	NONHSAT071849
3	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071835
4	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071846
5	lnc-LRRTM4-3	chr2:78768698-78769187	NONHSAT071846
6	lnc-REG1B-7	chr2:78679696-78680040	NONHSAT071849
7	lnc-LRRTM4-3	chr2:78768698-78769292	NONHSAT071835
8	lnc-LRRTM4-3	chr2:78714968-78715058	NONHSAT071835

No data

Variant related genes	Relation type
ENSG00000071553	chromatin interactions

Extended variants
information (count: 4223 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4223 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147487617	chr2:78673957-78673958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs533492785	chr2:78673963-78673964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552728887	chr2:78673999-78674000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs546746985	chr2:78674035-78674036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138195014	chr2:78674048-78674049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116467217	chr2:78674052-78674053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549267429	chr2:78674059-78674060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569255892	chr2:78674081-78674082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12466660	chr2:78674098-78674099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114986934	chr2:78674101-78674102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149570630	chr2:78674113-78674114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75282206	chr2:78674117-78674118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553066909	chr2:78674119-78674120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74898124	chr2:78674143-78674144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541895271	chr2:78674167-78674168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373578982	chr2:78674212-78674213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189805244	chr2:78674214-78674215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182709929	chr2:78674284-78674285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185516722	chr2:78674287-78674288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544155131	chr2:78674339-78674340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564326154	chr2:78674351-78674352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532946766	chr2:78674411-78674412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62166136	chr2:78674412-78674413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560166277	chr2:78674413-78674414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529343255	chr2:78674424-78674425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190711104	chr2:78674428-78674429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370613257	chr2:78674437-78674438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538553968	chr2:78674449-78674450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551754563	chr2:78674516-78674517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148808733	chr2:78674559-78674560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558614821	chr2:78674580-78674581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74871763	chr2:78674604-78674605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536364537	chr2:78674605-78674606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200589553	chr2:78674615-78674616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570492094	chr2:78674621-78674622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554406011	chr2:78674666-78674667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183511577	chr2:78674671-78674672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560093293	chr2:78674700-78674701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534569583	chr2:78674786-78674787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370877797	chr2:78674837-78674838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115330451	chr2:78674858-78674859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575101291	chr2:78674902-78674903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544507499	chr2:78674973-78674974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564181933	chr2:78675019-78675020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116632958	chr2:78675036-78675037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368665251	chr2:78675050-78675051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557650805	chr2:78675068-78675069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59540756	chr2:78675141-78675142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67001141	chr2:78675142-78675143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397724243	chr2:78675145-78675146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78673800-78674000	ZNF genes & repeats	HepG2	liver
2	chr2:78674000-78682800	Weak transcription	HepG2	liver
3	chr2:78676200-78676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:78676600-78676800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:78676800-78677200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:78677400-78678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:78680800-78682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:78682400-78683800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:78682800-78683400	Enhancers	HepG2	liver
10	chr2:78683400-78742200	Weak transcription	HepG2	liver
11	chr2:78713400-78713800	Active TSS	Brain Angular Gyrus	brain
12	chr2:78713400-78713800	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:78713400-78713800	Active TSS	Brain Substantia Nigra	brain
14	chr2:78713400-78714000	Active TSS	Brain Anterior Caudate	brain
15	chr2:78713600-78713800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr2:78713600-78714000	Active TSS	Hela-S3	cervix
17	chr2:78713800-78714000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:78716600-78717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:78716600-78718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:78721600-78722800	Enhancers	K562	blood
21	chr2:78742200-78742800	Strong transcription	HepG2	liver
22	chr2:78742800-78749400	Weak transcription	HepG2	liver
23	chr2:78748200-78748600	Active TSS	K562	blood
24	chr2:78748600-78748800	Weak transcription	K562	blood
25	chr2:78748800-78749400	Enhancers	K562	blood
26	chr2:78749400-78750400	Enhancers	HepG2	liver
27	chr2:78750400-78752800	Weak transcription	HepG2	liver
28	chr2:78751800-78752000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:78752600-78753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:78752800-78753200	Enhancers	HepG2	liver
31	chr2:78752800-78753400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:78753200-78753600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:78753200-78758800	Weak transcription	HepG2	liver
34	chr2:78753400-78759600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:78753600-78758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:78756200-78756400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:78756200-78756400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr2:78756600-78757800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:78757800-78758000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:78757800-78758200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:78757800-78758200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:78757800-78759200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr2:78757800-78759200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr2:78758000-78758400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr2:78758000-78758400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:78758200-78759200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:78758200-78759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:78758400-78759200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:78758800-78759600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:78758800-78759800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links