Variant report

Variant	nsv583247
Chromosome Location	chr2:144682018-144697113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:489)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:144694319-144694938	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:144694421-144694903	GM12878	blood:	n/a	n/a
3	CCNT2	chr2:144694551-144694978	K562	blood:	n/a	n/a
4	CEBPB	chr2:144687247-144687560	HepG2	liver:	n/a	chr2:144687388-144687399
5	CEBPB	chr2:144689657-144689777	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:144684363-144684690	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:144693909-144694106	A549	lung:	n/a	chr2:144694036-144694049 chr2:144694036-144694049 chr2:144694036-144694049
8	CEBPB	chr2:144688558-144688597	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:144693917-144694117	H1-hESC	embryonic stem cell:	n/a	chr2:144694036-144694049 chr2:144694036-144694049 chr2:144694036-144694049
10	CEBPB	chr2:144687213-144687497	IMR90	lung:	n/a	chr2:144687388-144687399
11	CHD1	chr2:144694853-144695595	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr2:144695013-144695210	GM12878	blood:	n/a	n/a
13	CHD2	chr2:144694795-144694925	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr2:144694650-144695315	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr2:144694692-144695174	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr2:144694298-144695489	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:144687499-144687640	GM19240	blood:	n/a	n/a
18	CTCF	chr2:144687480-144687630	GM12878	blood:	n/a	n/a
19	CTCF	chr2:144687360-144687510	GM12873	blood:	n/a	n/a
20	CTCF	chr2:144687460-144687610	GM12865	blood:	n/a	n/a
21	CTCF	chr2:144687520-144687670	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr2:144687495-144687650	K562	blood:	n/a	n/a
23	CTCF	chr2:144687553-144687580	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:144687460-144687610	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr2:144694820-144694970	AG04449	skin:	n/a	n/a
26	CTCF	chr2:144687544-144687616	NHEK	skin:	n/a	n/a
27	CTCF	chr2:144687421-144687733	GM12878	blood:	n/a	n/a
28	CTCF	chr2:144694885-144694973	GM19240	blood:	n/a	n/a
29	CTCF	chr2:144687557-144687580	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:144687520-144687670	HMEC	breast:	n/a	n/a
31	CTCF	chr2:144694720-144694870	GM12873	blood:	n/a	n/a
32	CTCF	chr2:144694722-144694788	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:144687480-144687630	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr2:144687500-144687650	GM12872	blood:	n/a	n/a
35	CTCF	chr2:144694905-144694973	NHEK	skin:	n/a	n/a
36	CTCF	chr2:144687521-144687594	GM10266	blood:	n/a	n/a
37	CTCF	chr2:144694743-144695042	Fibrobl	skin:	n/a	n/a
38	CTCF	chr2:144687440-144687590	GM12873	blood:	n/a	n/a
39	CTCF	chr2:144687505-144687635	GM19239	blood:	n/a	n/a
40	CTCF	chr2:144687540-144687690	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr2:144687500-144687650	HMF	breast:	n/a	n/a
42	CTCF	chr2:144687489-144687647	GM12892	blood:	n/a	n/a
43	CTCF	chr2:144694887-144694975	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:144694860-144694987	ProgFib	skin:	n/a	n/a
45	CTCF	chr2:144694894-144695005	GM12892	blood:	n/a	n/a
46	CTCF	chr2:144695800-144695950	NHLF	lung:	n/a	n/a
47	CTCF	chr2:144687540-144687690	GM12864	blood:	n/a	n/a
48	CTCF	chr2:144687520-144687593	GM13976	blood:	n/a	n/a
49	CTCF	chr2:144694927-144694992	Gliobla	brain:	n/a	n/a
50	CTCF	chr2:144694908-144694980	A549	lung:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:144692640-144692690	T-47D	breast:	n/a
2	chr2:144692640-144692690	T-47D	breast:	n/a
3	chr2:144695078-144695128	HIPEpiC	eye:	n/a
4	chr2:144694680-144694730	GM12892	blood:	n/a
5	chr2:144694405-144694455	HNPCEpiC	eye:	n/a
6	chr2:144695078-144695128	SK-N-SH_RA	brain:	n/a
7	chr2:144695179-144695229	HCT-116	colon:	n/a
8	chr2:144692640-144692690	HL-60	blood:	n/a
9	chr2:144695078-144695128	AG04449	skin:	fetal
10	chr2:144694809-144694859	Hepatocyte	liver:	n/a
11	chr2:144694809-144694859	GM12891	blood:	n/a
12	chr2:144692640-144692690	HCT-116	colon:	n/a
13	chr2:144694405-144694455	RPTEC	kidney:	n/a
14	chr2:144694405-144694455	HUVEC	blood vessel:	n/a
15	chr2:144692640-144692690	SAEC	small airway:	n/a
16	chr2:144693693-144693743	HepG2	liver:	n/a
17	chr2:144694680-144694730	U87	brain:	n/a
18	chr2:144694680-144694730	LNCaP	prostate:	n/a
19	chr2:144695078-144695128	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:144695257-144695307	AG04450	lung:	fetal
21	chr2:144693693-144693743	NHDF-neo	bronchial:	n/a
22	chr2:144693693-144693743	IMR90	lung:	fetal
23	chr2:144693693-144693743	HCM	heart:	n/a
24	chr2:144695078-144695128	ProgFib	skin:	n/a
25	chr2:144695179-144695229	NHDF-neo	bronchial:	n/a
26	chr2:144693693-144693743	SK-N-MC	brain:	n/a
27	chr2:144692640-144692690	AG04450	lung:	fetal
28	chr2:144695078-144695128	MCF10A-Er-Src	breast:	n/a
29	chr2:144694405-144694455	HEK293	kidney:	embryo
30	chr2:144694405-144694455	AoSMC	blood vessel:	n/a
31	chr2:144694680-144694730	K562	blood:	n/a
32	chr2:144693693-144693743	U87	brain:	n/a
33	chr2:144695078-144695128	SAEC	small airway:	n/a
34	chr2:144695078-144695128	Hepatocyte	liver:	n/a
35	chr2:144694405-144694455	U87	brain:	n/a
36	chr2:144694405-144694455	HAEpiC	amniotic membrane:	n/a
37	chr2:144695078-144695128	T-47D	breast:	n/a
38	chr2:144694405-144694455	AG09319	gingival:	n/a
39	chr2:144694809-144694859	RPTEC	kidney:	n/a
40	chr2:144695179-144695229	HEK293	kidney:	embryo
41	chr2:144694809-144694859	CMK	blood:	n/a
42	chr2:144694680-144694730	HCM	heart:	n/a
43	chr2:144695257-144695307	PrEC	prostate:	n/a
44	chr2:144695257-144695307	IMR90	lung:	fetal
45	chr2:144695179-144695229	HRPEpiC	eye:	n/a
46	chr2:144694809-144694859	AoSMC	blood vessel:	n/a
47	chr2:144694809-144694859	GM19239	blood:	n/a
48	chr2:144694680-144694730	AG09309	skin:	n/a
49	chr2:144694809-144694859	AG10803	skin:	n/a
50	chr2:144693693-144693743	GM12878	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:144681574..144683750-chr2:144691363..144693322,2	K562	blood:
2	chr2:144687027..144688572-chr2:144690618..144693270,2	K562	blood:
3	chr2:144687027..144688572-chr2:144690618..144693270,2	K562	blood:
4	chr2:144681574..144683750-chr2:144691363..144693322,2	K562	blood:
5	chr2:144669898..144672819-chr2:144685231..144687697,2	K562	blood:
6	chr2:144684000..144686293-chr2:145089370..145091647,2	K562	blood:
7	chr2:144685234..144688030-chr2:144717125..144719002,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-2	chr2:144694634-144695203	NR_110237
2	lnc-GTDC1-8	chr2:144695635-144696173	NONHSAT074751
3	lnc-ARHGAP15-2	chr2:144694640-144695203	ENSG00000232377.1

No data

Variant related genes	Relation type
ENSG00000232377	TF binding region
ENSG00000232377	CpG island
ENSG00000121964	chromatin interactions

Extended variants
information (count: 493 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2077724	chr2:144682018-144682019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187472884	chr2:144682042-144682043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190993584	chr2:144682114-144682115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567166142	chr2:144682172-144682173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371500584	chr2:144682173-144682174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183217419	chr2:144682252-144682253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374322321	chr2:144682265-144682266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs728609	chr2:144682287-144682288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534195928	chr2:144682309-144682310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs728610	chr2:144682334-144682335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529911298	chr2:144682390-144682391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368259379	chr2:144682494-144682495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186928518	chr2:144682506-144682507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192240466	chr2:144682544-144682545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184234597	chr2:144682558-144682559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187763257	chr2:144682597-144682598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537864579	chr2:144682598-144682599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570541216	chr2:144682621-144682622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531584069	chr2:144682622-144682623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141144778	chr2:144682626-144682627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372305641	chr2:144682629-144682630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535724370	chr2:144682642-144682643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144880681	chr2:144682662-144682663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538263695	chr2:144682668-144682669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193019546	chr2:144682675-144682676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533924218	chr2:144682742-144682743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558665110	chr2:144682766-144682767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576948772	chr2:144682769-144682770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544211843	chr2:144682809-144682810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555857806	chr2:144682819-144682820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574686160	chr2:144682822-144682823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376684205	chr2:144682962-144682963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs787154	chr2:144682964-144682965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571886200	chr2:144682966-144682967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185638705	chr2:144682974-144682975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138715184	chr2:144683001-144683002	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12999787	chr2:144683054-144683055	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189360451	chr2:144683056-144683057	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112636128	chr2:144683076-144683077	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192642734	chr2:144683105-144683106	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561896582	chr2:144683246-144683247	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529635221	chr2:144683295-144683296	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547773532	chr2:144683360-144683361	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566307355	chr2:144683368-144683369	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540024259	chr2:144683391-144683392	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184292142	chr2:144683392-144683393	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188535826	chr2:144683442-144683443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55755833	chr2:144683448-144683449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556164975	chr2:144683480-144683481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148879524	chr2:144683520-144683521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144676800-144690600	Weak transcription	Fetal Lung	lung
2	chr2:144678400-144685600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:144682200-144685600	Weak transcription	Fetal Kidney	kidney
4	chr2:144683000-144683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:144683200-144683400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:144683400-144684400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:144683400-144685200	Enhancers	Fetal Intestine Large	intestine
8	chr2:144683600-144684000	Enhancers	K562	blood
9	chr2:144683600-144684400	Enhancers	Fetal Intestine Small	intestine
10	chr2:144683800-144684400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:144683800-144684400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:144684400-144685600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:144685600-144685800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:144685600-144686600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:144685600-144686600	Enhancers	Fetal Kidney	kidney
16	chr2:144685600-144686600	Enhancers	Ovary	ovary
17	chr2:144685600-144686800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:144685800-144686200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:144685800-144686200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:144685800-144686600	Enhancers	HSMM	muscle
21	chr2:144686000-144686600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:144686200-144691600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:144686400-144686600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr2:144686400-144686800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:144686600-144687000	Weak transcription	HSMM	muscle
26	chr2:144686600-144689600	Weak transcription	Fetal Kidney	kidney
27	chr2:144686600-144691200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:144686600-144692400	Weak transcription	Ovary	ovary
29	chr2:144686800-144690600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:144686800-144691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:144689600-144694000	Enhancers	Fetal Kidney	kidney
32	chr2:144689800-144690000	Enhancers	Fetal Stomach	stomach
33	chr2:144690000-144691800	Weak transcription	Fetal Stomach	stomach
34	chr2:144690600-144692000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:144690600-144692000	Enhancers	Fetal Lung	lung
36	chr2:144691000-144691400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:144691000-144692800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:144691200-144693600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:144691200-144694000	Weak transcription	HSMM	muscle
40	chr2:144691200-144694200	Enhancers	Fetal Intestine Large	intestine
41	chr2:144691200-144694200	Enhancers	Fetal Intestine Small	intestine
42	chr2:144691400-144691600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:144691400-144692200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:144691600-144691800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:144691600-144692200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:144691600-144692200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:144691600-144692200	Enhancers	NHDF-Ad	bronchial
48	chr2:144691600-144692400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:144691600-144692600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr2:144691600-144692600	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links