Variant report

Variant	nsv960995
Chromosome Location	chr2:179857363-179867416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:179857520-179857670	AG04449	skin:	n/a	n/a
2	CTCF	chr2:179857607-179857706	Medullo	brain:	n/a	n/a
3	CTCF	chr2:179857228-179857933	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr2:179857553-179857751	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:179857593-179857692	NHEK	skin:	n/a	n/a
6	CTCF	chr2:179857595-179857744	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr2:179857540-179857690	AG09309	skin:	n/a	n/a
8	CTCF	chr2:179857556-179857743	Fibrobl	skin:	n/a	n/a
9	CTCF	chr2:179857603-179857675	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr2:179857560-179857710	NHLF	lung:	n/a	n/a
11	CTCF	chr2:179857540-179857690	AG09319	gingival:	n/a	n/a
12	CTCF	chr2:179857420-179857764	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:179857540-179857690	K562	blood:	n/a	n/a
14	CTCF	chr2:179857559-179857733	ProgFib	skin:	n/a	n/a
15	CTCF	chr2:179863960-179864110	NHLF	lung:	n/a	n/a
16	CTCF	chr2:179857402-179857832	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:179857680-179857830	HAc	cerebellar:	n/a	n/a
18	CTCF	chr2:179857577-179857718	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:179857540-179857690	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr2:179857520-179857670	Caco-2	colon:	n/a	n/a
21	CTCF	chr2:179857480-179857630	HCT-116	colon:	n/a	n/a
22	CTCF	chr2:179857540-179857690	HPF	lung:	n/a	n/a
23	CTCF	chr2:179857540-179857690	AG04450	lung:	n/a	n/a
24	CTCF	chr2:179857560-179857710	A549	lung:	n/a	n/a
25	CTCF	chr2:179857540-179857690	GM12872	blood:	n/a	n/a
26	CTCF	chr2:179857546-179857736	HepG2	liver:	n/a	n/a
27	CTCF	chr2:179857600-179857750	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr2:179857540-179857690	HCFaa	heart:	n/a	n/a
29	CTCF	chr2:179857542-179857736	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:179857520-179857670	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:179857480-179857630	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr2:179857540-179857690	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr2:179857540-179857690	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr2:179857560-179857710	HAc	cerebellar:	n/a	n/a
35	CTCF	chr2:179857500-179857650	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr2:179857580-179857730	GM12867	blood:	n/a	n/a
37	CTCF	chr2:179857540-179857739	HepG2	liver:	n/a	n/a
38	CTCF	chr2:179857598-179857706	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:179857540-179857690	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr2:179857540-179857690	BJ	skin:	n/a	n/a
41	CTCF	chr2:179857560-179857710	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:179857579-179857717	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:179857540-179857690	GM12874	blood:	n/a	n/a
44	CTCF	chr2:179857540-179857690	HEK293	kidney:	n/a	n/a
45	CTCF	chr2:179857540-179857737	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr2:179857597-179857698	GM19240	blood:	n/a	n/a
47	CTCF	chr2:179857760-179857910	NHLF	lung:	n/a	n/a
48	CTCF	chr2:179857560-179857710	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:179857574-179857725	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr2:179857540-179857690	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHA3-17	chr2:179866483-179866548	NONHSAT075822
2	lnc-PLEKHA3-17	chr2:179866849-179867487	NONHSAT075822

No data

Variant related genes	Relation type
RPS6P2	TF binding region

Extended variants
information (count: 402 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148662275	chr2:179857383-179857384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72963214	chr2:179857422-179857423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187530619	chr2:179857430-179857431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192060737	chr2:179857442-179857443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142138855	chr2:179857456-179857457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573048812	chr2:179857460-179857461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549299943	chr2:179857495-179857496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373389512	chr2:179857498-179857499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544815123	chr2:179857547-179857548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375258392	chr2:179857548-179857549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184909342	chr2:179857626-179857627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189752898	chr2:179857628-179857629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192404693	chr2:179857650-179857651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544276661	chr2:179857655-179857656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561366993	chr2:179857659-179857660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184304798	chr2:179857672-179857673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371708951	chr2:179857681-179857682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546942926	chr2:179857682-179857683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189492856	chr2:179857708-179857709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532813137	chr2:179857734-179857735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181763722	chr2:179857768-179857769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186424478	chr2:179857769-179857770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537179352	chr2:179857776-179857777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74759879	chr2:179857797-179857798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2134740	chr2:179857798-179857799	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535874620	chr2:179857832-179857833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566887928	chr2:179857838-179857839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189222064	chr2:179857907-179857908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375683490	chr2:179857974-179857975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151170272	chr2:179857999-179858000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139159213	chr2:179858035-179858036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181753285	chr2:179858052-179858053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575079111	chr2:179858134-179858135	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186465214	chr2:179858143-179858144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191298822	chr2:179858144-179858145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574827955	chr2:179858204-179858205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540277609	chr2:179858210-179858211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112017001	chr2:179858252-179858253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532884881	chr2:179858255-179858256	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572372255	chr2:179858287-179858288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546505333	chr2:179858301-179858302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113232662	chr2:179858326-179858327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376390953	chr2:179858351-179858352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531966680	chr2:179858358-179858359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568288261	chr2:179858364-179858365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548719251	chr2:179858394-179858395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554599040	chr2:179858425-179858426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574603331	chr2:179858435-179858436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4334528	chr2:179858447-179858448	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4334529	chr2:179858450-179858451	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179829600-179861800	Weak transcription	Fetal Heart	heart
2	chr2:179831200-179875600	Weak transcription	Left Ventricle	heart
3	chr2:179855600-179859000	Weak transcription	Thymus	Thymus
4	chr2:179856000-179863400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:179856000-179863600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:179857200-179862800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179858600-179859000	Enhancers	Liver	Liver
8	chr2:179858600-179859000	Weak transcription	HSMMtube	muscle
9	chr2:179858600-179859400	ZNF genes & repeats	Pancreas	Pancrea
10	chr2:179859000-179859200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:179859000-179859200	ZNF genes & repeats	Thymus	Thymus
12	chr2:179859000-179859200	ZNF genes & repeats	HSMMtube	muscle
13	chr2:179859200-179859400	Weak transcription	Thymus	Thymus
14	chr2:179859200-179863200	Weak transcription	Primary T cells from cord blood	blood
15	chr2:179859200-179863600	Weak transcription	HSMMtube	muscle
16	chr2:179860400-179864000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:179861000-179863600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:179861400-179862200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr2:179861800-179862600	Enhancers	Fetal Heart	heart
20	chr2:179862200-179863200	Enhancers	GM12878-XiMat	blood
21	chr2:179862200-179864200	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:179862600-179863000	Weak transcription	Fetal Heart	heart
23	chr2:179862800-179863800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:179862800-179864000	Enhancers	Primary B cells from cord blood	blood
25	chr2:179863000-179863200	Enhancers	Fetal Heart	heart
26	chr2:179863200-179863400	Flanking Active TSS	GM12878-XiMat	blood
27	chr2:179863200-179864000	Enhancers	Primary T cells from cord blood	blood
28	chr2:179863200-179864200	Weak transcription	Fetal Heart	heart
29	chr2:179863400-179863600	Enhancers	GM12878-XiMat	blood
30	chr2:179863400-179863800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:179863400-179864200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:179863600-179863800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr2:179863600-179863800	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:179863600-179864000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr2:179863600-179865000	Enhancers	HSMMtube	muscle
36	chr2:179863800-179864600	Enhancers	GM12878-XiMat	blood
37	chr2:179863800-179864800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:179864000-179864200	Enhancers	Right Ventricle	heart
39	chr2:179864000-179875000	Weak transcription	Primary T cells from cord blood	blood
40	chr2:179864000-179885000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:179864200-179865000	Enhancers	Fetal Heart	heart
42	chr2:179864200-179865200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:179864200-179865600	Weak transcription	Right Ventricle	heart
44	chr2:179864800-179866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:179865000-179866200	Weak transcription	Fetal Heart	heart
46	chr2:179865000-179870600	Weak transcription	HSMMtube	muscle
47	chr2:179865600-179866200	Enhancers	Right Ventricle	heart
48	chr2:179866000-179866200	Enhancers	Psoas Muscle	Psoas
49	chr2:179866200-179867600	Enhancers	Fetal Heart	heart
50	chr2:179866200-179870400	Weak transcription	Right Ventricle	heart

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