Variant report

Variant	nsv510872
Chromosome Location	chrY:5975458-6038342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrY:5978902-5978908	GM20000	blood:	n/a	n/a
2	CTCF	chrY:5985985-5986036	HUVEC	blood vessel:	n/a	n/a
3	CTCF	chrY:5980889-5980906	LNCaP	prostate:	n/a	n/a
4	CTCF	chrY:5980835-5980959	A549	lung:	n/a	n/a
5	CTCF	chrY:6030250-6030332	GM10248	blood:	n/a	n/a
6	CTCF	chrY:6027103-6027196	GM20000	blood:	n/a	n/a
7	CTCF	chrY:6037600-6037689	GM20000	blood:	n/a	n/a
8	CTCF	chrY:6009412-6009438	GM10248	blood:	n/a	n/a
9	CTCF	chrY:6017714-6017797	Medullo	brain:	n/a	n/a
10	CTCF	chrY:5980869-5980933	LNCaP	prostate:	n/a	n/a
11	CTCF	chrY:5980853-5980937	GM19239	blood:	n/a	n/a
12	CTCF	chrY:5980847-5980956	GM10266	blood:	n/a	n/a
13	CTCF	chrY:5979127-5979171	ProgFib	skin:	n/a	n/a
14	CTCF	chrY:5980792-5980984	GM12891	blood:	n/a	n/a
15	CTCF	chrY:5980840-5980990	GM12872	blood:	n/a	n/a
16	CTCF	chrY:5995192-5995212	ProgFib	skin:	n/a	n/a
17	CTCF	chrY:5980775-5980943	HepG2	liver:	n/a	n/a
18	CTCF	chrY:6025792-6025900	GM20000	blood:	n/a	n/a
19	CTCF	chrY:5980783-5980988	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chrY:5992585-5992650	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chrY:5994712-5994783	GM20000	blood:	n/a	n/a
22	CTCF	chrY:5987885-5987939	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrY:5975820-5975882	GM10266	blood:	n/a	n/a
24	CTCF	chrY:6023395-6023455	ProgFib	skin:	n/a	n/a
25	CTCF	chrY:5998926-5998956	ProgFib	skin:	n/a	n/a
26	CTCF	chrY:5994340-5994366	GM20000	blood:	n/a	n/a
27	CTCF	chrY:6030245-6030329	GM10266	blood:	n/a	n/a
28	CTCF	chrY:5980810-5980981	GM20000	blood:	n/a	n/a
29	CTCF	chrY:5990607-5990622	ProgFib	skin:	n/a	n/a
30	CTCF	chrY:6021658-6021726	GM10248	blood:	n/a	n/a
31	CTCF	chrY:5984651-5984730	GM10248	blood:	n/a	n/a
32	CTCF	chrY:5997803-5997914	LNCaP	prostate:	n/a	n/a
33	CTCF	chrY:5980000-5980048	Medullo	brain:	n/a	n/a
34	CTCF	chrY:5997561-5997578	LNCaP	prostate:	n/a	n/a
35	CTCF	chrY:6025223-6025259	GM10248	blood:	n/a	n/a
36	CTCF	chrY:6036510-6036585	GM10266	blood:	n/a	n/a
37	CTCF	chrY:6011348-6011459	Medullo	brain:	n/a	n/a
38	CTCF	chrY:6003307-6003319	A549	lung:	n/a	n/a
39	CTCF	chrY:5984766-5984812	LNCaP	prostate:	n/a	n/a
40	CTCF	chrY:6028634-6028670	LNCaP	prostate:	n/a	n/a
41	CTCF	chrY:6002096-6002127	GM10248	blood:	n/a	n/a
42	MAFK	chrY:6029482-6029792	HepG2	liver:	n/a	chrY:6029615-6029630
43	MAFK	chrY:6029613-6029784	HepG2	liver:	n/a	chrY:6029615-6029630
44	MAFK	chrY:6022635-6022757	HepG2	liver:	n/a	n/a
45	MYC	chrY:5991000-5991123	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chrY:6033133-6033145	HepG2	liver:	n/a	n/a
47	MYC	chrY:5995171-5995238	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chrY:5997650-5997730	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chrY:6009411-6009527	A549	lung:	n/a	n/a
50	POLR2A	chrY:5995219-5995554	A549	lung:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPY2-5	chrY:6026843-6027306	NONHSAT139330

No data

Variant related genes	Relation type
DLGAP5P1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 29 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575127806	chrY:5998156-5998157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370749766	chrY:5998261-5998262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373023231	chrY:5998491-5998492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34014055	chrY:5998806-5998807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35361412	chrY:5998809-5998810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4027906	chrY:5998972-5998973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3951034	chrY:5999003-5999004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370506133	chrY:5999035-5999036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2767882	chrY:5999079-5999080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2767883	chrY:5999080-5999081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2767884	chrY:5999139-5999140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374058610	chrY:5999271-5999272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4027890	chrY:5999306-5999307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73612993	chrY:5999355-5999356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73612994	chrY:5999533-5999534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs207480781	chrY:5999679-5999680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs207480782	chrY:5999685-5999686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs207480783	chrY:5999833-5999834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374449875	chrY:5999836-5999837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9786527	chrY:5999859-5999860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs207480784	chrY:5999869-5999870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36062389	chrY:5999942-5999943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111313139	chrY:6000030-6000031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367547420	chrY:6000146-6000147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568146592	chrY:6000185-6000186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7067483	chrY:6000464-6000465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4617339	chrY:6000520-6000521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs207480786	chrY:6000625-6000626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs207480787	chrY:6000713-6000714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs207480788	chrY:6000754-6000755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76303663	chrY:6004228-6004229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs207480795	chrY:6004247-6004248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs207480798	chrY:6006838-6006839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs112368780	chrY:6007087-6007088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs113118964	chrY:6007127-6007128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112379147	chrY:6007257-6007258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13304013	chrY:6007290-6007291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371113284	chrY:6007291-6007292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34917221	chrY:6007305-6007306	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34839072	chrY:6007384-6007385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200931641	chrY:6025874-6025875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs207480803	chrY:6026921-6026922	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs207480804	chrY:6027201-6027202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs113267606	chrY:6027274-6027275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:29)

Disease	PMID	Source
Steroid sulfatase deficiency	22470819	CNVD
Testicular failure	20966427	CNVD
Honadal dysgenesis	22138850	CNVD
severe oligozoospermia and azoospermia	19731213	CNVD
Ewing''s sarcoma	21437220	CNVD
infertility	21210740	CNVD
Klinefelter syndrome	17968468	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
infertility	20668881	CNVD
Klinefelter syndrome	20603808	CNVD
Meiotic abnormalities	17428878	CNVD
Oligozoospermia	20576090	CNVD
Azoospermia	16445861	CNVD
Cryptorchidism	16988323	CNVD
Non-syndromic sensorineural hearing loss	17409464	CNVD
infertile	20603812	CNVD
infertile	22120929	CNVD
infertile	19369647	CNVD
severe oligozoospermia and azoospermia	21887237	CNVD
spermatozoa with elongated heads	17208942	CNVD
Azoospermia	17187159	CNVD
Oligozoospermia	17187159	CNVD
infertile	19440834	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Incontinentia Pigmenti	22033527	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:5998000-5999000	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chrY:5999000-5999400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chrY:5999400-6000800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chrY:5999600-6000200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chrY:6004000-6004400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chrY:6006800-6007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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