Variant report

Variant	esv3430705
Chromosome Location	chrY:20340842-20694293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:595)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrY:20353001-20353022	Medullo	brain:	n/a	n/a
2	CTCF	chrY:20607859-20608126	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chrY:20399619-20399622	A549	lung:	n/a	n/a
4	CTCF	chrY:20421618-20421672	GM10248	blood:	n/a	n/a
5	CTCF	chrY:20595050-20595093	HepG2	liver:	n/a	n/a
6	CTCF	chrY:20396350-20396465	Medullo	brain:	n/a	n/a
7	CTCF	chrY:20649366-20649431	GM20000	blood:	n/a	n/a
8	CTCF	chrY:20534070-20534123	GM10248	blood:	n/a	n/a
9	CTCF	chrY:20607795-20608113	HepG2	liver:	n/a	n/a
10	CTCF	chrY:20621098-20621362	A549	lung:	n/a	n/a
11	CTCF	chrY:20611261-20611340	Medullo	brain:	n/a	n/a
12	CTCF	chrY:20633062-20633200	GM20000	blood:	n/a	n/a
13	CTCF	chrY:20586077-20586575	A549	lung:	n/a	n/a
14	CTCF	chrY:20569261-20569338	Medullo	brain:	n/a	n/a
15	CTCF	chrY:20595167-20595233	GM10248	blood:	n/a	n/a
16	CTCF	chrY:20665413-20665475	ProgFib	skin:	n/a	n/a
17	CTCF	chrY:20571879-20572020	Medullo	brain:	n/a	n/a
18	CTCF	chrY:20375819-20375870	HepG2	liver:	n/a	n/a
19	CTCF	chrY:20427168-20427247	LNCaP	prostate:	n/a	n/a
20	CTCF	chrY:20607640-20608244	A549	lung:	n/a	n/a
21	CTCF	chrY:20567516-20567565	Medullo	brain:	n/a	n/a
22	CTCF	chrY:20549596-20549625	GM10248	blood:	n/a	n/a
23	CTCF	chrY:20495668-20495749	LNCaP	prostate:	n/a	n/a
24	CTCF	chrY:20691674-20691777	GM10266	blood:	n/a	n/a
25	CTCF	chrY:20649783-20649867	GM20000	blood:	n/a	n/a
26	CTCF	chrY:20459044-20459079	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chrY:20381943-20382048	GM20000	blood:	n/a	n/a
28	CTCF	chrY:20488887-20488924	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chrY:20647594-20647678	GM10266	blood:	n/a	n/a
30	CTCF	chrY:20556087-20556216	Medullo	brain:	n/a	n/a
31	CTCF	chrY:20567400-20567506	Medullo	brain:	n/a	n/a
32	CTCF	chrY:20572293-20572370	GM10266	blood:	n/a	n/a
33	CTCF	chrY:20607806-20608132	GM10248	blood:	n/a	n/a
34	CTCF	chrY:20417513-20417619	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chrY:20691665-20691770	Medullo	brain:	n/a	n/a
36	CTCF	chrY:20359764-20359793	Medullo	brain:	n/a	n/a
37	CTCF	chrY:20380967-20381018	Medullo	brain:	n/a	n/a
38	CTCF	chrY:20374585-20374618	GM10248	blood:	n/a	n/a
39	CTCF	chrY:20607848-20608152	LNCaP	prostate:	n/a	n/a
40	CTCF	chrY:20504209-20504267	GM19239	blood:	n/a	n/a
41	CTCF	chrY:20622380-20622600	GM10266	blood:	n/a	n/a
42	CTCF	chrY:20671031-20671101	LNCaP	prostate:	n/a	n/a
43	CTCF	chrY:20493174-20493199	LNCaP	prostate:	n/a	n/a
44	CTCF	chrY:20488465-20488814	LNCaP	prostate:	n/a	n/a
45	CTCF	chrY:20647633-20647672	ProgFib	skin:	n/a	n/a
46	CTCF	chrY:20490184-20490204	GM10266	blood:	n/a	n/a
47	CTCF	chrY:20586153-20586491	LNCaP	prostate:	n/a	n/a
48	CTCF	chrY:20586178-20586460	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chrY:20490316-20490348	GM10266	blood:	n/a	n/a
50	CTCF	chrY:20614562-20614617	ProgFib	skin:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:20488269-20488319	HRPEpiC	eye:	n/a
2	chrY:20488269-20488319	RPTEC	kidney:	n/a
3	chrY:20501241-20501291	HCF	heart:	n/a
4	chrY:20508362-20508412	GM12878	blood:	n/a
5	chrY:20488293-20488343	HCF	heart:	n/a
6	chrY:20508275-20508325	NB4	blood:	n/a
7	chrY:20501241-20501291	HCPEpiC	choroid plexus:	n/a
8	chrY:20501241-20501291	Caco-2	colon:	n/a
9	chrY:20488293-20488343	HCT-116	colon:	n/a
10	chrY:20508362-20508412	NT2-D1	testis:	n/a
11	chrY:20508362-20508412	ovcar-3	ovarian:	n/a
12	chrY:20501241-20501291	AG04449	skin:	fetal
13	chrY:20488280-20488330	ProgFib	skin:	n/a
14	chrY:20501241-20501291	MCF-7	breast:	n/a
15	chrY:20508362-20508412	HEK293	kidney:	embryo
16	chrY:20508275-20508325	GM12891	blood:	n/a
17	chrY:20488293-20488343	MCF-7	breast:	n/a
18	chrY:20508275-20508325	AG04450	lung:	fetal
19	chrY:20508362-20508412	SAEC	small airway:	n/a
20	chrY:20501241-20501291	H1-hESC	embryonic stem cell:	embryo
21	chrY:20488280-20488330	NHDF-neo	bronchial:	n/a
22	chrY:20501241-20501291	SK-N-MC	brain:	n/a
23	chrY:20508275-20508325	HIPEpiC	eye:	n/a
24	chrY:20508275-20508325	AG04449	skin:	fetal
25	chrY:20501241-20501291	AG09319	gingival:	n/a
26	chrY:20488293-20488343	HAEpiC	amniotic membrane:	n/a
27	chrY:20488269-20488319	LNCaP	prostate:	n/a
28	chrY:20488269-20488319	AG04449	skin:	fetal
29	chrY:20488269-20488319	GM12878	blood:	n/a
30	chrY:20488293-20488343	HRE	kidney:	n/a
31	chrY:20488293-20488343	AG09319	gingival:	n/a
32	chrY:20501241-20501291	NB4	blood:	n/a
33	chrY:20508275-20508325	PrEC	prostate:	n/a
34	chrY:20488269-20488319	HEK293	kidney:	embryo
35	chrY:20501241-20501291	NH-A	brain:	n/a
36	chrY:20488269-20488319	U87	brain:	n/a
37	chrY:20508362-20508412	NH-A	brain:	n/a
38	chrY:20488269-20488319	Hela-S3	cervix:	n/a
39	chrY:20488293-20488343	BE2_C	brain:	n/a
40	chrY:20508362-20508412	SKMC	muscle:	n/a
41	chrY:20488280-20488330	SK-N-SH_RA	brain:	n/a
42	chrY:20488293-20488343	SK-N-SH_RA	brain:	n/a
43	chrY:20508275-20508325	T-47D	breast:	n/a
44	chrY:20508362-20508412	HIPEpiC	eye:	n/a
45	chrY:20501241-20501291	IMR90	lung:	fetal
46	chrY:20488293-20488343	Hepatocyte	liver:	n/a
47	chrY:20488293-20488343	AoSMC	blood vessel:	n/a
48	chrY:20488269-20488319	HCF	heart:	n/a
49	chrY:20488269-20488319	A549	lung:	n/a
50	chrY:20488269-20488319	T-47D	breast:	n/a

No data

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSFY1-8	chrY:20648080-20648236	NONHSAT139575
2	lnc-HSFY2-4	chrY:20553567-20553737	ENSG00000226362
3	lnc-HSFY1-9	chrY:20602683-20603011	NONHSAT139573
4	lnc-HSFY1-8	chrY:20648639-20648814	NONHSAT139575
5	lnc-HSFY2-4	chrY:20553364-20553457	ENSG00000226362
6	lnc-HSFY2-4	chrY:20566775-20566932	ENSG00000226362
7	lnc-HSFY2-4	chrY:20554672-20554800	ENSG00000226362.2
8	lnc-HSFY2-4	chrY:20566130-20566179	ENSG00000226362
9	lnc-HSFY2-4	chrY:20551965-20552186	ENSG00000226362
10	lnc-HSFY1-6	chrY:20670463-20670954	NONHSAT139579
11	lnc-HSFY2-4	chrY:20566775-20566932	ENSG00000226362.2
12	lnc-HSFY2-4	chrY:20551156-20551882	ENSG00000226362
13	lnc-CDY2B-10	chrY:20340818-20341146	NONHSAT139564
14	lnc-HSFY2-9	chrY:20694212-20694542	NONHSAT139581
15	lnc-HSFY2-4	chrY:20552399-20552586	ENSG00000226362
16	lnc-HSFY2-4	chrY:20554331-20554424	ENSG00000226362
17	lnc-HSFY2-4	chrY:20554672-20554800	ENSG00000226362
18	lnc-CDY2B-13	chrY:20438909-20439381	NONHSAT139566
19	lnc-HSFY2-11	chrY:20654896-20654988	NONHSAT139577
20	lnc-HSFY2-4	chrY:20552880-20553089	ENSG00000226362
21	lnc-CDY2B-11	chrY:20344721-20346300	NONHSAT139565
22	lnc-CDY2B-13	chrY:20438493-20438534	NONHSAT139566
23	lnc-HSFY2-11	chrY:20655961-20656181	NONHSAT139577
24	lnc-HSFY2-4	chrY:20553364-20553457	ENSG00000226362.2
25	lnc-HSFY2-4	chrY:20552880-20553089	ENSG00000226362.2
26	lnc-HSFY2-11	chrY:20655067-20655191	NONHSAT139577
27	lnc-HSFY2-4	chrY:20554331-20554424	ENSG00000226362.2
28	lnc-HSFY1-5	chrY:20691244-20691509	NONHSAT139580
29	lnc-HSFY1-8	chrY:20649191-20649286	NONHSAT139575
30	lnc-HSFY1-8	chrY:20642973-20643106	NONHSAT139575
31	lnc-HSFY2-4	chrY:20553567-20553737	ENSG00000226362.2
32	lnc-HSFY2-4	chrY:20566130-20566179	ENSG00000226362.2
33	lnc-HSFY2-11	chrY:20652801-20652991	NONHSAT139577

No data

Variant related genes	Relation type
OFD1P4Y	TF binding region
XKRYP1	TF binding region
CDY9P	TF binding region
USP9YP5	TF binding region
FAM41AY2	TF binding region
USP9YP14	TF binding region
TAF9P2	TF binding region
TUBB1P1	TF binding region
RNA5SP523	TF binding region
ENSG00000251510	TF binding region
RNU1-48P	TF binding region
FAM224A	TF binding region
ENSG00000252439	TF binding region
RNA5SP522	TF binding region
TCEB1P26	TF binding region
PRYP5	TF binding region
CLUHP2	TF binding region
TCEB1P13	TF binding region
OFD1P4Y	CpG island
XKRYP1	CpG island
CDY9P	CpG island
USP9YP5	CpG island
FAM41AY2	CpG island
USP9YP14	CpG island
TAF9P2	CpG island
TUBB1P1	CpG island
RNA5SP523	CpG island
ENSG00000251510	CpG island
RNU1-48P	CpG island
FAM224A	CpG island
ENSG00000252439	CpG island
RNA5SP522	CpG island
TCEB1P26	CpG island
PRYP5	CpG island
CLUHP2	CpG island
TCEB1P13	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111759873	chrY:20487378-20487379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112796730	chrY:20487829-20487830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113471154	chrY:20545229-20545230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112601695	chrY:20571899-20571900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs112435279	chrY:20571921-20571922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372004785	chrY:20659368-20659369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs376329594	chrY:20659369-20659370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368336148	chrY:20659370-20659371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372923477	chrY:20659374-20659375	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
infertility	21340528	CNVD
Klinefelter syndrome	16612480	CNVD
infertile	16612480	CNVD
Infertility	16469004	CNVD
Recurrent pregnancy loss	20943704	CNVD
infertile	16469004	CNVD
infertility	18832950	CNVD
Maturation arrest	22820855	CNVD
Azoospermia	16709604	CNVD
Astheno-teratozoospermia syndrome	22371775	CNVD
Asthenozoospermia	22371775	CNVD
Azoospermia	22371775	CNVD
Oligoasthenoteratozoospermia	22371775	CNVD
Oligoasthenozoospermia	22371775	CNVD
Oligoteratozoospermia	22371775	CNVD
Teratozoospermia	22371775	CNVD
infertile	17554051	CNVD
Klinefelter syndrome	20805717	CNVD
subfertile	22371775	CNVD
infertile	19966830	CNVD
Azoospermia	20823911	CNVD
Non-syndromic sensorineural hearing loss	18200580	CNVD
infertile oligozoospermic	17712493	CNVD
Hereditary coagulopathy	21993689	CNVD
Honadal dysgenesis	21048976	CNVD
Breast cancer	21045282	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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