Variant report

Variant	esv2758907
Chromosome Location	chrY:20674826-21005064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 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	CEBPB	chrY:20812659-20812938	A549	lung:	n/a	n/a
2	CTCF	chrY:20760089-20760188	GM10266	blood:	n/a	n/a
3	CTCF	chrY:20747247-20747348	Medullo	brain:	n/a	n/a
4	CTCF	chrY:21004554-21004603	Medullo	brain:	n/a	n/a
5	CTCF	chrY:20719621-20719712	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chrY:20960380-20960452	Medullo	brain:	n/a	n/a
7	CTCF	chrY:20831729-20831969	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chrY:20727839-20728117	A549	lung:	n/a	n/a
9	CTCF	chrY:20883690-20883794	GM20000	blood:	n/a	n/a
10	CTCF	chrY:20850423-20850425	GM10266	blood:	n/a	n/a
11	CTCF	chrY:20755970-20755978	GM20000	blood:	n/a	n/a
12	CTCF	chrY:20866203-20866326	GM10248	blood:	n/a	n/a
13	CTCF	chrY:20882400-20882470	GM20000	blood:	n/a	n/a
14	CTCF	chrY:20891677-20891731	LNCaP	prostate:	n/a	n/a
15	CTCF	chrY:20948742-20948807	GM10248	blood:	n/a	n/a
16	CTCF	chrY:20831693-20831929	A549	lung:	n/a	n/a
17	CTCF	chrY:20831775-20831986	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chrY:20725767-20725850	GM19239	blood:	n/a	n/a
19	CTCF	chrY:20889435-20889507	LNCaP	prostate:	n/a	n/a
20	CTCF	chrY:20910699-20910758	Medullo	brain:	n/a	n/a
21	CTCF	chrY:20799485-20799574	GM20000	blood:	n/a	n/a
22	CTCF	chrY:20909397-20909487	HepG2	liver:	n/a	n/a
23	CTCF	chrY:20770227-20770415	ProgFib	skin:	n/a	n/a
24	CTCF	chrY:20831800-20831950	HPAF	blood vessel:	n/a	n/a
25	CTCF	chrY:20831761-20831952	LNCaP	prostate:	n/a	n/a
26	CTCF	chrY:20793661-20793717	ProgFib	skin:	n/a	n/a
27	CTCF	chrY:20732626-20732678	LNCaP	prostate:	n/a	n/a
28	CTCF	chrY:20873709-20873909	HepG2	liver:	n/a	n/a
29	CTCF	chrY:20926523-20926626	GM10266	blood:	n/a	n/a
30	CTCF	chrY:20831749-20831951	GM10248	blood:	n/a	n/a
31	CTCF	chrY:20831800-20831950	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chrY:20897533-20897568	GM10266	blood:	n/a	n/a
33	CTCF	chrY:20831820-20831970	GM12871	blood:	n/a	n/a
34	CTCF	chrY:20990799-20990914	GM20000	blood:	n/a	n/a
35	CTCF	chrY:20831704-20831989	Medullo	brain:	n/a	n/a
36	CTCF	chrY:20916086-20916315	GM10248	blood:	n/a	n/a
37	CTCF	chrY:20770232-20770438	A549	lung:	n/a	n/a
38	CTCF	chrY:20765200-20765268	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chrY:20938026-20938078	Medullo	brain:	n/a	n/a
40	CTCF	chrY:20727885-20728072	GM12891	blood:	n/a	n/a
41	CTCF	chrY:20698787-20698820	A549	lung:	n/a	n/a
42	CTCF	chrY:20952365-20952547	ProgFib	skin:	n/a	n/a
43	CTCF	chrY:20707916-20707956	GM10266	blood:	n/a	n/a
44	CTCF	chrY:20831842-20831927	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chrY:20873972-20873981	ProgFib	skin:	n/a	n/a
46	CTCF	chrY:20916142-20916246	ProgFib	skin:	n/a	n/a
47	CTCF	chrY:20866163-20866281	HepG2	liver:	n/a	n/a
48	CTCF	chrY:20980635-20980654	Medullo	brain:	n/a	n/a
49	CTCF	chrY:20946698-20946842	GM10266	blood:	n/a	n/a
50	CTCF	chrY:20691696-20691764	GM20000	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:20736147-20736197	AG04450	lung:	fetal
2	chrY:20748782-20748832	MCF10A-Er-Src	breast:	n/a
3	chrY:20736147-20736197	ProgFib	skin:	n/a
4	chrY:20736147-20736197	AG04449	skin:	fetal
5	chrY:20736147-20736197	HUVEC	blood vessel:	n/a
6	chrY:20748782-20748832	HNPCEpiC	eye:	n/a
7	chrY:20736147-20736197	PrEC	prostate:	n/a
8	chrY:20736147-20736197	SAEC	small airway:	n/a
9	chrY:20748782-20748832	ECC-1	luminal epithelium:	n/a
10	chrY:20736147-20736197	HCM	heart:	n/a
11	chrY:20748782-20748832	BJ	skin:	n/a
12	chrY:20748782-20748832	HL-60	blood:	n/a
13	chrY:20748782-20748832	HUVEC	blood vessel:	n/a
14	chrY:20736147-20736197	HPAEpiC	pulmonary alveolar:	n/a
15	chrY:20748782-20748832	Caco-2	colon:	n/a
16	chrY:20748782-20748832	LNCaP	prostate:	n/a
17	chrY:20736147-20736197	Hela-S3	cervix:	n/a
18	chrY:20748782-20748832	SK-N-MC	brain:	n/a
19	chrY:20736147-20736197	HL-60	blood:	n/a
20	chrY:20736147-20736197	AG10803	skin:	n/a
21	chrY:20736147-20736197	GM12892	blood:	n/a
22	chrY:20748782-20748832	MCF-7	breast:	n/a
23	chrY:20748782-20748832	ovcar-3	ovarian:	n/a
24	chrY:20736147-20736197	SKMC	muscle:	n/a
25	chrY:20748782-20748832	HCM	heart:	n/a
26	chrY:20748782-20748832	HAEpiC	amniotic membrane:	n/a
27	chrY:20748782-20748832	HPAEpiC	pulmonary alveolar:	n/a
28	chrY:20736147-20736197	NB4	blood:	n/a
29	chrY:20748782-20748832	GM12878	blood:	n/a
30	chrY:20748782-20748832	PrEC	prostate:	n/a
31	chrY:20736147-20736197	GM19239	blood:	n/a
32	chrY:20748782-20748832	A549	lung:	n/a
33	chrY:20736147-20736197	HCT-116	colon:	n/a
34	chrY:20748782-20748832	HRPEpiC	eye:	n/a
35	chrY:20748782-20748832	H1-hESC	embryonic stem cell:	embryo
36	chrY:20748782-20748832	NT2-D1	testis:	n/a
37	chrY:20736147-20736197	NH-A	brain:	n/a
38	chrY:20736147-20736197	HRCEpiC	kidney:	n/a
39	chrY:20736147-20736197	GM12878	blood:	n/a
40	chrY:20748782-20748832	AG09319	gingival:	n/a
41	chrY:20748782-20748832	BE2_C	brain:	n/a
42	chrY:20748782-20748832	K562	blood:	n/a
43	chrY:20748782-20748832	HRE	kidney:	n/a
44	chrY:20736147-20736197	HAEpiC	amniotic membrane:	n/a
45	chrY:20748782-20748832	HRCEpiC	kidney:	n/a
46	chrY:20748782-20748832	ProgFib	skin:	n/a
47	chrY:20748782-20748832	CMK	blood:	n/a
48	chrY:20736147-20736197	RPTEC	kidney:	n/a
49	chrY:20736147-20736197	Hepatocyte	liver:	n/a
50	chrY:20736147-20736197	GM12891	blood:	n/a

No data

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSFY2-2	chrY:20749298-20749434	ENSG00000131007.5
2	lnc-HSFY2-5	chrY:20938165-20938289	NONHSAT139595
3	lnc-HSFY1-11	chrY:20991185-20991373	NONHSAT139599
4	lnc-HSFY1-5	chrY:20691244-20691509	NONHSAT139580
5	lnc-HSFY1-2	chrY:20894045-20894158	ENSG00000131009.4
6	lnc-HSFY2-7	chrY:20995360-20995534	NONHSAT139600
7	lnc-HSFY1-4	chrY:20702866-20702995	NONHSAT139582
8	lnc-HSFY1-11	chrY:20989185-20989278	NONHSAT139599
9	lnc-HSFY1-11	chrY:20988983-20989106	NONHSAT139599
10	lnc-HSFY2-9	chrY:20694212-20694542	NONHSAT139581
11	lnc-HSFY1-4	chrY:20705890-20706014	NONHSAT139582
12	lnc-HSFY1-2	chrY:20899941-20901083	ENSG00000131009.4
13	lnc-HSFY2-2	chrY:20752266-20752407	ENSG00000131007.5
14	lnc-HSFY1-11	chrY:20987993-20988213	NONHSAT139599
15	lnc-HSFY2-2	chrY:20743092-20744234	ENSG00000131007.5
16	lnc-HSFY2-2	chrY:20743092-20744234	ENSG00000131007.5
17	lnc-HSFY1-2	chrY:20894741-20894877	NONHSAT139592
18	lnc-HSFY1-10	chrY:20949636-20949966	NONHSAT139596
19	lnc-HSFY2-2	chrY:20750017-20750130	ENSG00000131007.5
20	lnc-HSFY2-2	chrY:20750492-20750598	ENSG00000131007.5
21	lnc-HSFY2-7	chrY:20995776-20995804	NONHSAT139600
22	lnc-HSFY2-7	chrY:20994888-20994983	NONHSAT139600
23	lnc-HSFY2-2	chrY:20749298-20749434	ENSG00000131007.5
24	lnc-HSFY1-2	chrY:20894045-20894158	NONHSAT139592
25	lnc-HSFY2-2	chrY:20750017-20750130	ENSG00000131007.5
26	lnc-HSFY1-2	chrY:20894741-20894877	ENSG00000131009.4
27	lnc-HSFY2-7	chrY:20995937-20996093	NONHSAT139600
28	lnc-HSFY1-2	chrY:20893577-20893683	NONHSAT139592
29	lnc-HSFY2-2	chrY:20750492-20750592	ENSG00000131007.5
30	lnc-HSFY2-5	chrY:20938702-20939447	NONHSAT139595
31	lnc-HSFY1-2	chrY:20899941-20901083	NONHSAT139592
32	lnc-HSFY1-4	chrY:20704732-20705478	NONHSAT139582
33	lnc-HSFY2-6	chrY:20973224-20973715	NONHSAT139598
34	lnc-HSFY2-7	chrY:21001068-21001199	NONHSAT139600
35	lnc-HSFY1-2	chrY:20891768-20891909	ENSG00000131009.4
36	lnc-HSFY1-2	chrY:20893583-20893683	ENSG00000131009.4
37	lnc-HSFY2-5	chrY:20941185-20941313	NONHSAT139595

No data

Variant related genes	Relation type
OFD1P6Y	TF binding region
TTTY9B	TF binding region
USP9YP10	TF binding region
TCEB1P7	TF binding region
USP9YP2	TF binding region
USP9YP1	TF binding region
TCEB1P14	TF binding region
RNU1-41P	TF binding region
XKRYP2	TF binding region
PRYP6	TF binding region
HSFY1	TF binding region
TRAPPC2P7	TF binding region
USP9YP28	TF binding region
OFD1P5Y	TF binding region
RAB9AP4	TF binding region
PRYP5	TF binding region
HSFY2	TF binding region
GPM6BP2	TF binding region
GPM6BP1	TF binding region
OFD1P6Y	CpG island
TTTY9B	CpG island
USP9YP10	CpG island
TCEB1P7	CpG island
USP9YP2	CpG island
USP9YP1	CpG island
TCEB1P14	CpG island
RNU1-41P	CpG island
XKRYP2	CpG island
PRYP6	CpG island
HSFY1	CpG island
TRAPPC2P7	CpG island
USP9YP28	CpG island
OFD1P5Y	CpG island
RAB9AP4	CpG island
PRYP5	CpG island
HSFY2	CpG island
GPM6BP2	CpG island
GPM6BP1	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35597989	chrY:20807206-20807207	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs67053054	chrY:20811307-20811308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374694350	chrY:20811364-20811365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367826259	chrY:20811376-20811377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13304791	chrY:20815730-20815731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13305190	chrY:20815738-20815739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13305470	chrY:20815739-20815740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13305347	chrY:20815765-20815766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377676703	chrY:20815816-20815817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112594658	chrY:20815834-20815835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13303921	chrY:20815886-20815887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13303924	chrY:20815888-20815889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369852836	chrY:20816211-20816212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374662939	chrY:20816516-20816517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376484921	chrY:20826983-20826984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34760176	chrY:20827177-20827178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374240543	chrY:20827796-20827797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76389735	chrY:20828172-20828173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368408685	chrY:20828486-20828487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372214569	chrY:20828549-20828550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs9786501	chrY:20828795-20828796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs35125699	chrY:20831549-20831550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs13303953	chrY:20832009-20832010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs13304468	chrY:20832033-20832034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs13304003	chrY:20832034-20832035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs13304438	chrY:20832062-20832063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs13304954	chrY:20832066-20832067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs13304582	chrY:20832076-20832077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13305244	chrY:20832084-20832085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs13304603	chrY:20832092-20832093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs13305335	chrY:20832125-20832126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs13304693	chrY:20832126-20832127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs13305363	chrY:20832136-20832137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs13304715	chrY:20832137-20832138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs112428276	chrY:20957936-20957937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:20807200-20807600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chrY:20811000-20811400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chrY:20815600-20816600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chrY:20826600-20826800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrY:20826800-20828200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chrY:20828200-20828800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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