Variant report

Variant	esv2758602
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:20708273-20708321	GM10248	blood:	n/a	n/a
3	CTCF	chrY:20851369-20851572	A549	lung:	n/a	n/a
4	CTCF	chrY:20952321-20952591	A549	lung:	n/a	n/a
5	CTCF	chrY:20954096-20954133	GM10266	blood:	n/a	n/a
6	CTCF	chrY:20851383-20851567	LNCaP	prostate:	n/a	n/a
7	CTCF	chrY:20732627-20732677	HepG2	liver:	n/a	n/a
8	CTCF	chrY:20934025-20934082	Medullo	brain:	n/a	n/a
9	CTCF	chrY:20912161-20912229	GM20000	blood:	n/a	n/a
10	CTCF	chrY:20911479-20911602	Medullo	brain:	n/a	n/a
11	CTCF	chrY:21002393-21002444	HepG2	liver:	n/a	n/a
12	CTCF	chrY:20755884-20755964	GM20000	blood:	n/a	n/a
13	CTCF	chrY:20873540-20873562	GM10248	blood:	n/a	n/a
14	CTCF	chrY:20831780-20831930	HPAF	blood vessel:	n/a	n/a
15	CTCF	chrY:20911555-20911565	GM10266	blood:	n/a	n/a
16	CTCF	chrY:20949522-20949667	GM10266	blood:	n/a	n/a
17	CTCF	chrY:20990799-20990914	GM20000	blood:	n/a	n/a
18	CTCF	chrY:20866191-20866308	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chrY:20762242-20762288	GM10248	blood:	n/a	n/a
20	CTCF	chrY:20959686-20959778	LNCaP	prostate:	n/a	n/a
21	CTCF	chrY:20952288-20952377	GM20000	blood:	n/a	n/a
22	CTCF	chrY:20795269-20795326	Medullo	brain:	n/a	n/a
23	CTCF	chrY:20988088-20988160	Medullo	brain:	n/a	n/a
24	CTCF	chrY:20732635-20732741	LNCaP	prostate:	n/a	n/a
25	CTCF	chrY:20777845-20777939	ProgFib	skin:	n/a	n/a
26	CTCF	chrY:20707916-20707956	GM10266	blood:	n/a	n/a
27	CTCF	chrY:20921281-20921323	GM10266	blood:	n/a	n/a
28	CTCF	chrY:20881388-20881435	GM10266	blood:	n/a	n/a
29	CTCF	chrY:20866168-20866285	HUVEC	blood vessel:	n/a	n/a
30	CTCF	chrY:20938026-20938078	Medullo	brain:	n/a	n/a
31	CTCF	chrY:20959187-20959238	GM10266	blood:	n/a	n/a
32	CTCF	chrY:20831779-20831981	GM19239	blood:	n/a	n/a
33	CTCF	chrY:20916023-20916301	A549	lung:	n/a	n/a
34	CTCF	chrY:20916093-20916258	LNCaP	prostate:	n/a	n/a
35	CTCF	chrY:20911494-20911538	ProgFib	skin:	n/a	n/a
36	CTCF	chrY:20975416-20975520	Medullo	brain:	n/a	n/a
37	CTCF	chrY:20864076-20864095	ProgFib	skin:	n/a	n/a
38	CTCF	chrY:20831680-20831830	HCM	heart:	n/a	n/a
39	CTCF	chrY:20831420-20831570	HPAF	blood vessel:	n/a	n/a
40	CTCF	chrY:20987080-20987175	GM10248	blood:	n/a	n/a
41	CTCF	chrY:20978754-20978773	GM10248	blood:	n/a	n/a
42	CTCF	chrY:20831478-20831993	GM10266	blood:	n/a	n/a
43	CTCF	chrY:20885409-20885432	LNCaP	prostate:	n/a	n/a
44	CTCF	chrY:20831800-20831950	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chrY:20873679-20873929	GM10248	blood:	n/a	n/a
46	CTCF	chrY:20881392-20881428	GM12891	blood:	n/a	n/a
47	CTCF	chrY:20952363-20952526	GM19239	blood:	n/a	n/a
48	CTCF	chrY:20794642-20794712	GM10248	blood:	n/a	n/a
49	CTCF	chrY:20999694-20999736	LNCaP	prostate:	n/a	n/a
50	CTCF	chrY:20831800-20831950	GM12864	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:20748782-20748832	Caco-2	colon:	n/a
2	chrY:20748782-20748832	AG09309	skin:	n/a
3	chrY:20736147-20736197	Hepatocyte	liver:	n/a
4	chrY:20748782-20748832	CMK	blood:	n/a
5	chrY:20736147-20736197	SAEC	small airway:	n/a
6	chrY:20736147-20736197	HMEC	breast:	n/a
7	chrY:20736147-20736197	HEEpiC	esophagus:	n/a
8	chrY:20736147-20736197	HCT-116	colon:	n/a
9	chrY:20748782-20748832	HCM	heart:	n/a
10	chrY:20748782-20748832	HUVEC	blood vessel:	n/a
11	chrY:20748782-20748832	AG04450	lung:	fetal
12	chrY:20748782-20748832	HPAEpiC	pulmonary alveolar:	n/a
13	chrY:20748782-20748832	K562	blood:	n/a
14	chrY:20748782-20748832	NH-A	brain:	n/a
15	chrY:20748782-20748832	MCF10A-Er-Src	breast:	n/a
16	chrY:20748782-20748832	A549	lung:	n/a
17	chrY:20748782-20748832	HepG2	liver:	n/a
18	chrY:20748782-20748832	AG09319	gingival:	n/a
19	chrY:20748782-20748832	HEK293	kidney:	embryo
20	chrY:20736147-20736197	CMK	blood:	n/a
21	chrY:20748782-20748832	GM12891	blood:	n/a
22	chrY:20748782-20748832	HCT-116	colon:	n/a
23	chrY:20736147-20736197	HCPEpiC	choroid plexus:	n/a
24	chrY:20736147-20736197	AG10803	skin:	n/a
25	chrY:20736147-20736197	HAEpiC	amniotic membrane:	n/a
26	chrY:20736147-20736197	AG04450	lung:	fetal
27	chrY:20748782-20748832	GM12892	blood:	n/a
28	chrY:20736147-20736197	PFSK-1	brain:	n/a
29	chrY:20736147-20736197	MCF-7	breast:	n/a
30	chrY:20736147-20736197	T-47D	breast:	n/a
31	chrY:20748782-20748832	HCF	heart:	n/a
32	chrY:20748782-20748832	HRCEpiC	kidney:	n/a
33	chrY:20748782-20748832	NHDF-neo	bronchial:	n/a
34	chrY:20736147-20736197	K562	blood:	n/a
35	chrY:20736147-20736197	PrEC	prostate:	n/a
36	chrY:20748782-20748832	SK-N-SH	brain:	n/a
37	chrY:20736147-20736197	ProgFib	skin:	n/a
38	chrY:20748782-20748832	SK-N-SH_RA	brain:	n/a
39	chrY:20736147-20736197	NHBE	bronchial:	n/a
40	chrY:20748782-20748832	HEEpiC	esophagus:	n/a
41	chrY:20748782-20748832	GM06990	blood:	n/a
42	chrY:20736147-20736197	HRPEpiC	eye:	n/a
43	chrY:20748782-20748832	T-47D	breast:	n/a
44	chrY:20748782-20748832	RPTEC	kidney:	n/a
45	chrY:20748782-20748832	AG10803	skin:	n/a
46	chrY:20736147-20736197	Caco-2	colon:	n/a
47	chrY:20736147-20736197	RPTEC	kidney:	n/a
48	chrY:20736147-20736197	HUVEC	blood vessel:	n/a
49	chrY:20736147-20736197	HepG2	liver:	n/a
50	chrY:20736147-20736197	PANC-1	pancreas:	n/a

No data

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

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

No data

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