Variant report

Variant	nsv10023
Chromosome Location	chrY:20783788-20860381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

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:20795209-20795247	GM10248	blood:	n/a	n/a
3	CTCF	chrY:20807498-20807525	Medullo	brain:	n/a	n/a
4	CTCF	chrY:20792917-20792987	GM10248	blood:	n/a	n/a
5	CTCF	chrY:20831749-20831951	GM10248	blood:	n/a	n/a
6	CTCF	chrY:20831420-20831570	HPAF	blood vessel:	n/a	n/a
7	CTCF	chrY:20831720-20831870	HFF-Myc	foreskin:	n/a	n/a
8	CTCF	chrY:20851408-20851556	HepG2	liver:	n/a	n/a
9	CTCF	chrY:20831800-20831950	AG04449	skin:	n/a	n/a
10	CTCF	chrY:20831792-20831993	GM12891	blood:	n/a	n/a
11	CTCF	chrY:20851382-20851540	LNCaP	prostate:	n/a	n/a
12	CTCF	chrY:20831733-20831954	LNCaP	prostate:	n/a	n/a
13	CTCF	chrY:20831704-20831989	Medullo	brain:	n/a	n/a
14	CTCF	chrY:20831700-20831850	HCM	heart:	n/a	n/a
15	CTCF	chrY:20831760-20831910	SAEC	small airway:	n/a	n/a
16	CTCF	chrY:20831840-20831990	RPTEC	kidney:	n/a	n/a
17	CTCF	chrY:20831840-20831990	HFF-Myc	foreskin:	n/a	n/a
18	CTCF	chrY:20856235-20856299	LNCaP	prostate:	n/a	n/a
19	CTCF	chrY:20799231-20799293	GM10248	blood:	n/a	n/a
20	CTCF	chrY:20831842-20831927	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chrY:20831520-20831670	GM12870	blood:	n/a	n/a
22	CTCF	chrY:20831760-20831910	HepG2	liver:	n/a	n/a
23	CTCF	chrY:20831740-20831890	HFF	foreskin:	n/a	n/a
24	CTCF	chrY:20814407-20814493	GM20000	blood:	n/a	n/a
25	CTCF	chrY:20847990-20848069	GM10248	blood:	n/a	n/a
26	CTCF	chrY:20831800-20831950	GM12871	blood:	n/a	n/a
27	CTCF	chrY:20793996-20794084	GM10248	blood:	n/a	n/a
28	CTCF	chrY:20831780-20831930	HPAF	blood vessel:	n/a	n/a
29	CTCF	chrY:20831478-20831993	GM10266	blood:	n/a	n/a
30	CTCF	chrY:20794642-20794712	GM10248	blood:	n/a	n/a
31	CTCF	chrY:20795269-20795326	Medullo	brain:	n/a	n/a
32	CTCF	chrY:20831780-20831930	GM12872	blood:	n/a	n/a
33	CTCF	chrY:20831800-20831950	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chrY:20831780-20831930	BJ	skin:	n/a	n/a
35	CTCF	chrY:20831800-20831950	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chrY:20799485-20799574	GM20000	blood:	n/a	n/a
37	CTCF	chrY:20831480-20831630	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chrY:20831720-20831870	NHLF	lung:	n/a	n/a
39	CTCF	chrY:20793661-20793717	ProgFib	skin:	n/a	n/a
40	CTCF	chrY:20831126-20831188	GM20000	blood:	n/a	n/a
41	CTCF	chrY:20831680-20831830	HCM	heart:	n/a	n/a
42	CTCF	chrY:20845872-20845956	GM20000	blood:	n/a	n/a
43	CTCF	chrY:20795811-20795881	GM10248	blood:	n/a	n/a
44	CTCF	chrY:20794031-20794072	GM10266	blood:	n/a	n/a
45	CTCF	chrY:20851442-20851552	GM10266	blood:	n/a	n/a
46	CTCF	chrY:20851456-20851497	GM10248	blood:	n/a	n/a
47	CTCF	chrY:20831578-20831648	GM10248	blood:	n/a	n/a
48	CTCF	chrY:20792628-20792709	A549	lung:	n/a	n/a
49	CTCF	chrY:20856593-20856714	GM10248	blood:	n/a	n/a
50	CTCF	chrY:20831760-20831910	GM12874	blood:	n/a	n/a

No data

Variant related genes	Relation type
OFD1P6Y	TF binding region
TRAPPC2P7	TF binding region
OFD1P5Y	TF binding region
RAB9AP4	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:34 , 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

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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