Variant report

Variant	nsv917092
Chromosome Location	chrY:6390454-7324376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1856)
CpG islands
(count:1589)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrY:7283222-7283831	HepG2	liver:	n/a	n/a
2	ARID3A	chrY:7178561-7179180	HepG2	liver:	n/a	n/a
3	ARID3A	chrY:7148440-7148693	HepG2	liver:	n/a	n/a
4	ARID3A	chrY:7212816-7213029	HepG2	liver:	n/a	n/a
5	ARID3A	chrY:6865310-6866070	HepG2	liver:	n/a	n/a
6	ARID3A	chrY:6832811-6833136	HepG2	liver:	n/a	n/a
7	ARID3A	chrY:6948560-6948883	HepG2	liver:	n/a	n/a
8	ARID3A	chrY:6777263-6777630	HepG2	liver:	n/a	n/a
9	BHLHE40	chrY:6948705-6948896	HepG2	liver:	n/a	n/a
10	BHLHE40	chrY:6777134-6777549	HepG2	liver:	n/a	n/a
11	BHLHE40	chrY:7148439-7148725	HepG2	liver:	n/a	n/a
12	BHLHE40	chrY:7141646-7142206	HepG2	liver:	n/a	n/a
13	BHLHE40	chrY:7178965-7179163	HepG2	liver:	n/a	n/a
14	CEBPB	chrY:7178945-7179206	HepG2	liver:	n/a	chrY:7179096-7179107
15	CEBPB	chrY:7249319-7249647	HepG2	liver:	n/a	chrY:7249464-7249475
16	CEBPB	chrY:7195929-7196258	A549	lung:	n/a	n/a
17	CEBPB	chrY:7205041-7205368	HepG2	liver:	n/a	chrY:7205200-7205211
18	CEBPB	chrY:6777309-6777491	HepG2	liver:	n/a	chrY:6777391-6777402
19	CEBPB	chrY:6966148-6966556	HepG2	liver:	n/a	n/a
20	CEBPB	chrY:7158054-7158254	A549	lung:	n/a	n/a
21	CEBPB	chrY:7249297-7249655	A549	lung:	n/a	chrY:7249464-7249475
22	CEBPB	chrY:7283111-7283803	HepG2	liver:	n/a	chrY:7283571-7283582
23	CEBPB	chrY:6936886-6937140	HepG2	liver:	n/a	n/a
24	CEBPB	chrY:7283346-7283704	HepG2	liver:	n/a	chrY:7283571-7283582
25	CEBPB	chrY:6966132-6966563	A549	lung:	n/a	n/a
26	CEBPB	chrY:7283399-7283657	HepG2	liver:	n/a	chrY:7283571-7283582
27	CEBPB	chrY:6957059-6957432	A549	lung:	n/a	chrY:6957271-6957282
28	CEBPB	chrY:7178646-7179268	HepG2	liver:	n/a	chrY:7179096-7179107
29	CEBPB	chrY:6878801-6879092	HepG2	liver:	n/a	chrY:6878920-6878931
30	CEBPB	chrY:7307394-7307469	HepG2	liver:	n/a	chrY:7307413-7307424
31	CEBPB	chrY:6786790-6787171	HepG2	liver:	n/a	chrY:6786975-6786986
32	CEBPB	chrY:6781439-6782061	HepG2	liver:	n/a	n/a
33	CEBPB	chrY:6805028-6805261	A549	lung:	n/a	n/a
34	CEBPB	chrY:7255133-7255196	HepG2	liver:	n/a	n/a
35	CEBPB	chrY:7079776-7080052	A549	lung:	n/a	chrY:7079892-7079903
36	CEBPB	chrY:7205137-7205337	A549	lung:	n/a	chrY:7205200-7205211
37	CEBPB	chrY:7079735-7080086	HepG2	liver:	n/a	chrY:7079892-7079903
38	CEBPB	chrY:7021120-7021349	HepG2	liver:	n/a	chrY:7021229-7021240
39	CEBPB	chrY:6786798-6787163	A549	lung:	n/a	chrY:6786975-6786986
40	CEBPB	chrY:7141009-7141265	A549	lung:	n/a	n/a
41	CEBPB	chrY:6539573-6539861	HepG2	liver:	n/a	chrY:6539684-6539695
42	CEBPB	chrY:6777202-6777647	HepG2	liver:	n/a	chrY:6777391-6777402
43	CEBPB	chrY:6967777-6968078	A549	lung:	n/a	n/a
44	CEBPB	chrY:6957092-6957453	HepG2	liver:	n/a	chrY:6957271-6957282
45	CEBPB	chrY:6786870-6787063	A549	lung:	n/a	chrY:6786975-6786986
46	CEBPD	chrY:7283422-7283655	HepG2	liver:	n/a	n/a
47	CREB1	chrY:7141772-7142084	A549	lung:	n/a	n/a
48	CREB1	chrY:7140601-7140826	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chrY:6778441-6778860	HepG2	liver:	n/a	n/a
50	CTCF	chrY:6569670-6569848	HepG2	liver:	n/a	n/a

(count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:6783873-6783923	SKMC	muscle:	n/a
2	chrY:6778939-6778989	NHDF-neo	bronchial:	n/a
3	chrY:6778695-6778745	MCF-7	breast:	n/a
4	chrY:6783873-6783923	SKMC	muscle:	n/a
5	chrY:6778939-6778989	NHDF-neo	bronchial:	n/a
6	chrY:6778695-6778745	MCF-7	breast:	n/a
7	chrY:6742689-6742739	HEEpiC	esophagus:	n/a
8	chrY:7146170-7146220	T-47D	breast:	n/a
9	chrY:7177888-7177938	NHDF-neo	bronchial:	n/a
10	chrY:7140572-7140622	LNCaP	prostate:	n/a
11	chrY:6778543-6778593	GM12878	blood:	n/a
12	chrY:7140572-7140622	PFSK-1	brain:	n/a
13	chrY:6738929-6738979	NHDF-neo	bronchial:	n/a
14	chrY:7141818-7141868	HAEpiC	amniotic membrane:	n/a
15	chrY:6783873-6783923	HEEpiC	esophagus:	n/a
16	chrY:6781164-6781214	HPAEpiC	pulmonary alveolar:	n/a
17	chrY:7177888-7177938	GM06990	blood:	n/a
18	chrY:6778623-6778673	HUVEC	blood vessel:	n/a
19	chrY:6778543-6778593	SAEC	small airway:	n/a
20	chrY:6891543-6891593	GM19239	blood:	n/a
21	chrY:6742726-6742776	SK-N-SH_RA	brain:	n/a
22	chrY:6781164-6781214	ECC-1	luminal epithelium:	n/a
23	chrY:7141248-7141298	HRPEpiC	eye:	n/a
24	chrY:6778939-6778989	HCF	heart:	n/a
25	chrY:6780027-6780077	K562	blood:	n/a
26	chrY:7138198-7138248	HRE	kidney:	n/a
27	chrY:7138198-7138248	SKMC	muscle:	n/a
28	chrY:7140572-7140622	CMK	blood:	n/a
29	chrY:6738929-6738979	BJ	skin:	n/a
30	chrY:6738929-6738979	T-47D	breast:	n/a
31	chrY:6954228-6954278	AG10803	skin:	n/a
32	chrY:7142046-7142096	ECC-1	luminal epithelium:	n/a
33	chrY:6738929-6738979	ovcar-3	ovarian:	n/a
34	chrY:6891543-6891593	BJ	skin:	n/a
35	chrY:7138198-7138248	K562	blood:	n/a
36	chrY:7140718-7140768	NB4	blood:	n/a
37	chrY:6742726-6742776	GM19239	blood:	n/a
38	chrY:6778623-6778673	SK-N-MC	brain:	n/a
39	chrY:6783873-6783923	SK-N-SH_RA	brain:	n/a
40	chrY:6775803-6775853	SK-N-SH	brain:	n/a
41	chrY:7141681-7141731	RPTEC	kidney:	n/a
42	chrY:6780027-6780077	HRCEpiC	kidney:	n/a
43	chrY:7141681-7141731	SKMC	muscle:	n/a
44	chrY:7141818-7141868	T-47D	breast:	n/a
45	chrY:7141681-7141731	HCM	heart:	n/a
46	chrY:7142073-7142123	T-47D	breast:	n/a
47	chrY:7177888-7177938	HepG2	liver:	n/a
48	chrY:6778623-6778673	HL-60	blood:	n/a
49	chrY:6775803-6775853	HUVEC	blood vessel:	n/a
50	chrY:7141681-7141731	HCT-116	colon:	n/a

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBL1Y-5	chrY:6705748-6706293	NONHSAT139349
2	lnc-AMELY-9	chrY:6587003-6587221	NONHSAT139347
3	lnc-TBL1Y-4	chrY:6769188-6769413	NONHSAT139350
4	lnc-TBL1Y-4	chrY:6768794-6768889	NONHSAT139350
5	lnc-AMELY-12	chrY:7192338-7192636	NONHSAT139353
6	lnc-TBL1Y-1	chrY:7302524-7302618	XLOC_008282
7	lnc-TSPY2-6	chrY:6786723-6788832	NONHSAT139351

No data

Variant related genes	Relation type
PRKY	TF binding region
RNU6-941P	TF binding region
SRIP3	TF binding region
GOT2P5	TF binding region
RN7SKP282	TF binding region
TBL1Y	TF binding region
AMELY	TF binding region
GPR143P	TF binding region
RNU6-521P	TF binding region
ENSG00000251996	TF binding region
ATP5JP1	TF binding region
PRKY	CpG island
RNU6-941P	CpG island
SRIP3	CpG island
GOT2P5	CpG island
RN7SKP282	CpG island
TBL1Y	CpG island
AMELY	CpG island
GPR143P	CpG island
RNU6-521P	CpG island
ENSG00000251996	CpG island
ATP5JP1	CpG island

Extended variants
information (count: 1799 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:1799 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111476062	chrY:6401645-6401646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367593392	chrY:6401698-6401699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371357876	chrY:6401704-6401705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs374445160	chrY:6401717-6401718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs368047596	chrY:6401721-6401722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs371750396	chrY:6401735-6401736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370327943	chrY:6401780-6401781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs201669585	chrY:6401802-6401803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs80121701	chrY:6401878-6401879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs112640619	chrY:6401907-6401908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75304015	chrY:6401942-6401943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs79702771	chrY:6401944-6401945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77280508	chrY:6401946-6401947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74651604	chrY:6401950-6401951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75690089	chrY:6401951-6401952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs76655651	chrY:6401964-6401965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74879381	chrY:6401974-6401975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75924592	chrY:6401978-6401979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs80317911	chrY:6401980-6401981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs75740185	chrY:6401981-6401982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs79899546	chrY:6401983-6401984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs74773604	chrY:6401985-6401986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78310200	chrY:6401997-6401998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs78924104	chrY:6402018-6402019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77459752	chrY:6402020-6402021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs370222497	chrY:6402034-6402035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78212638	chrY:6402047-6402048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76994669	chrY:6402075-6402076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78307089	chrY:6402079-6402080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73612996	chrY:6402086-6402087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78530094	chrY:6402090-6402091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs80089109	chrY:6402104-6402105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs74786436	chrY:6402114-6402115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75754953	chrY:6402126-6402127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs77652186	chrY:6402127-6402128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76714645	chrY:6402169-6402170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74683183	chrY:6402219-6402220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs79492998	chrY:6402223-6402224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77190957	chrY:6402246-6402247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs78873130	chrY:6402257-6402258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs76934748	chrY:6402259-6402260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79572410	chrY:6402264-6402265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78065775	chrY:6402277-6402278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs200236625	chrY:6402278-6402279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78975387	chrY:6402282-6402283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77430480	chrY:6402292-6402293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78339204	chrY:6402298-6402299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79804167	chrY:6402307-6402308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74500363	chrY:6402312-6402313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79377150	chrY:6402314-6402315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:30)

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
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:2599 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:6401600-6403400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chrY:6401800-6402400	ZNF genes & repeats	Fetal Lung	lung
3	chrY:6401800-6402400	ZNF genes & repeats	A549	lung
4	chrY:6401800-6402600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrY:6401800-6402600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chrY:6401800-6402800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chrY:6401800-6403600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chrY:6618600-6619000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrY:6619000-6620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrY:6620600-6621000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrY:6625800-6627000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrY:6626400-6626800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chrY:6649800-6650800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chrY:6649800-6651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chrY:6650200-6651600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chrY:6650600-6651400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chrY:6650800-6651200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chrY:6651200-6651400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chrY:6651400-6652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chrY:6652000-6652200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chrY:6652200-6654200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chrY:6652600-6653000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chrY:6652800-6654200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chrY:6654200-6654400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chrY:6654200-6654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chrY:6654400-6654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chrY:6654600-6654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chrY:6654800-6655000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrY:6654800-6655200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrY:6655000-6655200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chrY:6661000-6661400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chrY:6679000-6679400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chrY:6695200-6695600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chrY:6695400-6695800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chrY:6695600-6696000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chrY:6695600-6696600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chrY:6696600-6696800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chrY:6701600-6701800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chrY:6702000-6702800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chrY:6702800-6703200	Enhancers	H1 Cell Line	embryonic stem cell
41	chrY:6702800-6703200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chrY:6710800-6711600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chrY:6711600-6716000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chrY:6714600-6715200	Enhancers	H1 Cell Line	embryonic stem cell
45	chrY:6714600-6715200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chrY:6715200-6715800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chrY:6715800-6716000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chrY:6716000-6716200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chrY:6727200-6727400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrY:6727400-6729000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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