Variant report

Variant	nsv870093
Chromosome Location	chrY:7286569-7512591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:294)
CpG islands
(count:247)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrY:7336199-7336482	HepG2	liver:	n/a	chrY:7336329-7336340
2	CEBPB	chrY:7307394-7307469	HepG2	liver:	n/a	chrY:7307413-7307424
3	CTCF	chrY:7478403-7478464	LNCaP	prostate:	n/a	n/a
4	CTCF	chrY:7425860-7426010	AG04449	skin:	n/a	n/a
5	CTCF	chrY:7425840-7425990	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chrY:7425860-7426010	GM12871	blood:	n/a	n/a
7	CTCF	chrY:7483192-7483296	GM20000	blood:	n/a	n/a
8	CTCF	chrY:7422119-7422233	Medullo	brain:	n/a	n/a
9	CTCF	chrY:7425840-7425990	BJ	skin:	n/a	n/a
10	CTCF	chrY:7425780-7425990	HVMF	connective:	n/a	n/a
11	CTCF	chrY:7470355-7470408	GM20000	blood:	n/a	n/a
12	CTCF	chrY:7425840-7425990	AG10803	skin:	n/a	n/a
13	CTCF	chrY:7413742-7413793	GM20000	blood:	n/a	n/a
14	CTCF	chrY:7425782-7426026	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chrY:7482898-7483018	GM20000	blood:	n/a	n/a
16	CTCF	chrY:7425824-7426033	LNCaP	prostate:	n/a	n/a
17	CTCF	chrY:7340020-7340170	RPTEC	kidney:	n/a	n/a
18	CTCF	chrY:7425580-7425730	AG04450	lung:	n/a	n/a
19	CTCF	chrY:7317625-7317715	GM10248	blood:	n/a	n/a
20	CTCF	chrY:7395560-7395710	AG10803	skin:	n/a	n/a
21	CTCF	chrY:7466177-7466286	Medullo	brain:	n/a	n/a
22	CTCF	chrY:7395520-7395670	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chrY:7392283-7392354	GM10248	blood:	n/a	n/a
24	CTCF	chrY:7336926-7336978	GM10248	blood:	n/a	n/a
25	CTCF	chrY:7326580-7326730	AG10803	skin:	n/a	n/a
26	CTCF	chrY:7340083-7340312	HepG2	liver:	n/a	n/a
27	CTCF	chrY:7425980-7426130	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chrY:7426174-7426235	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chrY:7359204-7359283	LNCaP	prostate:	n/a	n/a
30	CTCF	chrY:7469279-7469385	GM10266	blood:	n/a	n/a
31	CTCF	chrY:7340079-7340309	A549	lung:	n/a	n/a
32	CTCF	chrY:7331126-7331200	GM20000	blood:	n/a	n/a
33	CTCF	chrY:7340123-7340125	GM10248	blood:	n/a	n/a
34	CTCF	chrY:7470895-7470948	Medullo	brain:	n/a	n/a
35	CTCF	chrY:7425840-7425990	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chrY:7340138-7340296	LNCaP	prostate:	n/a	n/a
37	CTCF	chrY:7425795-7426007	HepG2	liver:	n/a	n/a
38	CTCF	chrY:7400588-7400656	HepG2	liver:	n/a	n/a
39	CTCF	chrY:7425840-7425990	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chrY:7296378-7296468	GM10248	blood:	n/a	n/a
41	CTCF	chrY:7426060-7426210	GM12871	blood:	n/a	n/a
42	CTCF	chrY:7328107-7328148	GM19239	blood:	n/a	n/a
43	CTCF	chrY:7340020-7340170	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chrY:7368154-7368264	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chrY:7483294-7483300	GM10248	blood:	n/a	n/a
46	CTCF	chrY:7425820-7425970	GM12871	blood:	n/a	n/a
47	CTCF	chrY:7333106-7333190	ProgFib	skin:	n/a	n/a
48	CTCF	chrY:7370208-7370277	GM20000	blood:	n/a	n/a
49	CTCF	chrY:7428371-7428387	LNCaP	prostate:	n/a	n/a
50	CTCF	chrY:7454004-7454156	Medullo	brain:	n/a	n/a

(count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:7429349-7429399	NB4	blood:	n/a
2	chrY:7426653-7426703	HPAEpiC	pulmonary alveolar:	n/a
3	chrY:7429349-7429399	AoSMC	blood vessel:	n/a
4	chrY:7429349-7429399	NB4	blood:	n/a
5	chrY:7426653-7426703	HPAEpiC	pulmonary alveolar:	n/a
6	chrY:7429349-7429399	AoSMC	blood vessel:	n/a
7	chrY:7431190-7431240	AG04450	lung:	fetal
8	chrY:7431190-7431240	PrEC	prostate:	n/a
9	chrY:7426653-7426703	LNCaP	prostate:	n/a
10	chrY:7429349-7429399	SAEC	small airway:	n/a
11	chrY:7428198-7428248	AG10803	skin:	n/a
12	chrY:7428198-7428248	NHBE	bronchial:	n/a
13	chrY:7428198-7428248	AG04449	skin:	fetal
14	chrY:7429349-7429399	Jurkat	blood:	n/a
15	chrY:7428198-7428248	HUVEC	blood vessel:	n/a
16	chrY:7431190-7431240	HepG2	liver:	n/a
17	chrY:7426653-7426703	A549	lung:	n/a
18	chrY:7428198-7428248	SK-N-SH_RA	brain:	n/a
19	chrY:7428198-7428248	K562	blood:	n/a
20	chrY:7428198-7428248	ProgFib	skin:	n/a
21	chrY:7429349-7429399	HRPEpiC	eye:	n/a
22	chrY:7431190-7431240	Hela-S3	cervix:	n/a
23	chrY:7426653-7426703	H1-hESC	embryonic stem cell:	embryo
24	chrY:7431190-7431240	NB4	blood:	n/a
25	chrY:7426653-7426703	PFSK-1	brain:	n/a
26	chrY:7431190-7431240	Hepatocyte	liver:	n/a
27	chrY:7431190-7431240	MCF-7	breast:	n/a
28	chrY:7426653-7426703	Hepatocyte	liver:	n/a
29	chrY:7426653-7426703	SK-N-SH	brain:	n/a
30	chrY:7428198-7428248	GM12878	blood:	n/a
31	chrY:7428198-7428248	HAEpiC	amniotic membrane:	n/a
32	chrY:7429349-7429399	BE2_C	brain:	n/a
33	chrY:7429349-7429399	IMR90	lung:	fetal
34	chrY:7428198-7428248	SAEC	small airway:	n/a
35	chrY:7428198-7428248	H1-hESC	embryonic stem cell:	embryo
36	chrY:7429349-7429399	NHDF-neo	bronchial:	n/a
37	chrY:7426653-7426703	HepG2	liver:	n/a
38	chrY:7431190-7431240	Caco-2	colon:	n/a
39	chrY:7429349-7429399	GM06990	blood:	n/a
40	chrY:7426653-7426703	SAEC	small airway:	n/a
41	chrY:7429349-7429399	HepG2	liver:	n/a
42	chrY:7431190-7431240	AoSMC	blood vessel:	n/a
43	chrY:7431190-7431240	AG10803	skin:	n/a
44	chrY:7431190-7431240	HRE	kidney:	n/a
45	chrY:7426653-7426703	GM06990	blood:	n/a
46	chrY:7428198-7428248	HCT-116	colon:	n/a
47	chrY:7431190-7431240	SAEC	small airway:	n/a
48	chrY:7428198-7428248	PrEC	prostate:	n/a
49	chrY:7426653-7426703	AoSMC	blood vessel:	n/a
50	chrY:7426653-7426703	U87	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBL1Y-1	chrY:7302524-7302618	XLOC_008282
2	lnc-TBL1Y-1	chrY:7388121-7388562	XLOC_008282
3	lnc-TBL1Y-1	chrY:7386981-7387089	XLOC_008282

No data

Variant related genes	Relation type
RNU6-521P	TF binding region
RNU6-521P	CpG island

Extended variants
information (count: 519 )
Associated
traits (count: 28 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573541057	chrY:7286862-7286863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55711352	chrY:7287206-7287207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542420290	chrY:7287464-7287465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557227114	chrY:7287974-7287975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72618707	chrY:7288120-7288121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370702994	chrY:7288131-7288132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375135629	chrY:7288479-7288480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9785781	chrY:7289276-7289277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372552921	chrY:7289425-7289426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74800797	chrY:7289772-7289773	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373593690	chrY:7289780-7289781	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375176861	chrY:7289788-7289789	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369141040	chrY:7289792-7289793	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367988033	chrY:7290454-7290455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77870319	chrY:7291095-7291096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62608396	chrY:7291098-7291099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13303494	chrY:7291260-7291261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3899	chrY:7291534-7291535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34399209	chrY:7292225-7292226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35985939	chrY:7292602-7292603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17316547	chrY:7292720-7292721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369686051	chrY:7292776-7292777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371712477	chrY:7292931-7292932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60498946	chrY:7293154-7293155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13305580	chrY:7294236-7294237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372550954	chrY:7294304-7294305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376737696	chrY:7294536-7294537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368978072	chrY:7294667-7294668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201441095	chrY:7294776-7294777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199755299	chrY:7294785-7294786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79242608	chrY:7294864-7294865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111370578	chrY:7294871-7294872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111843875	chrY:7294973-7294974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112558655	chrY:7295019-7295020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111944702	chrY:7295040-7295041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112653785	chrY:7295046-7295047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373227190	chrY:7295403-7295404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544952950	chrY:7295566-7295567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564764314	chrY:7295603-7295604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377751428	chrY:7296343-7296344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs531216923	chrY:7296419-7296420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs55984024	chrY:7301947-7301948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373546731	chrY:7302123-7302124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550417415	chrY:7302697-7302698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199498759	chrY:7303056-7303057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374107304	chrY:7303231-7303232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375958095	chrY:7303369-7303370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567226245	chrY:7303884-7303885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536010701	chrY:7303900-7303901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370227422	chrY:7303919-7303920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:28)

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
Sertoli-cell only syndrome	20877625	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:7285200-7289600	Weak transcription	HSMM	muscle
2	chrY:7286000-7287200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chrY:7286400-7287200	Enhancers	HSMMtube	muscle
4	chrY:7287200-7287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chrY:7287800-7288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chrY:7288000-7296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chrY:7289600-7289800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chrY:7289600-7290000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chrY:7289600-7290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chrY:7289800-7290000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
11	chrY:7296200-7296600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chrY:7301800-7302800	Enhancers	HUVEC	blood vessel
13	chrY:7302000-7302800	Enhancers	NH-A	brain
14	chrY:7302400-7303400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chrY:7302600-7303200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chrY:7303200-7317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chrY:7303400-7303800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chrY:7303800-7304400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chrY:7304400-7304800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chrY:7304800-7305200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chrY:7304800-7305200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chrY:7305200-7308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chrY:7308200-7308400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chrY:7308400-7308800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrY:7308800-7309000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chrY:7308800-7309200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chrY:7309000-7314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chrY:7314600-7315000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrY:7314800-7315000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrY:7315000-7315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chrY:7315000-7315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chrY:7315400-7316000	Enhancers	HSMM	muscle
33	chrY:7315400-7317600	Enhancers	HSMMtube	muscle
34	chrY:7315600-7315800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chrY:7315600-7317000	Enhancers	NH-A	brain
36	chrY:7315600-7319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chrY:7315800-7316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chrY:7315800-7317800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chrY:7316000-7316800	Weak transcription	HSMM	muscle
40	chrY:7316800-7317600	Enhancers	HSMM	muscle
41	chrY:7316800-7317800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chrY:7317000-7317400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chrY:7317400-7326400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chrY:7317600-7323600	Weak transcription	HSMMtube	muscle
45	chrY:7319000-7325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chrY:7320400-7320600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chrY:7320600-7322400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chrY:7320800-7321000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chrY:7320800-7321400	Enhancers	Primary B cells from peripheral blood	blood
50	chrY:7321000-7321200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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