Variant report

Variant	nsv469743
Chromosome Location	chrY:6051739-6202072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:374)
CpG islands
(count:916)
Chromatin interactive
region (count:0)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrY:6058968-6059213	HepG2	liver:	n/a	chrY:6059042-6059053
2	CTCF	chrY:6186919-6187017	GM10266	blood:	n/a	n/a
3	CTCF	chrY:6171310-6171365	GM10266	blood:	n/a	n/a
4	CTCF	chrY:6175452-6175556	GM10248	blood:	n/a	n/a
5	CTCF	chrY:6174260-6174274	GM10266	blood:	n/a	n/a
6	CTCF	chrY:6185775-6185838	LNCaP	prostate:	n/a	n/a
7	CTCF	chrY:6196051-6196160	GM20000	blood:	n/a	n/a
8	CTCF	chrY:6136325-6136379	Medullo	brain:	n/a	n/a
9	CTCF	chrY:6155366-6155455	GM10248	blood:	n/a	n/a
10	CTCF	chrY:6079552-6079701	GM10266	blood:	n/a	n/a
11	CTCF	chrY:6180026-6180079	GM10248	blood:	n/a	n/a
12	CTCF	chrY:6082225-6082291	Medullo	brain:	n/a	n/a
13	CTCF	chrY:6126526-6126558	Medullo	brain:	n/a	n/a
14	CTCF	chrY:6184459-6184591	GM10266	blood:	n/a	n/a
15	CTCF	chrY:6071732-6071824	HepG2	liver:	n/a	n/a
16	CTCF	chrY:6071703-6071776	GM10266	blood:	n/a	n/a
17	CTCF	chrY:6192044-6192088	GM10248	blood:	n/a	n/a
18	CTCF	chrY:6086395-6086505	GM10248	blood:	n/a	n/a
19	CTCF	chrY:6169340-6169431	GM20000	blood:	n/a	n/a
20	CTCF	chrY:6194567-6194662	GM10248	blood:	n/a	n/a
21	CTCF	chrY:6069377-6069486	Medullo	brain:	n/a	n/a
22	CTCF	chrY:6104603-6104657	GM10266	blood:	n/a	n/a
23	CTCF	chrY:6195710-6195887	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chrY:6144034-6144088	ProgFib	skin:	n/a	n/a
25	CTCF	chrY:6195753-6195912	GM10248	blood:	n/a	n/a
26	CTCF	chrY:6140121-6140236	GM20000	blood:	n/a	n/a
27	CTCF	chrY:6162712-6162817	A549	lung:	n/a	n/a
28	CTCF	chrY:6078217-6078252	GM10248	blood:	n/a	n/a
29	CTCF	chrY:6139483-6139576	LNCaP	prostate:	n/a	n/a
30	CTCF	chrY:6100887-6100971	Medullo	brain:	n/a	n/a
31	CTCF	chrY:6169796-6169818	GM10266	blood:	n/a	n/a
32	CTCF	chrY:6149228-6149289	ProgFib	skin:	n/a	n/a
33	CTCF	chrY:6139245-6139330	GM20000	blood:	n/a	n/a
34	CTCF	chrY:6152922-6152928	Medullo	brain:	n/a	n/a
35	CTCF	chrY:6181990-6182061	GM10248	blood:	n/a	n/a
36	CTCF	chrY:6198527-6198598	GM10248	blood:	n/a	n/a
37	CTCF	chrY:6103888-6103932	ProgFib	skin:	n/a	n/a
38	CTCF	chrY:6061643-6061815	LNCaP	prostate:	n/a	n/a
39	CTCF	chrY:6108725-6108834	GM10266	blood:	n/a	n/a
40	CTCF	chrY:6092001-6092052	LNCaP	prostate:	n/a	n/a
41	CTCF	chrY:6071944-6072018	GM10266	blood:	n/a	n/a
42	CTCF	chrY:6105105-6105130	GM10248	blood:	n/a	n/a
43	CTCF	chrY:6185267-6185386	GM10248	blood:	n/a	n/a
44	CTCF	chrY:6195686-6195931	LNCaP	prostate:	n/a	n/a
45	CTCF	chrY:6072974-6073045	GM10248	blood:	n/a	n/a
46	CTCF	chrY:6195551-6195687	GM10248	blood:	n/a	n/a
47	CTCF	chrY:6136629-6136670	GM10248	blood:	n/a	n/a
48	CTCF	chrY:6195759-6195827	HepG2	liver:	n/a	n/a
49	CTCF	chrY:6073947-6073962	Medullo	brain:	n/a	n/a
50	CTCF	chrY:6092850-6092880	GM10248	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:6113261-6113311	BJ	skin:	n/a
2	chrY:6113261-6113311	BJ	skin:	n/a
3	chrY:6133838-6133888	AG04449	skin:	fetal
4	chrY:6136711-6136761	SKMC	muscle:	n/a
5	chrY:6117321-6117371	T-47D	breast:	n/a
6	chrY:6134650-6134700	HEEpiC	esophagus:	n/a
7	chrY:6114404-6114454	PANC-1	pancreas:	n/a
8	chrY:6117321-6117371	H1-hESC	embryonic stem cell:	embryo
9	chrY:6172783-6172833	K562	blood:	n/a
10	chrY:6114255-6114305	AG09319	gingival:	n/a
11	chrY:6131963-6132013	Caco-2	colon:	n/a
12	chrY:6113261-6113311	GM12878	blood:	n/a
13	chrY:6133740-6133790	U87	brain:	n/a
14	chrY:6113261-6113311	AG09309	skin:	n/a
15	chrY:6114255-6114305	NHBE	bronchial:	n/a
16	chrY:6131007-6131057	HRE	kidney:	n/a
17	chrY:6133740-6133790	NHDF-neo	bronchial:	n/a
18	chrY:6114379-6114429	MCF-7	breast:	n/a
19	chrY:6136711-6136761	GM12891	blood:	n/a
20	chrY:6117321-6117371	GM12891	blood:	n/a
21	chrY:6172428-6172478	HPAEpiC	pulmonary alveolar:	n/a
22	chrY:6173766-6173816	HUVEC	blood vessel:	n/a
23	chrY:6113261-6113311	AoSMC	blood vessel:	n/a
24	chrY:6134650-6134700	HRCEpiC	kidney:	n/a
25	chrY:6173766-6173816	HNPCEpiC	eye:	n/a
26	chrY:6134650-6134700	HRPEpiC	eye:	n/a
27	chrY:6117321-6117371	GM12878	blood:	n/a
28	chrY:6136711-6136761	AG10803	skin:	n/a
29	chrY:6134650-6134700	GM12878	blood:	n/a
30	chrY:6133740-6133790	Caco-2	colon:	n/a
31	chrY:6134650-6134700	HPAEpiC	pulmonary alveolar:	n/a
32	chrY:6117321-6117371	AG09319	gingival:	n/a
33	chrY:6114379-6114429	HEK293	kidney:	embryo
34	chrY:6172428-6172478	HEK293	kidney:	embryo
35	chrY:6117321-6117371	NB4	blood:	n/a
36	chrY:6114404-6114454	Hepatocyte	liver:	n/a
37	chrY:6136711-6136761	AoSMC	blood vessel:	n/a
38	chrY:6173766-6173816	AG04450	lung:	fetal
39	chrY:6113261-6113311	HEEpiC	esophagus:	n/a
40	chrY:6114379-6114429	Caco-2	colon:	n/a
41	chrY:6133740-6133790	T-47D	breast:	n/a
42	chrY:6131007-6131057	MCF10A-Er-Src	breast:	n/a
43	chrY:6137453-6137503	IMR90	lung:	fetal
44	chrY:6134650-6134700	NHDF-neo	bronchial:	n/a
45	chrY:6114404-6114454	AG04450	lung:	fetal
46	chrY:6172428-6172478	T-47D	breast:	n/a
47	chrY:6114379-6114429	PrEC	prostate:	n/a
48	chrY:6133740-6133790	GM12878	blood:	n/a
49	chrY:6133838-6133888	SAEC	small airway:	n/a
50	chrY:6131007-6131057	BE2_C	brain:	n/a

No data

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMELY-6	chrY:6110487-6110795	ENSG00000237069.2
2	lnc-AMELY-6	chrY:6111568-6111670	NONHSAT139331
3	lnc-AMELY-5	chrY:6129985-6130070	ENSG00000234830.2
4	lnc-AMELY-6	chrY:6111595-6111651	ENSG00000237069.2
5	lnc-AMELY-6	chrY:6111336-6111481	NONHSAT139331
6	lnc-AMELY-5	chrY:6124308-6126433	ENSG00000234830.2
7	lnc-AMELY-6	chrY:6111336-6111481	ENSG00000237069.2
8	lnc-AMELY-5	chrY:6131875-6131994	ENSG00000234830.2
9	lnc-AMELY-4	chrY:6183334-6183506	XLOC_008311
10	lnc-AMELY-4	chrY:6182796-6182835	XLOC_008311
11	lnc-AMELY-4	chrY:6184086-6184282	XLOC_008311
12	lnc-AMELY-6	chrY:6109809-6109902	NONHSAT139331

No data

Variant related genes	Relation type
ENSG00000251275	TF binding region
TTTY23B	TF binding region
ENSG00000242879	TF binding region
TSPY19P	TF binding region
ENSG00000235094	TF binding region
RBMY2GP	TF binding region
FAM197Y9	TF binding region
TSPY2	TF binding region
ENSG00000250204	TF binding region
TSPY11P	TF binding region
ENSG00000251275	CpG island
TTTY23B	CpG island
ENSG00000242879	CpG island
TSPY19P	CpG island
ENSG00000235094	CpG island
RBMY2GP	CpG island
FAM197Y9	CpG island
TSPY2	CpG island
ENSG00000250204	CpG island
TSPY11P	CpG island
MAPRE3	miRNA target sites
NR3C1	miRNA target sites
SMCR8	miRNA target sites

Extended variants
information (count: 102 )
Associated
traits (count: 29 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4028014	chrY:6073132-6073133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4028015	chrY:6073168-6073169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2558229	chrY:6073227-6073228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4028017	chrY:6073287-6073288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2558230	chrY:6073341-6073342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4028019	chrY:6073345-6073346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2558256	chrY:6078126-6078127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201446820	chrY:6078134-6078135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2767792	chrY:6078156-6078157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2558257	chrY:6078238-6078239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2558258	chrY:6078461-6078462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111969272	chrY:6078471-6078472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2558259	chrY:6078540-6078541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2433974	chrY:6078616-6078617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2433975	chrY:6078652-6078653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71302859	chrY:6078691-6078692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368169471	chrY:6078844-6078845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73612995	chrY:6078994-6078995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370394248	chrY:6079114-6079115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs207480849	chrY:6079143-6079144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113028861	chrY:6079604-6079605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397833784	chrY:6079967-6079968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397833785	chrY:6080041-6080042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2558265	chrY:6080042-6080043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs207480850	chrY:6080828-6080829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207480851	chrY:6080960-6080961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs207480852	chrY:6081025-6081026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs207480853	chrY:6081256-6081257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2558266	chrY:6081368-6081369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2558267	chrY:6081371-6081372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2767795	chrY:6081426-6081427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2767796	chrY:6081483-6081484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372535837	chrY:6081496-6081497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs207480854	chrY:6081571-6081572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs207480855	chrY:6081704-6081705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2558268	chrY:6081803-6081804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2433977	chrY:6081834-6081835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2433978	chrY:6081884-6081885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2433979	chrY:6081930-6081931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2558269	chrY:6082075-6082076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2558270	chrY:6082084-6082085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2767798	chrY:6082128-6082129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2790006	chrY:6082283-6082284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2792322	chrY:6082289-6082290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55752965	chrY:6082610-6082611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2099005	chrY:6082905-6082906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199817570	chrY:6082913-6082914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2081778	chrY:6082930-6082931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2081779	chrY:6082933-6082934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2558273	chrY:6082979-6082980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:29)

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
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:6073000-6073400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrY:6078000-6078400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chrY:6078400-6083400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chrY:6083400-6083600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chrY:6083400-6085200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chrY:6083600-6084000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chrY:6084000-6085000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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