Variant report

Variant	esv3426923
Chromosome Location	chrY:15765870-15814748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chrY:15814343-15814397	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chrY:15785158-15785243	GM20000	blood:	n/a	n/a
3	CTCF	chrY:15770768-15770814	GM10266	blood:	n/a	n/a
4	CTCF	chrY:15787435-15787491	ProgFib	skin:	n/a	n/a
5	CTCF	chrY:15770819-15770826	GM10266	blood:	n/a	n/a
6	CTCF	chrY:15810954-15810987	GM10248	blood:	n/a	n/a
7	CTCF	chrY:15794620-15794729	LNCaP	prostate:	n/a	n/a
8	CTCF	chrY:15810412-15810441	GM20000	blood:	n/a	n/a
9	CTCF	chrY:15792755-15792764	ProgFib	skin:	n/a	n/a
10	CTCF	chrY:15795369-15795448	GM10266	blood:	n/a	n/a
11	CTCF	chrY:15794153-15794285	GM10248	blood:	n/a	n/a
12	CTCF	chrY:15783711-15783726	LNCaP	prostate:	n/a	n/a
13	CTCF	chrY:15766888-15766951	GM10266	blood:	n/a	n/a
14	CTCF	chrY:15769334-15769452	GM10248	blood:	n/a	n/a
15	E2F6	chrY:15776184-15776407	H1-hESC	embryonic stem cell:	n/a	n/a
16	FOXA1	chrY:15803530-15803854	HepG2	liver:	n/a	n/a
17	FOXA2	chrY:15803420-15804030	A549	lung:	n/a	n/a
18	FOXA2	chrY:15803536-15803922	A549	lung:	n/a	n/a
19	MXI1	chrY:15793010-15793051	HepG2	liver:	n/a	n/a
20	POLR2A	chrY:15813408-15813456	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chrY:15803653-15803799	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chrY:15781298-15781384	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chrY:15814600-15815001	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chrY:15784011-15784054	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chrY:15814455-15815072	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chrY:15814680-15814929	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chrY:15812913-15813022	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chrY:15811279-15811381	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chrY:15814682-15814903	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chrY:15808259-15808408	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chrY:15808253-15808387	H1-hESC	embryonic stem cell:	n/a	n/a
32	REST	chrY:15805329-15805500	H1-hESC	embryonic stem cell:	n/a	n/a
33	RXRA	chrY:15805358-15805507	HepG2	liver:	n/a	n/a
34	RXRA	chrY:15808236-15808393	HepG2	liver:	n/a	n/a
35	SP1	chrY:15808227-15808443	HepG2	liver:	n/a	n/a
36	SP1	chrY:15805286-15805566	HepG2	liver:	n/a	n/a
37	SPI1	chrY:15789694-15790016	GM12891	blood:	n/a	n/a
38	ZBTB33	chrY:15808220-15808409	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:15814685-15814735	HepG2	liver:	n/a
2	chrY:15814685-15814735	HepG2	liver:	n/a
3	chrY:15814320-15814370	SKMC	muscle:	n/a
4	chrY:15811945-15811995	BE2_C	brain:	n/a
5	chrY:15814685-15814735	HRCEpiC	kidney:	n/a
6	chrY:15814320-15814370	LNCaP	prostate:	n/a
7	chrY:15811945-15811995	HCT-116	colon:	n/a
8	chrY:15814320-15814370	T-47D	breast:	n/a
9	chrY:15811945-15811995	LNCaP	prostate:	n/a
10	chrY:15814320-15814370	BJ	skin:	n/a
11	chrY:15814320-15814370	BE2_C	brain:	n/a
12	chrY:15814685-15814735	HRE	kidney:	n/a
13	chrY:15814685-15814735	HCT-116	colon:	n/a
14	chrY:15811945-15811995	H1-hESC	embryonic stem cell:	embryo
15	chrY:15811945-15811995	PANC-1	pancreas:	n/a
16	chrY:15814685-15814735	PrEC	prostate:	n/a
17	chrY:15814685-15814735	NT2-D1	testis:	n/a
18	chrY:15811945-15811995	NB4	blood:	n/a
19	chrY:15814685-15814735	NHBE	bronchial:	n/a
20	chrY:15811945-15811995	HCF	heart:	n/a
21	chrY:15814685-15814735	BE2_C	brain:	n/a
22	chrY:15811945-15811995	HRCEpiC	kidney:	n/a
23	chrY:15814320-15814370	HNPCEpiC	eye:	n/a
24	chrY:15814320-15814370	HMEC	breast:	n/a
25	chrY:15814685-15814735	HNPCEpiC	eye:	n/a
26	chrY:15814685-15814735	AG09309	skin:	n/a
27	chrY:15814320-15814370	HEK293	kidney:	embryo
28	chrY:15811945-15811995	GM06990	blood:	n/a
29	chrY:15814685-15814735	AoSMC	blood vessel:	n/a
30	chrY:15811945-15811995	AG04450	lung:	fetal
31	chrY:15814685-15814735	Caco-2	colon:	n/a
32	chrY:15814685-15814735	SK-N-MC	brain:	n/a
33	chrY:15814685-15814735	Hepatocyte	liver:	n/a
34	chrY:15814685-15814735	GM12892	blood:	n/a
35	chrY:15814685-15814735	Hela-S3	cervix:	n/a
36	chrY:15811945-15811995	U87	brain:	n/a
37	chrY:15814685-15814735	HCM	heart:	n/a
38	chrY:15814685-15814735	PFSK-1	brain:	n/a
39	chrY:15814685-15814735	CMK	blood:	n/a
40	chrY:15814320-15814370	AG04449	skin:	fetal
41	chrY:15811945-15811995	AG04449	skin:	fetal
42	chrY:15811945-15811995	HRPEpiC	eye:	n/a
43	chrY:15814320-15814370	NB4	blood:	n/a
44	chrY:15814320-15814370	ovcar-3	ovarian:	n/a
45	chrY:15814685-15814735	GM12891	blood:	n/a
46	chrY:15814685-15814735	HEEpiC	esophagus:	n/a
47	chrY:15814320-15814370	HCF	heart:	n/a
48	chrY:15814320-15814370	HCT-116	colon:	n/a
49	chrY:15811945-15811995	RPTEC	kidney:	n/a
50	chrY:15811945-15811995	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000252694	TF binding region
TMSB4Y	TF binding region
ENSG00000252694	CpG island
TMSB4Y	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 50 )

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	rs531502414	chrY:15774424-15774425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547980202	chrY:15774531-15774532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568106763	chrY:15774611-15774612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527386172	chrY:15774898-15774899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369871033	chrY:15775202-15775203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371170183	chrY:15775488-15775489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113772063	chrY:15775809-15775810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547036003	chrY:15775910-15775911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570091886	chrY:15776024-15776025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111290192	chrY:15776040-15776041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199654971	chrY:15776087-15776088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539761091	chrY:15776739-15776740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574843030	chrY:15781305-15781306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34899148	chrY:15782774-15782775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575583880	chrY:15783401-15783402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72609675	chrY:15783544-15783545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76353346	chrY:15783643-15783644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565645453	chrY:15783779-15783780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374738642	chrY:15783910-15783911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376940484	chrY:15784063-15784064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370283849	chrY:15784386-15784387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13304423	chrY:15784412-15784413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13303939	chrY:15784413-15784414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199916582	chrY:15799225-15799226	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200708994	chrY:15799237-15799238	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs371486971	chrY:15799397-15799398	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs201111288	chrY:15802487-15802488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566281669	chrY:15802681-15802682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9786274	chrY:15810962-15810963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs563938488	chrY:15813046-15813047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527759203	chrY:15813473-15813474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547515136	chrY:15813500-15813501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377006006	chrY:15813842-15813843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1541511	chrY:15814487-15814488	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537404769	chrY:15814658-15814659	Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	21045282	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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:15774200-15775800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chrY:15775600-15776200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chrY:15776200-15776400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chrY:15776400-15777000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chrY:15782600-15784600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chrY:15799200-15799400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
7	chrY:15799200-15799600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chrY:15802200-15802800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chrY:15813000-15813600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chrY:15813000-15814200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chrY:15813200-15813400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrY:15813600-15815400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chrY:15814200-15815200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chrY:15814200-15817200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrY:15814200-15817800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chrY:15814400-15814600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chrY:15814400-15814600	Enhancers	HSMM	muscle
18	chrY:15814400-15814800	Enhancers	A549	lung
19	chrY:15814400-15815000	Enhancers	Placenta Amnion	Placenta Amnion
20	chrY:15814400-15817200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chrY:15814400-15817400	Active TSS	Fetal Intestine Large	intestine
22	chrY:15814400-15817800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chrY:15814400-15818000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chrY:15814400-15818000	Active TSS	Brain Germinal Matrix	brain
25	chrY:15814600-15814800	Enhancers	HUVEC	blood vessel
26	chrY:15814600-15817400	Active TSS	Fetal Intestine Small	intestine
27	chrY:15814600-15817800	Active TSS	H1 Cell Line	embryonic stem cell

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