Variant report

Variant	esv3396930
Chromosome Location	chrY:22775876-22888454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrY:22813416-22813802	HepG2	liver:	n/a	chrY:22813627-22813638
2	CTCF	chrY:22849549-22849665	LNCaP	prostate:	n/a	n/a
3	CTCF	chrY:22811024-22811193	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chrY:22810260-22810410	RPTEC	kidney:	n/a	n/a
5	CTCF	chrY:22810860-22811010	RPTEC	kidney:	n/a	n/a
6	CTCF	chrY:22810826-22811228	LNCaP	prostate:	n/a	n/a
7	CTCF	chrY:22810960-22811110	GM12871	blood:	n/a	n/a
8	CTCF	chrY:22810860-22811010	GM12872	blood:	n/a	n/a
9	CTCF	chrY:22810231-22810545	LNCaP	prostate:	n/a	n/a
10	CTCF	chrY:22828260-22828323	GM10266	blood:	n/a	n/a
11	CTCF	chrY:22810860-22811010	GM12874	blood:	n/a	n/a
12	CTCF	chrY:22810420-22810570	HFF	foreskin:	n/a	n/a
13	CTCF	chrY:22861732-22861734	GM10248	blood:	n/a	n/a
14	CTCF	chrY:22810880-22811030	GM12871	blood:	n/a	n/a
15	CTCF	chrY:22810890-22811154	GM19239	blood:	n/a	n/a
16	CTCF	chrY:22858920-22859070	GM12864	blood:	n/a	n/a
17	CTCF	chrY:22809906-22809998	GM10248	blood:	n/a	n/a
18	CTCF	chrY:22810828-22811150	LNCaP	prostate:	n/a	n/a
19	CTCF	chrY:22810846-22811040	GM10248	blood:	n/a	n/a
20	CTCF	chrY:22809934-22809984	HepG2	liver:	n/a	n/a
21	CTCF	chrY:22809894-22810098	GM12891	blood:	n/a	n/a
22	CTCF	chrY:22811821-22811890	LNCaP	prostate:	n/a	n/a
23	CTCF	chrY:22810880-22811030	GM12864	blood:	n/a	n/a
24	CTCF	chrY:22778292-22778356	Medullo	brain:	n/a	n/a
25	CTCF	chrY:22810652-22810788	LNCaP	prostate:	n/a	n/a
26	CTCF	chrY:22838695-22838764	LNCaP	prostate:	n/a	n/a
27	CTCF	chrY:22809880-22810030	GM12872	blood:	n/a	n/a
28	CTCF	chrY:22810903-22811157	GM20000	blood:	n/a	n/a
29	CTCF	chrY:22780585-22780631	GM10248	blood:	n/a	n/a
30	CTCF	chrY:22858940-22859090	GM12864	blood:	n/a	n/a
31	CTCF	chrY:22810823-22811100	A549	lung:	n/a	n/a
32	CTCF	chrY:22804866-22804943	LNCaP	prostate:	n/a	n/a
33	CTCF	chrY:22810863-22811181	A549	lung:	n/a	n/a
34	CTCF	chrY:22810280-22810430	RPTEC	kidney:	n/a	n/a
35	CTCF	chrY:22810855-22811184	HepG2	liver:	n/a	n/a
36	CTCF	chrY:22809740-22809890	GM12870	blood:	n/a	n/a
37	CTCF	chrY:22810920-22811070	HepG2	liver:	n/a	n/a
38	CTCF	chrY:22810850-22810991	HepG2	liver:	n/a	n/a
39	CTCF	chrY:22838506-22838553	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chrY:22810932-22811203	GM12891	blood:	n/a	n/a
41	CTCF	chrY:22810940-22811090	GM12864	blood:	n/a	n/a
42	CTCF	chrY:22809900-22810050	GM12871	blood:	n/a	n/a
43	CTCF	chrY:22809925-22809995	A549	lung:	n/a	n/a
44	CTCF	chrY:22781391-22781531	GM20000	blood:	n/a	n/a
45	CTCF	chrY:22810292-22810443	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chrY:22839329-22839432	LNCaP	prostate:	n/a	n/a
47	CTCF	chrY:22810220-22810370	HFF	foreskin:	n/a	n/a
48	CTCF	chrY:22874487-22874521	LNCaP	prostate:	n/a	n/a
49	CTCF	chrY:22810940-22811090	HCT-116	colon:	n/a	n/a
50	CTCF	chrY:22809900-22810050	GM12874	blood:	n/a	n/a

No data

Variant related genes	Relation type
TBL1YP1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 54 )

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	rs142591864	chrY:22821944-22821945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13304662	chrY:22822081-22822082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13305046	chrY:22822082-22822083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568028209	chrY:22822134-22822135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376405609	chrY:22825821-22825822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376307455	chrY:22835237-22835238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138802901	chrY:22843249-22843250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556317246	chrY:22843710-22843711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372495103	chrY:22843912-22843913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556432677	chrY:22845297-22845298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112876550	chrY:22845794-22845795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377334525	chrY:22845992-22845993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372413392	chrY:22846228-22846229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576284372	chrY:22846287-22846288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542019847	chrY:22846450-22846451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561784798	chrY:22847146-22847147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377182502	chrY:22847217-22847218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575304537	chrY:22847367-22847368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571997338	chrY:22848965-22848966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13305252	chrY:22849588-22849589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541065966	chrY:22849929-22849930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557582359	chrY:22882865-22882866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577277294	chrY:22882891-22882892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113981962	chrY:22883071-22883072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111914852	chrY:22883286-22883287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543017597	chrY:22883627-22883628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556536203	chrY:22883732-22883733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12543720	chrY:22884050-22884051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35386599	chrY:22884133-22884134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75379172	chrY:22884402-22884403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574036745	chrY:22884954-22884955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200899028	chrY:22885154-22885155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372569726	chrY:22885623-22885624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542899149	chrY:22885653-22885654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559926565	chrY:22886902-22886903	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:22820800-22822200	Enhancers	Primary B cells from peripheral blood	blood
2	chrY:22821600-22822200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrY:22825800-22826200	Enhancers	Right Atrium	heart
4	chrY:22835200-22835600	Enhancers	Dnd41	blood
5	chrY:22843200-22844200	Enhancers	Primary B cells from peripheral blood	blood
6	chrY:22844200-22847800	Weak transcription	Primary B cells from peripheral blood	blood
7	chrY:22847800-22848200	Enhancers	Primary B cells from peripheral blood	blood
8	chrY:22848200-22849600	Weak transcription	Primary B cells from peripheral blood	blood
9	chrY:22849600-22850000	Enhancers	Primary B cells from peripheral blood	blood
10	chrY:22882800-22883200	Enhancers	Primary B cells from peripheral blood	blood
11	chrY:22883200-22886600	Weak transcription	Primary B cells from peripheral blood	blood
12	chrY:22886600-22891000	Enhancers	Primary B cells from peripheral blood	blood
13	chrY:22888000-22888800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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