Variant report

Variant	nsv534170
Chromosome Location	chrY:15744612-16023278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:748)
CpG islands
(count:854)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrY:15859385-15859652	A549	lung:	n/a	n/a
2	CEBPB	chrY:15859384-15859671	HepG2	liver:	n/a	n/a
3	CREB1	chrY:15815418-15815745	A549	lung:	n/a	n/a
4	CREB1	chrY:15815512-15815994	HepG2	liver:	n/a	n/a
5	CTCF	chrY:15850564-15850803	GM10266	blood:	n/a	n/a
6	CTCF	chrY:15841433-15841850	A549	lung:	n/a	n/a
7	CTCF	chrY:15850640-15850790	GM12870	blood:	n/a	n/a
8	CTCF	chrY:15863220-15863370	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chrY:15815460-15815610	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chrY:15844609-15844688	LNCaP	prostate:	n/a	n/a
11	CTCF	chrY:15936735-15936980	A549	lung:	n/a	n/a
12	CTCF	chrY:15974443-15974510	LNCaP	prostate:	n/a	n/a
13	CTCF	chrY:15863200-15863350	GM12866	blood:	n/a	n/a
14	CTCF	chrY:15766888-15766951	GM10266	blood:	n/a	n/a
15	CTCF	chrY:15794153-15794285	GM10248	blood:	n/a	n/a
16	CTCF	chrY:15841516-15841718	GM10266	blood:	n/a	n/a
17	CTCF	chrY:15991713-15991744	GM10248	blood:	n/a	n/a
18	CTCF	chrY:15850586-15850780	ProgFib	skin:	n/a	n/a
19	CTCF	chrY:15871821-15871857	ProgFib	skin:	n/a	n/a
20	CTCF	chrY:15850580-15850730	HFF	foreskin:	n/a	n/a
21	CTCF	chrY:15847571-15847625	GM20000	blood:	n/a	n/a
22	CTCF	chrY:15816398-15816537	Medullo	brain:	n/a	n/a
23	CTCF	chrY:15863188-15863348	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chrY:15841544-15841647	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chrY:15850560-15850710	BJ	skin:	n/a	n/a
26	CTCF	chrY:15850620-15850770	A549	lung:	n/a	n/a
27	CTCF	chrY:15863519-15863569	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chrY:15936788-15937001	A549	lung:	n/a	n/a
29	CTCF	chrY:15841489-15841715	Medullo	brain:	n/a	n/a
30	CTCF	chrY:15770819-15770826	GM10266	blood:	n/a	n/a
31	CTCF	chrY:15841520-15841670	SAEC	small airway:	n/a	n/a
32	CTCF	chrY:15863160-15863310	GM12864	blood:	n/a	n/a
33	CTCF	chrY:15841516-15841679	GM10248	blood:	n/a	n/a
34	CTCF	chrY:15936829-15936935	HepG2	liver:	n/a	n/a
35	CTCF	chrY:15815500-15815650	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chrY:15850600-15850750	GM12864	blood:	n/a	n/a
37	CTCF	chrY:15863200-15863350	GM12872	blood:	n/a	n/a
38	CTCF	chrY:15922424-15922493	LNCaP	prostate:	n/a	n/a
39	CTCF	chrY:15850640-15850790	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chrY:15964252-15964370	LNCaP	prostate:	n/a	n/a
41	CTCF	chrY:15785158-15785243	GM20000	blood:	n/a	n/a
42	CTCF	chrY:15850620-15850770	AG04449	skin:	n/a	n/a
43	CTCF	chrY:16006084-16006201	GM20000	blood:	n/a	n/a
44	CTCF	chrY:15810412-15810441	GM20000	blood:	n/a	n/a
45	CTCF	chrY:15864940-15865090	GM12871	blood:	n/a	n/a
46	CTCF	chrY:15850592-15850737	HepG2	liver:	n/a	n/a
47	CTCF	chrY:15841518-15841677	ProgFib	skin:	n/a	n/a
48	CTCF	chrY:15810954-15810987	GM10248	blood:	n/a	n/a
49	CTCF	chrY:15815466-15815654	A549	lung:	n/a	n/a
50	CTCF	chrY:15783711-15783726	LNCaP	prostate:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrY:15864778-15864828	SAEC	small airway:	n/a
2	chrY:15816361-15816411	HEEpiC	esophagus:	n/a
3	chrY:15866447-15866497	T-47D	breast:	n/a
4	chrY:15866837-15866887	SK-N-SH	brain:	n/a
5	chrY:15863901-15863951	K562	blood:	n/a
6	chrY:15864778-15864828	GM12891	blood:	n/a
7	chrY:15817871-15817921	HCF	heart:	n/a
8	chrY:15815552-15815602	HMEC	breast:	n/a
9	chrY:15815552-15815602	GM12891	blood:	n/a
10	chrY:15866837-15866887	ProgFib	skin:	n/a
11	chrY:15816361-15816411	NHDF-neo	bronchial:	n/a
12	chrY:15817372-15817422	CMK	blood:	n/a
13	chrY:15815688-15815738	CMK	blood:	n/a
14	chrY:15863901-15863951	NHDF-neo	bronchial:	n/a
15	chrY:15866447-15866497	GM12878	blood:	n/a
16	chrY:15815552-15815602	AG04449	skin:	fetal
17	chrY:15863901-15863951	Jurkat	blood:	n/a
18	chrY:15866837-15866887	HPAEpiC	pulmonary alveolar:	n/a
19	chrY:15863901-15863951	BE2_C	brain:	n/a
20	chrY:15866447-15866497	RPTEC	kidney:	n/a
21	chrY:15814685-15814735	AG04450	lung:	fetal
22	chrY:15815688-15815738	SK-N-SH_RA	brain:	n/a
23	chrY:15811945-15811995	GM12891	blood:	n/a
24	chrY:15866837-15866887	HAEpiC	amniotic membrane:	n/a
25	chrY:15863367-15863417	HRCEpiC	kidney:	n/a
26	chrY:15817871-15817921	LNCaP	prostate:	n/a
27	chrY:15815688-15815738	PrEC	prostate:	n/a
28	chrY:15817372-15817422	AG10803	skin:	n/a
29	chrY:15863367-15863417	T-47D	breast:	n/a
30	chrY:15814685-15814735	GM12891	blood:	n/a
31	chrY:15817372-15817422	HAEpiC	amniotic membrane:	n/a
32	chrY:15815688-15815738	SK-N-SH	brain:	n/a
33	chrY:15814320-15814370	BE2_C	brain:	n/a
34	chrY:15863901-15863951	HRCEpiC	kidney:	n/a
35	chrY:15815688-15815738	SK-N-MC	brain:	n/a
36	chrY:15864778-15864828	GM12878	blood:	n/a
37	chrY:15863901-15863951	MCF10A-Er-Src	breast:	n/a
38	chrY:15816361-15816411	SKMC	muscle:	n/a
39	chrY:15817871-15817921	Hepatocyte	liver:	n/a
40	chrY:15864778-15864828	PrEC	prostate:	n/a
41	chrY:15863901-15863951	ovcar-3	ovarian:	n/a
42	chrY:15817372-15817422	AG04450	lung:	fetal
43	chrY:15864778-15864828	HMEC	breast:	n/a
44	chrY:15863901-15863951	H1-hESC	embryonic stem cell:	embryo
45	chrY:15864778-15864828	AG10803	skin:	n/a
46	chrY:15863486-15863536	Hela-S3	cervix:	n/a
47	chrY:15811945-15811995	ovcar-3	ovarian:	n/a
48	chrY:15817372-15817422	IMR90	lung:	fetal
49	chrY:15864778-15864828	AG09309	skin:	n/a
50	chrY:15817871-15817921	HRCEpiC	kidney:	n/a

No data

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

Extended variants
information (count: 852 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:852 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

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
36	rs61713008	chrY:15815376-15815377	Active TSS Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556848823	chrY:15815401-15815402	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9786077	chrY:15815443-15815444	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs9786413	chrY:15815516-15815517	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs9786739	chrY:15815593-15815594	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs9786776	chrY:15815616-15815617	Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2319533	chrY:15815842-15815843	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370276852	chrY:15815995-15815996	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570780654	chrY:15816039-15816040	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs34464846	chrY:15816080-15816081	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs13303743	chrY:15816093-15816094	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs13303967	chrY:15816094-15816095	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs13305898	chrY:15816105-15816106	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs13305904	chrY:15816112-15816113	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13305905	chrY:15816113-15816114	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	22183965	CNVD

Chromatin state (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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
28	chrY:15814800-15815000	Flanking Active TSS	A549	lung
29	chrY:15814800-15815200	Enhancers	Esophagus	oesophagus
30	chrY:15814800-15815200	Enhancers	Right Atrium	heart
31	chrY:15814800-15815200	Enhancers	Thymus	Thymus
32	chrY:15814800-15815400	Enhancers	Primary T cells fromperipheralblood	blood
33	chrY:15814800-15815400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chrY:15814800-15815400	Enhancers	Dnd41	blood
35	chrY:15814800-15816600	Active TSS	Gastric	stomach
36	chrY:15814800-15816600	Active TSS	HUVEC	blood vessel
37	chrY:15814800-15816800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chrY:15814800-15816800	Active TSS	Duodenum Mucosa	Duodenum
39	chrY:15814800-15817000	Active TSS	Liver	Liver
40	chrY:15814800-15817000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chrY:15814800-15817200	Active TSS	Right Ventricle	heart
42	chrY:15814800-15817400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chrY:15814800-15818200	Active TSS	Brain Hippocampus Middle	brain
44	chrY:15815000-15815400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chrY:15815000-15817400	Active TSS	Aorta	Aorta
46	chrY:15815000-15817800	Active TSS	A549	lung
47	chrY:15815200-15815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chrY:15815200-15815400	Weak transcription	Right Atrium	heart
49	chrY:15815400-15815600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chrY:15815400-15815600	Active TSS	NH-A	brain

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