Variant report

Variant	esv1689693
Chromosome Location	chrY:15815360-15815393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chrY:15815384-15815918	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA2	chrY:15815201-15815922	A549	lung:	n/a	n/a
3	FOXA2	chrY:15815153-15815902	A549	lung:	n/a	n/a
4	MAX	chrY:15815382-15815934	HepG2	liver:	n/a	n/a
5	MAX	chrY:15815340-15816033	A549	lung:	n/a	n/a
6	MAX	chrY:15815326-15816124	A549	lung:	n/a	n/a
7	MAX	chrY:15815381-15815880	HepG2	liver:	n/a	n/a
8	POLR2A	chrY:15815384-15816503	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chrY:15815365-15815934	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chrY:15815391-15816376	GM12891	blood:	n/a	n/a
11	POLR2A	chrY:15815392-15815954	A549	lung:	n/a	n/a
12	POLR2A	chrY:15815385-15815914	A549	lung:	n/a	n/a
13	POLR2A	chrY:15815387-15816423	GM12891	blood:	n/a	n/a
14	POLR2A	chrY:15815330-15816041	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chrY:15815387-15816500	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chrY:15815133-15816694	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chrY:15815391-15815825	A549	lung:	n/a	n/a
18	POLR2A	chrY:15815392-15815827	A549	lung:	n/a	n/a
19	POLR2A	chrY:15815264-15816412	GM12891	blood:	n/a	n/a
20	POLR2A	chrY:15815300-15816769	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chrY:15815383-15815913	H1-neurons	neurons:	n/a	n/a
22	RAD21	chrY:15815386-15815853	H1-hESC	embryonic stem cell:	n/a	n/a
23	REST	chrY:15815382-15815802	H1-neurons	neurons:	n/a	n/a
24	REST	chrY:15815338-15817564	H1-neurons	neurons:	n/a	n/a
25	TAF1	chrY:15815355-15816581	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chrY:15815338-15815936	A549	lung:	n/a	n/a
27	TAF1	chrY:15815280-15815887	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF7	chrY:15815350-15816451	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chrY:15815310-15815807	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
TMSB4Y	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 50 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61713008	chrY:15815376-15815377	Active TSS Weak transcription Enhancers	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:15813600-15815400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chrY:15814200-15817200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrY:15814200-15817800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chrY:15814400-15817200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chrY:15814400-15817400	Active TSS	Fetal Intestine Large	intestine
6	chrY:15814400-15817800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chrY:15814400-15818000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chrY:15814400-15818000	Active TSS	Brain Germinal Matrix	brain
9	chrY:15814600-15817400	Active TSS	Fetal Intestine Small	intestine
10	chrY:15814600-15817800	Active TSS	H1 Cell Line	embryonic stem cell
11	chrY:15814800-15815400	Enhancers	Primary T cells fromperipheralblood	blood
12	chrY:15814800-15815400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chrY:15814800-15815400	Enhancers	Dnd41	blood
14	chrY:15814800-15816600	Active TSS	Gastric	stomach
15	chrY:15814800-15816600	Active TSS	HUVEC	blood vessel
16	chrY:15814800-15816800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chrY:15814800-15816800	Active TSS	Duodenum Mucosa	Duodenum
18	chrY:15814800-15817000	Active TSS	Liver	Liver
19	chrY:15814800-15817000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chrY:15814800-15817200	Active TSS	Right Ventricle	heart
21	chrY:15814800-15817400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chrY:15814800-15818200	Active TSS	Brain Hippocampus Middle	brain
23	chrY:15815000-15815400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chrY:15815000-15817400	Active TSS	Aorta	Aorta
25	chrY:15815000-15817800	Active TSS	A549	lung
26	chrY:15815200-15815400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chrY:15815200-15815400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links