Variant report

Variant	esv3423784
Chromosome Location	chrY:21032114-21034812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrY:21034657-21034881	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSFY2-3	chrY:21034389-21034720	ENSG00000176728.3
2	lnc-HSFY2-3	chrY:21034411-21034720	NONHSAT139607
3	lnc-HSFY2-3	chrY:21034387-21034720	ENSG00000176728.3
4	lnc-HSFY2-3	chrY:21034388-21034720	XLOC_008326
5	lnc-HSFY2-3	chrY:21034400-21034720	XLOC_008326

No data

Variant related genes	Relation type
MTCYBP2	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112457592	chrY:21033095-21033096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376034331	chrY:21033470-21033471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374019343	chrY:21033479-21033480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376360268	chrY:21033485-21033486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372657465	chrY:21033566-21033567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377064977	chrY:21033747-21033748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371858633	chrY:21033798-21033799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374608777	chrY:21034194-21034195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113616577	chrY:21034710-21034711	Enhancers Weak transcription	lncRNA	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
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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrY:21032600-21040800	Weak transcription	Fetal Intestine Large	intestine
2	chrY:21034600-21034800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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