Variant report

Variant	nsv817415
Chromosome Location	chrX:5803207-5833017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:734)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrX:5808670-5808870	A549	lung:	n/a	n/a
2	CEBPB	chrX:5804956-5805176	H1-hESC	embryonic stem cell:	n/a	chrX:5805060-5805071
3	CTCF	chrX:5825600-5825750	GM12868	blood:	n/a	n/a
4	CTCF	chrX:5811020-5811079	GM19239	blood:	n/a	n/a
5	CTCF	chrX:5825999-5826093	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chrX:5830841-5830882	GM10248	blood:	n/a	n/a
7	CTCF	chrX:5827176-5827231	Medullo	brain:	n/a	n/a
8	CTCF	chrX:5807420-5807570	GM06990	blood:	n/a	n/a
9	CTCF	chrX:5818709-5818742	ProgFib	skin:	n/a	n/a
10	CTCF	chrX:5820920-5820986	ProgFib	skin:	n/a	n/a
11	CTCF	chrX:5809920-5809936	GM10248	blood:	n/a	n/a
12	CTCF	chrX:5821402-5821489	GM10248	blood:	n/a	n/a
13	CTCF	chrX:5821561-5821579	GM13976	blood:	n/a	n/a
14	CTCF	chrX:5813075-5813149	GM20000	blood:	n/a	n/a
15	CTCF	chrX:5808655-5808723	LNCaP	prostate:	n/a	n/a
16	CTCF	chrX:5823858-5823910	GM20000	blood:	n/a	n/a
17	CTCF	chrX:5816724-5816812	ProgFib	skin:	n/a	n/a
18	CTCF	chrX:5826160-5826230	GM20000	blood:	n/a	n/a
19	CTCF	chrX:5809860-5809905	Medullo	brain:	n/a	n/a
20	E2F4	chrX:5823296-5823477	MCF10A-Er-Src	breast:	n/a	chrX:5823436-5823445
21	E2F4	chrX:5828140-5828340	MCF10A-Er-Src	breast:	n/a	chrX:5828242-5828251
22	JUND	chrX:5805006-5805107	HepG2	liver:	n/a	n/a
23	MAFK	chrX:5820220-5820296	HepG2	liver:	n/a	n/a
24	MYC	chrX:5821410-5821631	HUVEC	blood vessel:	n/a	n/a
25	MYC	chrX:5821785-5821806	MCF-7	breast:	n/a	n/a
26	MYC	chrX:5811062-5811088	GM12878	blood:	n/a	n/a
27	MYC	chrX:5821558-5821587	MCF-7	breast:	n/a	n/a
28	MYC	chrX:5811016-5811109	MCF-7	breast:	n/a	n/a
29	MYC	chrX:5833007-5833093	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chrX:5809584-5809617	HUVEC	blood vessel:	n/a	n/a
31	MYC	chrX:5809531-5809578	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chrX:5809229-5809234	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chrX:5821451-5821714	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chrX:5821504-5821717	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chrX:5814378-5814436	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chrX:5821444-5821747	ProgFib	skin:	n/a	n/a
37	POLR2A	chrX:5806808-5806904	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chrX:5821792-5821826	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chrX:5809115-5809216	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chrX:5811523-5811635	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chrX:5820917-5821091	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chrX:5808485-5808518	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chrX:5816677-5816915	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chrX:5829594-5829816	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chrX:5824667-5824711	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chrX:5821724-5821763	A549	lung:	n/a	n/a
47	POLR2A	chrX:5806587-5806710	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chrX:5821863-5822082	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chrX:5820203-5820259	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chrX:5824906-5825113	Hela-S3	cervix:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:5821720-5821770	NH-A	brain:	n/a
2	chrX:5808230-5808280	HPAEpiC	pulmonary alveolar:	n/a
3	chrX:5821720-5821770	NH-A	brain:	n/a
4	chrX:5808230-5808280	HPAEpiC	pulmonary alveolar:	n/a
5	chrX:5821020-5821070	NHBE	bronchial:	n/a
6	chrX:5821227-5821277	HUVEC	blood vessel:	n/a
7	chrX:5821020-5821070	GM19239	blood:	n/a
8	chrX:5808230-5808280	HMEC	breast:	n/a
9	chrX:5821227-5821277	HCF	heart:	n/a
10	chrX:5821362-5821412	ECC-1	luminal epithelium:	n/a
11	chrX:5821362-5821412	GM19239	blood:	n/a
12	chrX:5821020-5821070	SKMC	muscle:	n/a
13	chrX:5811303-5811353	A549	lung:	n/a
14	chrX:5809841-5809891	AG10803	skin:	n/a
15	chrX:5811085-5811135	MCF-7	breast:	n/a
16	chrX:5811145-5811195	SK-N-SH	brain:	n/a
17	chrX:5821020-5821070	PrEC	prostate:	n/a
18	chrX:5809841-5809891	Jurkat	blood:	n/a
19	chrX:5811145-5811195	ovcar-3	ovarian:	n/a
20	chrX:5824743-5824793	SK-N-MC	brain:	n/a
21	chrX:5811085-5811135	PrEC	prostate:	n/a
22	chrX:5809841-5809891	AG09309	skin:	n/a
23	chrX:5817998-5818048	HRE	kidney:	n/a
24	chrX:5821362-5821412	BJ	skin:	n/a
25	chrX:5815108-5815158	ovcar-3	ovarian:	n/a
26	chrX:5821227-5821277	AoSMC	blood vessel:	n/a
27	chrX:5817998-5818048	HRPEpiC	eye:	n/a
28	chrX:5815108-5815158	SAEC	small airway:	n/a
29	chrX:5821020-5821070	AG04450	lung:	fetal
30	chrX:5821020-5821070	K562	blood:	n/a
31	chrX:5821720-5821770	GM12891	blood:	n/a
32	chrX:5824743-5824793	LNCaP	prostate:	n/a
33	chrX:5821720-5821770	MCF10A-Er-Src	breast:	n/a
34	chrX:5821020-5821070	HRPEpiC	eye:	n/a
35	chrX:5821227-5821277	HPAEpiC	pulmonary alveolar:	n/a
36	chrX:5821720-5821770	BJ	skin:	n/a
37	chrX:5811303-5811353	HIPEpiC	eye:	n/a
38	chrX:5824743-5824793	MCF-7	breast:	n/a
39	chrX:5821020-5821070	MCF-7	breast:	n/a
40	chrX:5815108-5815158	HUVEC	blood vessel:	n/a
41	chrX:5809841-5809891	SK-N-SH	brain:	n/a
42	chrX:5811145-5811195	SK-N-MC	brain:	n/a
43	chrX:5821720-5821770	IMR90	lung:	fetal
44	chrX:5815108-5815158	HL-60	blood:	n/a
45	chrX:5821227-5821277	ECC-1	luminal epithelium:	n/a
46	chrX:5809841-5809891	HUVEC	blood vessel:	n/a
47	chrX:5821720-5821770	SK-N-SH	brain:	n/a
48	chrX:5821362-5821412	HRPEpiC	eye:	n/a
49	chrX:5808230-5808280	AG10803	skin:	n/a
50	chrX:5824743-5824793	NHBE	bronchial:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VCX3A-5	chrX:5808101-5809458	NONHSAT136161

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NLGN4X	hsa-miR-26b-5p	chrX:5808325-5808346

Variant related genes	Relation type
NLGN4X	TF binding region
NLGN4X	CpG island

Extended variants
information (count: 531 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373247635	chrX:5803245-5803246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112157936	chrX:5803427-5803428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553668939	chrX:5803451-5803452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572332662	chrX:5803456-5803457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183382585	chrX:5803472-5803473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188257858	chrX:5803550-5803551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9887513	chrX:5803758-5803759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193169798	chrX:5803871-5803872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78220007	chrX:5803895-5803896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539372436	chrX:5803953-5803954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537828281	chrX:5803980-5803981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184587842	chrX:5804005-5804006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558049799	chrX:5804019-5804020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189857635	chrX:5804273-5804274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191946069	chrX:5804287-5804288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377547540	chrX:5804322-5804323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12857514	chrX:5804396-5804397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75647679	chrX:5804413-5804414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370848308	chrX:5804437-5804438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12847560	chrX:5804442-5804443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12847735	chrX:5804470-5804471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12850277	chrX:5804471-5804472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183751406	chrX:5804474-5804475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150152695	chrX:5804574-5804575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137978083	chrX:5804664-5804665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188427201	chrX:5804674-5804675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34233772	chrX:5804706-5804707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376894999	chrX:5804716-5804717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5961881	chrX:5804756-5804757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145203332	chrX:5804843-5804844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181863238	chrX:5804880-5804881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112207600	chrX:5804904-5804905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533810971	chrX:5804985-5804986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187574596	chrX:5805042-5805043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201433107	chrX:5805072-5805073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199666473	chrX:5805078-5805079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200302294	chrX:5805081-5805082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376510121	chrX:5805082-5805083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201498892	chrX:5805083-5805084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200983160	chrX:5805084-5805085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112427141	chrX:5805085-5805086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56377144	chrX:5805099-5805100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376740426	chrX:5805100-5805101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78435580	chrX:5805101-5805102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189863303	chrX:5805164-5805165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181918272	chrX:5805208-5805209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186955164	chrX:5805312-5805313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12115896	chrX:5805477-5805478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200210651	chrX:5805593-5805594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143944486	chrX:5805652-5805653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
short stature	22470819	CNVD
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5792600-5808400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chrX:5792600-5821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chrX:5792800-5809600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chrX:5793600-5806800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chrX:5796000-5809600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chrX:5799600-5828600	Weak transcription	Ovary	ovary
7	chrX:5805200-5806800	Weak transcription	Dnd41	blood
8	chrX:5805200-5809800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chrX:5805400-5820200	Weak transcription	Fetal Brain Female	brain
10	chrX:5805600-5820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:5805800-5809600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chrX:5806000-5809800	Weak transcription	Fetal Thymus	thymus
13	chrX:5806000-5820400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chrX:5806200-5809600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:5806600-5809600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chrX:5806600-5810400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chrX:5806800-5807800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chrX:5806800-5833200	Strong transcription	Dnd41	blood
19	chrX:5807600-5809400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chrX:5807800-5809000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chrX:5808000-5810000	Weak transcription	Brain Germinal Matrix	brain
22	chrX:5808400-5808800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chrX:5808400-5820200	Weak transcription	Fetal Stomach	stomach
24	chrX:5808800-5810400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chrX:5809000-5811600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chrX:5809400-5809800	Enhancers	Brain Hippocampus Middle	brain
27	chrX:5809400-5811800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chrX:5809600-5811200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chrX:5809600-5811200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chrX:5809600-5811200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chrX:5809600-5811800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chrX:5809600-5811800	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chrX:5809800-5810600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chrX:5809800-5811000	Strong transcription	Fetal Thymus	thymus
35	chrX:5810000-5811000	Strong transcription	Brain Germinal Matrix	brain
36	chrX:5810000-5823000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chrX:5810400-5811200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chrX:5810400-5811200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chrX:5810600-5811000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
40	chrX:5810600-5811200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chrX:5810600-5823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chrX:5811000-5816800	Weak transcription	Fetal Thymus	thymus
43	chrX:5811000-5820600	Weak transcription	Brain Germinal Matrix	brain
44	chrX:5811200-5813000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chrX:5811200-5816600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chrX:5811200-5819000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chrX:5811200-5819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chrX:5811200-5819200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chrX:5811200-5819200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chrX:5811600-5817000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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