Variant report

Variant	nsv521266
Chromosome Location	chrX:79231201-79274979
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chrX:79238628-79238995	K562	blood:	n/a	n/a
2	CTCF	chrX:79236833-79236918	GM20000	blood:	n/a	n/a
3	CTCF	chrX:79238766-79238785	GM19239	blood:	n/a	n/a
4	CTCF	chrX:79268755-79268834	GM20000	blood:	n/a	n/a
5	CTCF	chrX:79238736-79238820	MCF-7	breast:	n/a	n/a
6	CTCF	chrX:79238747-79238828	MCF-7	breast:	n/a	n/a
7	CTCF	chrX:79259925-79259967	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chrX:79237153-79237201	LNCaP	prostate:	n/a	n/a
9	CTCF	chrX:79238712-79238828	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chrX:79238696-79238828	MCF-7	breast:	n/a	n/a
11	CTCF	chrX:79269448-79269509	LNCaP	prostate:	n/a	chrX:79269456-79269464
12	CTCF	chrX:79238703-79238829	MCF-7	breast:	n/a	n/a
13	CTCF	chrX:79238715-79238826	ProgFib	skin:	n/a	n/a
14	CTCF	chrX:79270085-79270094	LNCaP	prostate:	n/a	n/a
15	CTCF	chrX:79241337-79241427	Pancreas_OC	pancreas:	n/a	n/a
16	E2F4	chrX:79260940-79261074	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chrX:79238784-79239243	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chrX:79252327-79252583	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chrX:79238640-79238996	GM12878	blood:	n/a	n/a
20	ELF1	chrX:79269942-79270317	GM12878	blood:	n/a	chrX:79270176-79270187 chrX:79270177-79270186 chrX:79270176-79270187
21	FAM48A	chrX:79238348-79238688	GM12878	blood:	n/a	n/a
22	FOS	chrX:79265983-79266158	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chrX:79271710-79272061	MCF10A-Er-Src	breast:	n/a	chrX:79271877-79271887 chrX:79271878-79271885 chrX:79271878-79271887 chrX:79271876-79271888 chrX:79271877-79271886 chrX:79271877-79271887
24	FOS	chrX:79271733-79272025	MCF10A-Er-Src	breast:	n/a	chrX:79271877-79271887 chrX:79271878-79271885 chrX:79271878-79271887 chrX:79271876-79271888 chrX:79271877-79271886 chrX:79271877-79271887
25	FOS	chrX:79262596-79262739	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chrX:79271711-79272061	MCF10A-Er-Src	breast:	n/a	chrX:79271877-79271887 chrX:79271878-79271885 chrX:79271878-79271887 chrX:79271876-79271888 chrX:79271877-79271886 chrX:79271877-79271887
27	FOS	chrX:79271711-79272052	MCF10A-Er-Src	breast:	n/a	chrX:79271877-79271887 chrX:79271878-79271885 chrX:79271878-79271887 chrX:79271876-79271888 chrX:79271877-79271886 chrX:79271877-79271887
28	GATA3	chrX:79268563-79268696	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chrX:79238630-79238995	MCF-7	breast:	n/a	n/a
30	IRF1	chrX:79238639-79238995	K562	blood:	n/a	n/a
31	IRF1	chrX:79238633-79238834	K562	blood:	n/a	n/a
32	JUND	chrX:79233197-79233292	HepG2	liver:	n/a	chrX:79233238-79233247
33	JUND	chrX:79271757-79271944	HepG2	liver:	n/a	chrX:79271877-79271887 chrX:79271876-79271887 chrX:79271878-79271885 chrX:79271878-79271887 chrX:79271876-79271888 chrX:79271877-79271886 chrX:79271877-79271887
34	MAFF	chrX:79260011-79260300	HepG2	liver:	n/a	chrX:79260149-79260167
35	MAFF	chrX:79260095-79260328	K562	blood:	n/a	chrX:79260149-79260167
36	MAFK	chrX:79260061-79260202	H1-hESC	embryonic stem cell:	n/a	chrX:79260150-79260165 chrX:79260154-79260165 chrX:79260150-79260166 chrX:79260153-79260167 chrX:79260154-79260165 chrX:79260155-79260166 chrX:79260155-79260166
37	MAFK	chrX:79259983-79260325	HepG2	liver:	n/a	chrX:79260150-79260165 chrX:79260154-79260165 chrX:79260150-79260166 chrX:79260153-79260167 chrX:79260154-79260165 chrX:79260155-79260166 chrX:79260155-79260166
38	MAFK	chrX:79260053-79260278	HepG2	liver:	n/a	chrX:79260150-79260165 chrX:79260154-79260165 chrX:79260150-79260166 chrX:79260153-79260167 chrX:79260154-79260165 chrX:79260155-79260166 chrX:79260155-79260166
39	MAFK	chrX:79259986-79260331	IMR90	lung:	n/a	chrX:79260150-79260165 chrX:79260154-79260165 chrX:79260150-79260166 chrX:79260153-79260167 chrX:79260154-79260165 chrX:79260155-79260166 chrX:79260155-79260166
40	MAFK	chrX:79260055-79260257	K562	blood:	n/a	chrX:79260150-79260165 chrX:79260154-79260165 chrX:79260150-79260166 chrX:79260153-79260167 chrX:79260154-79260165 chrX:79260155-79260166 chrX:79260155-79260166
41	MAZ	chrX:79238804-79239010	GM12878	blood:	n/a	n/a
42	MYC	chrX:79237048-79237095	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chrX:79238623-79238829	MCF-7	breast:	n/a	n/a
44	MYC	chrX:79238791-79238920	HUVEC	blood vessel:	n/a	n/a
45	MYC	chrX:79238617-79238831	MCF-7	breast:	n/a	n/a
46	NANOG	chrX:79269828-79270031	H1-hESC	embryonic stem cell:	n/a	chrX:79269917-79269926
47	NANOG	chrX:79269718-79270024	H1-hESC	embryonic stem cell:	n/a	chrX:79269917-79269926
48	POLR2A	chrX:79270382-79270449	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chrX:79253145-79253238	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chrX:79270298-79270311	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:79269739-79269789	Hela-S3	cervix:	n/a
2	chrX:79269739-79269789	Hela-S3	cervix:	n/a
3	chrX:79269739-79269789	AG10803	skin:	n/a
4	chrX:79270180-79270230	SK-N-SH	brain:	n/a
5	chrX:79270225-79270275	SAEC	small airway:	n/a
6	chrX:79270225-79270275	NH-A	brain:	n/a
7	chrX:79269151-79269201	AG04450	lung:	fetal
8	chrX:79269151-79269201	GM06990	blood:	n/a
9	chrX:79269151-79269201	HNPCEpiC	eye:	n/a
10	chrX:79269739-79269789	HEEpiC	esophagus:	n/a
11	chrX:79270225-79270275	HCT-116	colon:	n/a
12	chrX:79270225-79270275	ovcar-3	ovarian:	n/a
13	chrX:79270180-79270230	HRPEpiC	eye:	n/a
14	chrX:79269151-79269201	AG09319	gingival:	n/a
15	chrX:79270180-79270230	SAEC	small airway:	n/a
16	chrX:79270225-79270275	CMK	blood:	n/a
17	chrX:79269151-79269201	H1-hESC	embryonic stem cell:	embryo
18	chrX:79269739-79269789	T-47D	breast:	n/a
19	chrX:79269151-79269201	ovcar-3	ovarian:	n/a
20	chrX:79270180-79270230	RPTEC	kidney:	n/a
21	chrX:79270180-79270230	T-47D	breast:	n/a
22	chrX:79269739-79269789	PFSK-1	brain:	n/a
23	chrX:79269739-79269789	MCF-7	breast:	n/a
24	chrX:79270225-79270275	HRE	kidney:	n/a
25	chrX:79270225-79270275	PrEC	prostate:	n/a
26	chrX:79270180-79270230	HCPEpiC	choroid plexus:	n/a
27	chrX:79269151-79269201	SKMC	muscle:	n/a
28	chrX:79270180-79270230	Hepatocyte	liver:	n/a
29	chrX:79269151-79269201	AG09309	skin:	n/a
30	chrX:79270180-79270230	Caco-2	colon:	n/a
31	chrX:79269739-79269789	HCPEpiC	choroid plexus:	n/a
32	chrX:79270180-79270230	GM19239	blood:	n/a
33	chrX:79270180-79270230	AG04449	skin:	fetal
34	chrX:79269739-79269789	HRPEpiC	eye:	n/a
35	chrX:79270225-79270275	MCF10A-Er-Src	breast:	n/a
36	chrX:79269739-79269789	ovcar-3	ovarian:	n/a
37	chrX:79270180-79270230	HepG2	liver:	n/a
38	chrX:79270225-79270275	HEK293	kidney:	embryo
39	chrX:79269151-79269201	A549	lung:	n/a
40	chrX:79269739-79269789	BE2_C	brain:	n/a
41	chrX:79269151-79269201	HUVEC	blood vessel:	n/a
42	chrX:79269151-79269201	AG10803	skin:	n/a
43	chrX:79270225-79270275	GM19239	blood:	n/a
44	chrX:79270225-79270275	HIPEpiC	eye:	n/a
45	chrX:79270225-79270275	ProgFib	skin:	n/a
46	chrX:79269151-79269201	HEEpiC	esophagus:	n/a
47	chrX:79269739-79269789	HCF	heart:	n/a
48	chrX:79269739-79269789	AG09309	skin:	n/a
49	chrX:79269151-79269201	RPTEC	kidney:	n/a
50	chrX:79270180-79270230	HCF	heart:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-5	chrX:79270268-79270386	NONHSAT137717

Variant related genes	Relation type
TBX22	TF binding region
TBX22	CpG island

Extended variants
information (count: 192 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141820995	chrX:79238627-79238628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs187701633	chrX:79238727-79238728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs146183129	chrX:79238731-79238732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs77676990	chrX:79238748-79238749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150612940	chrX:79238796-79238797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200336159	chrX:79238801-79238802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs113532368	chrX:79238806-79238807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112350432	chrX:79238811-79238812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200218330	chrX:79238812-79238813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77218887	chrX:79238816-79238817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183032062	chrX:79238817-79238818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201123067	chrX:79238821-79238822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112985347	chrX:79238831-79238832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186987818	chrX:79238837-79238838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200290252	chrX:79238841-79238842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4826007	chrX:79238851-79238852	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374833366	chrX:79238852-79238853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs191764620	chrX:79238882-79238883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs377597350	chrX:79238899-79238900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183175292	chrX:79238990-79238991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545445743	chrX:79265410-79265411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150938469	chrX:79265417-79265418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371053287	chrX:79265446-79265447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190846078	chrX:79265486-79265487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182343300	chrX:79265609-79265610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186573385	chrX:79265685-79265686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192948830	chrX:79265706-79265707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs5959650	chrX:79265712-79265713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150078280	chrX:79265774-79265775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56083020	chrX:79266045-79266046	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs5959651	chrX:79266105-79266106	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192827051	chrX:79266142-79266143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7059693	chrX:79266788-79266789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6621536	chrX:79266856-79266857	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192450967	chrX:79266867-79266868	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs183922390	chrX:79267062-79267063	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs1429592	chrX:79267074-79267075	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs199717886	chrX:79267102-79267103	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs199932060	chrX:79267105-79267106	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs189034212	chrX:79267122-79267123	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs73630350	chrX:79267140-79267141	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs181477189	chrX:79267309-79267310	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs369509596	chrX:79267418-79267419	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs139281497	chrX:79267538-79267539	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs186158689	chrX:79267578-79267579	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs76747634	chrX:79267597-79267598	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs202042784	chrX:79267601-79267602	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs376974507	chrX:79267609-79267610	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs199917600	chrX:79267663-79267664	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs200685555	chrX:79267664-79267665	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79238600-79239000	ZNF genes & repeats	Fetal Kidney	kidney
2	chrX:79265400-79265600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chrX:79265600-79265800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chrX:79266800-79268400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chrX:79267000-79268800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chrX:79268200-79268800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chrX:79268400-79268600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chrX:79268400-79268600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chrX:79268600-79268800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chrX:79268600-79268800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chrX:79268600-79269600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:79268800-79269600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chrX:79269200-79270400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chrX:79269400-79270000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chrX:79269600-79270800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chrX:79269600-79271800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chrX:79269800-79270400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chrX:79270000-79270200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chrX:79270000-79270600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chrX:79270000-79270800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chrX:79270200-79270400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chrX:79270200-79270600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chrX:79270400-79270600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chrX:79270600-79270800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chrX:79270800-79271000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chrX:79270800-79276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chrX:79270800-79277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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