Variant report

Variant	nsv524776
Chromosome Location	chrX:79903169-80012807
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	BACH1	chrX:80010901-80011084	K562	blood:	n/a	n/a
2	BACH1	chrX:79919125-79919158	K562	blood:	n/a	n/a
3	BATF	chrX:79923475-79923845	GM12878	blood:	n/a	chrX:79923643-79923654
4	CEBPB	chrX:79965518-79965804	IMR90	lung:	n/a	n/a
5	CEBPB	chrX:79971787-79972130	A549	lung:	n/a	chrX:79971899-79971910
6	CEBPB	chrX:79971775-79972084	IMR90	lung:	n/a	chrX:79971899-79971910
7	CEBPB	chrX:79965490-79965820	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chrX:79971765-79972063	HepG2	liver:	n/a	chrX:79971899-79971910
9	CEBPB	chrX:79924975-79925175	IMR90	lung:	n/a	chrX:79925067-79925076 chrX:79925067-79925078
10	CEBPB	chrX:80007012-80007298	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:79985983-79986225	IMR90	lung:	n/a	n/a
12	CEBPB	chrX:79965546-79965781	A549	lung:	n/a	n/a
13	CEBPB	chrX:79971816-79972070	K562	blood:	n/a	chrX:79971899-79971910
14	CEBPB	chrX:80012387-80012618	IMR90	lung:	n/a	n/a
15	CEBPB	chrX:79965493-79965838	HepG2	liver:	n/a	n/a
16	CEBPB	chrX:79922820-79923053	IMR90	lung:	n/a	chrX:79922959-79922972
17	CREB1	chrX:79923425-79923830	GM12878	blood:	n/a	n/a
18	CTCF	chrX:79932362-79932427	A549	lung:	n/a	n/a
19	CTCF	chrX:79903660-79903810	AG04450	lung:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
20	CTCF	chrX:79903640-79903790	NHLF	lung:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
21	CTCF	chrX:79903640-79903790	HMF	breast:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
22	CTCF	chrX:79903638-79903786	Kidney_OC	kidney:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
23	CTCF	chrX:79903574-79903780	A549	lung:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
24	CTCF	chrX:79903660-79903810	GM12878	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
25	CTCF	chrX:79903519-79903886	K562	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
26	CTCF	chrX:79903352-79904029	A549	lung:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
27	CTCF	chrX:79903640-79903790	GM12866	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
28	CTCF	chrX:79934692-79934802	GM20000	blood:	n/a	n/a
29	CTCF	chrX:79903660-79903810	NHEK	skin:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
30	CTCF	chrX:79996053-79996138	GM20000	blood:	n/a	n/a
31	CTCF	chrX:79903635-79903814	ProgFib	skin:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
32	CTCF	chrX:79903640-79903790	GM12864	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
33	CTCF	chrX:79963626-79963667	GM10248	blood:	n/a	n/a
34	CTCF	chrX:79976903-79976992	GM20000	blood:	n/a	n/a
35	CTCF	chrX:79903620-79903770	AG09319	gingival:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
36	CTCF	chrX:79903654-79903814	SK-N-SH_RA	brain:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
37	CTCF	chrX:79980522-79980552	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chrX:79903600-79903750	WI-38	lung:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
39	CTCF	chrX:79903680-79903830	HCPEpiC	choroid plexus:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
40	CTCF	chrX:79903560-79903710	HCT-116	colon:	n/a	n/a
41	CTCF	chrX:79903640-79903790	GM12873	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
42	CTCF	chrX:79903677-79903711	NHEK	skin:	n/a	n/a
43	CTCF	chrX:79903640-79903790	AG10803	skin:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
44	CTCF	chrX:79903240-79903390	NHEK	skin:	n/a	n/a
45	CTCF	chrX:79903617-79903807	MCF-7	breast:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
46	CTCF	chrX:79959591-79959703	ProgFib	skin:	n/a	n/a
47	CTCF	chrX:79903620-79903770	HCFaa	heart:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
48	CTCF	chrX:79903620-79903770	GM12878	blood:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716
49	CTCF	chrX:79953336-79953358	GM10248	blood:	n/a	n/a
50	CTCF	chrX:79903620-79903770	HAc	cerebellar:	n/a	chrX:79903694-79903715 chrX:79903699-79903717 chrX:79903704-79903712 chrX:79903700-79903716

No.	Distal block	Cell Line	Cell type
1	chrX:79945916..79948256-chrX:79950332..79951865,2	K562	blood:
2	chrX:79987929..79989580-chrX:79990479..79992508,2	K562	blood:
3	chrX:79537779..79538289-chrX:79903212..79904194,2	K562	blood:
4	chrX:79806226..79806865-chrX:79903226..79903832,2	MCF-7	breast:
5	chrX:79833900..79834805-chrX:79903150..79903788,2	MCF-7	breast:
6	chrX:79939388..79942339-chrX:80064753..80066960,2	K562	blood:
7	chrX:79983222..79984949-chrX:79986691..79988254,2	MCF-7	breast:
8	chrX:79983222..79984949-chrX:79986691..79988254,2	MCF-7	breast:
9	chrX:79987929..79989580-chrX:79990479..79992508,2	K562	blood:
10	chrX:79945916..79948256-chrX:79950332..79951865,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-4	chrX:79965427-79966204	NONHSAT137725
2	lnc-HMGN5-3	chrX:79927172-79929717	NONHSAT137724
3	lnc-FAM46D-3	chrX:79924144-79924376	NONHSAT137723

Variant related genes	Relation type
ENSG00000225715	TF binding region
BRWD3	TF binding region
ENSG00000165288	chromatin interactions

Extended variants
information (count: 1257 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1257 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181168331	chrX:79906208-79906209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs139987037	chrX:79906234-79906235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184654596	chrX:79906239-79906240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs4826187	chrX:79906258-79906259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111461268	chrX:79906263-79906264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs4826188	chrX:79906372-79906373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189201741	chrX:79906373-79906374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551432007	chrX:79920118-79920119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563761851	chrX:79920211-79920212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189932958	chrX:79920554-79920555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181388898	chrX:79920575-79920576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199799955	chrX:79920590-79920591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370802544	chrX:79920664-79920665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184826892	chrX:79920678-79920679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56140934	chrX:79920728-79920729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189237331	chrX:79920743-79920744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181595728	chrX:79920750-79920751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7876191	chrX:79920885-79920886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186454600	chrX:79920920-79920921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190882244	chrX:79921105-79921106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149016187	chrX:79921220-79921221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73225384	chrX:79921467-79921468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372900452	chrX:79921516-79921517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376862497	chrX:79921582-79921583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180938591	chrX:79921854-79921855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138263043	chrX:79922005-79922006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4826189	chrX:79922080-79922081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377739689	chrX:79922178-79922179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185831379	chrX:79922224-79922225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144945577	chrX:79922378-79922379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35544117	chrX:79922483-79922484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190935001	chrX:79922521-79922522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373929669	chrX:79922641-79922642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73225387	chrX:79922658-79922659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6622354	chrX:79922667-79922668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531123394	chrX:79922810-79922811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564073280	chrX:79922942-79922943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73225388	chrX:79923086-79923087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549457428	chrX:79923230-79923231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183130800	chrX:79923246-79923247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374949347	chrX:79923303-79923304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7885961	chrX:79923354-79923355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186481419	chrX:79923380-79923381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138024869	chrX:79923431-79923432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112935326	chrX:79923476-79923477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190678351	chrX:79923665-79923666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149546692	chrX:79923679-79923680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182718593	chrX:79923746-79923747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79358093	chrX:79924053-79924054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17174132	chrX:79924073-79924074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:38)

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

Chromatin state (count:1068 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79906200-79906400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chrX:79920000-79923000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chrX:79921200-79921400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chrX:79921400-79934200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chrX:79922800-79937200	Weak transcription	HSMM	muscle
6	chrX:79922800-79949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chrX:79923000-79923200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chrX:79923000-79931000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chrX:79923000-79934200	Weak transcription	Adipose Nuclei	Adipose
10	chrX:79923200-79935600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chrX:79925600-79943000	Weak transcription	Osteobl	bone
12	chrX:79926200-79978000	Weak transcription	NH-A	brain
13	chrX:79926400-79928600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chrX:79926800-79931000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chrX:79926800-79932200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chrX:79927400-79931200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chrX:79927400-79931800	Weak transcription	Liver	Liver
18	chrX:79927400-79933600	Weak transcription	Left Ventricle	heart
19	chrX:79927600-79931200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chrX:79927800-79930000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chrX:79928600-79929600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chrX:79928600-79930200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chrX:79928600-79955000	Weak transcription	Hela-S3	cervix
24	chrX:79928600-79962000	Weak transcription	Fetal Brain Female	brain
25	chrX:79928800-79930400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chrX:79928800-79931600	Weak transcription	Duodenum Mucosa	Duodenum
27	chrX:79928800-79931800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chrX:79928800-79933800	Weak transcription	Primary hematopoietic stem cells	blood
29	chrX:79928800-79954000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chrX:79929000-79931400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chrX:79929000-79934400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chrX:79929000-79949600	Weak transcription	Brain Angular Gyrus	brain
33	chrX:79929400-79931000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chrX:79929400-79931000	Weak transcription	Dnd41	blood
35	chrX:79929400-79931200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chrX:79929600-79930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chrX:79929600-79931200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chrX:79929600-79931600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chrX:79929600-79932200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chrX:79929600-79935800	Weak transcription	Placenta	Placenta
41	chrX:79929800-79931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chrX:79929800-79932000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chrX:79929800-79949400	Weak transcription	Fetal Muscle Trunk	muscle
44	chrX:79930000-79930200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chrX:79930000-79931600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chrX:79930000-79931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chrX:79930000-79931600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chrX:79930000-79931600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chrX:79930000-79931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chrX:79930000-79931600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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