Variant report

Variant	nsv520455
Chromosome Location	chrX:57942553-58005591
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	BHLHE40	chrX:57955935-57956090	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:57953013-57953307	HepG2	liver:	n/a	chrX:57953143-57953154
3	CEBPB	chrX:57962480-57962752	IMR90	lung:	n/a	n/a
4	CEBPB	chrX:57994418-57994618	A549	lung:	n/a	chrX:57994521-57994532
5	CEBPB	chrX:57945472-57945717	A549	lung:	n/a	n/a
6	CEBPB	chrX:57952971-57953308	IMR90	lung:	n/a	chrX:57953143-57953154
7	CEBPB	chrX:57962544-57962713	HepG2	liver:	n/a	n/a
8	CEBPB	chrX:57953058-57953330	A549	lung:	n/a	chrX:57953143-57953154
9	CEBPB	chrX:57945455-57945799	IMR90	lung:	n/a	n/a
10	CEBPB	chrX:57964040-57964120	HepG2	liver:	n/a	chrX:57964043-57964054
11	CEBPB	chrX:57994485-57994695	K562	blood:	n/a	chrX:57994521-57994532
12	CEBPB	chrX:57994388-57994664	HepG2	liver:	n/a	chrX:57994521-57994532
13	CEBPB	chrX:57963983-57964102	IMR90	lung:	n/a	chrX:57964043-57964054
14	CEBPB	chrX:57994380-57994646	IMR90	lung:	n/a	chrX:57994521-57994532
15	CEBPB	chrX:57945461-57945819	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chrX:57959422-57959632	HepG2	liver:	n/a	chrX:57959478-57959487 chrX:57959478-57959489 chrX:57959476-57959487 chrX:57959476-57959489
17	CTCF	chrX:58004314-58004357	GM19239	blood:	n/a	n/a
18	CTCF	chrX:57945640-57945790	GM12874	blood:	n/a	n/a
19	CTCF	chrX:57945880-57946030	HCT-116	colon:	n/a	n/a
20	CTCF	chrX:57955920-57956070	GM12878	blood:	n/a	n/a
21	CTCF	chrX:57945600-57945750	GM12871	blood:	n/a	n/a
22	CTCF	chrX:58004540-58004690	HEK293	kidney:	n/a	chrX:58004619-58004640
23	CTCF	chrX:58004540-58004690	Hela-S3	cervix:	n/a	chrX:58004619-58004640
24	CTCF	chrX:57945297-57946017	A549	lung:	n/a	n/a
25	CTCF	chrX:57955920-57956070	NB4	blood:	n/a	n/a
26	CTCF	chrX:57955920-57956070	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chrX:57945680-57945830	AG09309	skin:	n/a	n/a
28	CTCF	chrX:57955920-57956070	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chrX:57956020-57956170	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chrX:57955880-57956030	HFF	foreskin:	n/a	n/a
31	CTCF	chrX:57945660-57945810	GM12875	blood:	n/a	n/a
32	CTCF	chrX:57955842-57956177	A549	lung:	n/a	n/a
33	CTCF	chrX:57945660-57945810	HMEC	breast:	n/a	n/a
34	CTCF	chrX:57945660-57945810	NHLF	lung:	n/a	n/a
35	CTCF	chrX:57945640-57945790	Caco-2	colon:	n/a	n/a
36	CTCF	chrX:57945640-57945790	GM06990	blood:	n/a	n/a
37	CTCF	chrX:58004524-58004715	MCF-7	breast:	n/a	chrX:58004619-58004640
38	CTCF	chrX:57955900-57956050	HCM	heart:	n/a	n/a
39	CTCF	chrX:57945640-57945790	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chrX:57955804-57956292	GM12878	blood:	n/a	n/a
41	CTCF	chrX:57945587-57945822	Fibrobl	skin:	n/a	n/a
42	CTCF	chrX:57955590-57956438	SK-N-SH	brain:	n/a	n/a
43	CTCF	chrX:57945640-57945790	AG04450	lung:	n/a	n/a
44	CTCF	chrX:57945640-57945790	AG09309	skin:	n/a	n/a
45	CTCF	chrX:57955920-57956070	GM12866	blood:	n/a	n/a
46	CTCF	chrX:57955960-57956110	HCFaa	heart:	n/a	n/a
47	CTCF	chrX:57945580-57945730	HVMF	connective:	n/a	n/a
48	CTCF	chrX:57953421-57953514	HepG2	liver:	n/a	n/a
49	CTCF	chrX:57955940-57956090	BJ	skin:	n/a	n/a
50	CTCF	chrX:57955960-57956110	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:58004194..58004775-chrX:58052093..58052663,2	MCF-7	breast:
2	chrX:57847837..57849053-chrX:57955600..57956476,4	MCF-7	breast:
3	chr1:40362047..40364220-chrX:57958759..57960282,2	K562	blood:
4	chrX:57948864..57951056-chrX:57951478..57953286,2	MCF-7	breast:
5	chrX:57848200..57848796-chrX:57944842..57945766,2	MCF-7	breast:
6	chrX:57935560..57938682-chrX:57951246..57953020,3	MCF-7	breast:
7	chrX:57948864..57951056-chrX:57951478..57953286,2	MCF-7	breast:
8	chrX:57847902..57848941-chrX:57955530..57956361,5	MCF-7	breast:
9	chr1:40362047..40364934-chrX:57958759..57961762,4	K562	blood:
10	chrX:57847901..57848958-chrX:57945372..57946185,3	MCF-7	breast:
11	chrX:58004467..58005037-chrX:58052208..58053008,2	MCF-7	breast:
12	chrX:57599875..57600849-chrX:57955568..57956254,2	MCF-7	breast:
13	chrX:57848736..57850264-chrX:57955258..57957705,2	MCF-7	breast:

Variant related genes	Relation type
MYCLP2	TF binding region
ENSG00000236546	chromatin interactions
ENSG00000198205	chromatin interactions

Extended variants
information (count: 313 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144161232	chrX:57944868-57944869	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs200662487	chrX:57944881-57944882	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs112737950	chrX:57945213-57945214	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140242169	chrX:57945228-57945229	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376285149	chrX:57945319-57945320	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189227628	chrX:57945329-57945330	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs180756664	chrX:57945346-57945347	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs576577174	chrX:57945459-57945460	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs5988687	chrX:57945552-57945553	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186519179	chrX:57945564-57945565	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557480359	chrX:57945665-57945666	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373388392	chrX:57945666-57945667	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35084237	chrX:57945680-57945681	Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150056138	chrX:57945816-57945817	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs35792199	chrX:57945877-57945878	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs190957376	chrX:57945889-57945890	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs183207787	chrX:57945907-57945908	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs186116044	chrX:57945909-57945910	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs570080222	chrX:57945922-57945923	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs34302794	chrX:57945989-57945990	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs34876157	chrX:57945993-57945994	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs145360926	chrX:57946002-57946003	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs149183928	chrX:57946008-57946009	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs74576355	chrX:57946024-57946025	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs191677862	chrX:57946040-57946041	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs143290792	chrX:57946073-57946074	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs374626341	chrX:57946137-57946138	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs146804355	chrX:57946141-57946142	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs183075025	chrX:57946188-57946189	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs386825375	chrX:57946195-57946196	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs188157206	chrX:57946198-57946199	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs192435261	chrX:57946201-57946202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57737088	chrX:57946204-57946205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182150907	chrX:57946350-57946351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187917439	chrX:57946434-57946435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192480098	chrX:57946760-57946761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138192712	chrX:57946846-57946847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5988945	chrX:57946887-57946888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184525042	chrX:57946966-57946967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140409765	chrX:57946980-57946981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150368025	chrX:57947075-57947076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138047436	chrX:57947176-57947177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377361971	chrX:57947191-57947192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149498324	chrX:57947303-57947304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72621739	chrX:57947410-57947411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188971259	chrX:57947659-57947660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193039254	chrX:57947765-57947766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138767147	chrX:57947773-57947774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184858216	chrX:57947901-57947902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189750694	chrX:57947921-57947922	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Ovarian cancer	19835627	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57944800-57945600	Bivalent Enhancer	Adipose Nuclei	Adipose
2	chrX:57945000-57945200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chrX:57945000-57945200	Flanking Active TSS	Pancreas	Pancrea
4	chrX:57945000-57945200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
5	chrX:57945000-57945200	Enhancers	A549	lung
6	chrX:57945000-57945600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chrX:57945000-57945600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chrX:57945000-57948600	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chrX:57945200-57945400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chrX:57945200-57945600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chrX:57945200-57945600	Active TSS	Pancreas	Pancrea
12	chrX:57945200-57945600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
13	chrX:57945200-57945800	Active TSS	A549	lung
14	chrX:57945400-57945600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chrX:57945600-57946200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chrX:57945800-57946000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chrX:57946200-57947600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chrX:57946400-57947200	Enhancers	Fetal Muscle Leg	muscle
19	chrX:57947200-57947600	Weak transcription	Fetal Muscle Leg	muscle
20	chrX:57947600-57948800	Enhancers	Fetal Muscle Leg	muscle
21	chrX:57947600-57949600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chrX:57948600-57958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chrX:57958800-57959200	Enhancers	Left Ventricle	heart
24	chrX:57958800-57959400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chrX:57959000-57960800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chrX:57959400-57959800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chrX:57959800-57960000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chrX:57977000-57977600	Enhancers	Dnd41	blood
29	chrX:57977000-57979400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chrX:57977000-57979800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chrX:57977000-57979800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chrX:57977200-57977800	Enhancers	Primary B cells from cord blood	blood
33	chrX:57977200-57979400	Enhancers	Primary B cells from peripheral blood	blood
34	chrX:57977400-57977800	Enhancers	Primary hematopoietic stem cells	blood
35	chrX:57977600-57978000	Enhancers	Adipose Nuclei	Adipose
36	chrX:57977600-57978000	Flanking Active TSS	Dnd41	blood
37	chrX:57977600-57978200	Enhancers	Spleen	Spleen
38	chrX:57977600-57979000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chrX:57977800-57978800	Enhancers	Left Ventricle	heart
40	chrX:57977800-57979000	Weak transcription	Primary hematopoietic stem cells	blood
41	chrX:57978000-57978400	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chrX:57978000-57978400	Enhancers	Dnd41	blood
43	chrX:57978000-57978800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chrX:57978000-57979200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chrX:57978200-57978600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chrX:57978200-57978600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chrX:57978200-57978800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chrX:57978200-57978800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chrX:57978200-57979200	Weak transcription	Spleen	Spleen
50	chrX:57978400-57978800	Flanking Active TSS	Dnd41	blood

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