Variant report

Variant	nsv519126
Chromosome Location	chrX:78586744-78629178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:282)
CpG islands
(count:428)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:78619848-78620082	HepG2	liver:	n/a	n/a
2	BACH1	chrX:78622927-78623123	K562	blood:	n/a	n/a
3	BHLHE40	chrX:78623624-78623797	GM12878	blood:	n/a	n/a
4	BHLHE40	chrX:78622383-78623243	GM12878	blood:	n/a	n/a
5	BHLHE40	chrX:78622320-78623349	K562	blood:	n/a	n/a
6	CBX3	chrX:78622932-78623236	K562	blood:	n/a	n/a
7	CCNT2	chrX:78622220-78623187	K562	blood:	n/a	chrX:78622571-78622580
8	CEBPB	chrX:78622947-78623197	K562	blood:	n/a	n/a
9	CEBPB	chrX:78611876-78612152	K562	blood:	n/a	n/a
10	CEBPB	chrX:78619906-78620219	K562	blood:	n/a	n/a
11	CEBPB	chrX:78619864-78620174	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:78622768-78623232	K562	blood:	n/a	n/a
13	CEBPD	chrX:78622834-78623339	K562	blood:	n/a	n/a
14	CEBPD	chrX:78622727-78623240	K562	blood:	n/a	n/a
15	CHD1	chrX:78622375-78622514	GM12878	blood:	n/a	n/a
16	CHD1	chrX:78623554-78623726	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chrX:78622531-78623135	K562	blood:	n/a	n/a
18	CHD2	chrX:78622198-78623135	GM12878	blood:	n/a	n/a
19	CHD2	chrX:78622236-78622765	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chrX:78622643-78623298	K562	blood:	n/a	n/a
21	CREB1	chrX:78622293-78623248	GM12878	blood:	n/a	n/a
22	CTBP2	chrX:78622157-78623040	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrX:78590871-78590961	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chrX:78622380-78622530	GM06990	blood:	n/a	n/a
25	CTCF	chrX:78622380-78622530	GM12870	blood:	n/a	n/a
26	CTCF	chrX:78622388-78622588	K562	blood:	n/a	n/a
27	CTCF	chrX:78590859-78591067	GM12878	blood:	n/a	n/a
28	CTCF	chrX:78605746-78605813	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chrX:78622880-78623030	GM12875	blood:	n/a	n/a
30	CTCF	chrX:78622354-78622516	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chrX:78622520-78622670	GM12866	blood:	n/a	n/a
32	CTCF	chrX:78623579-78623601	GM10266	blood:	n/a	n/a
33	CTCF	chrX:78622400-78622550	GM12867	blood:	n/a	n/a
34	CTCF	chrX:78622880-78623030	GM12866	blood:	n/a	n/a
35	CTCF	chrX:78590848-78590991	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:78622167-78622585	GM12878	blood:	n/a	chrX:78622241-78622250
37	CTCF	chrX:78622320-78622470	GM12871	blood:	n/a	n/a
38	CTCF	chrX:78623460-78623610	GM12873	blood:	n/a	n/a
39	CTCF	chrX:78622965-78623035	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chrX:78590907-78590974	MCF-7	breast:	n/a	n/a
41	CTCF	chrX:78622336-78622446	A549	lung:	n/a	n/a
42	CTCF	chrX:78622400-78622550	GM12866	blood:	n/a	n/a
43	CTCF	chrX:78610145-78610227	GM10248	blood:	n/a	n/a
44	CTCF	chrX:78622362-78622729	GM19239	blood:	n/a	n/a
45	CTCF	chrX:78622400-78622550	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chrX:78622320-78622470	GM12873	blood:	n/a	n/a
47	CTCF	chrX:78622380-78622530	GM12869	blood:	n/a	n/a
48	CTCF	chrX:78611226-78611279	ProgFib	skin:	n/a	n/a
49	CTCF	chrX:78622340-78622490	GM12874	blood:	n/a	n/a
50	CTCF	chrX:78622389-78622409	GM19238	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:78624108-78624158	H1-hESC	embryonic stem cell:	embryo
2	chrX:78624108-78624158	H1-hESC	embryonic stem cell:	embryo
3	chrX:78623956-78624006	HCPEpiC	choroid plexus:	n/a
4	chrX:78623745-78623795	AG09309	skin:	n/a
5	chrX:78624108-78624158	NH-A	brain:	n/a
6	chrX:78623020-78623070	PANC-1	pancreas:	n/a
7	chrX:78622682-78622732	Hepatocyte	liver:	n/a
8	chrX:78623020-78623070	ovcar-3	ovarian:	n/a
9	chrX:78622565-78622615	HCPEpiC	choroid plexus:	n/a
10	chrX:78622682-78622732	PrEC	prostate:	n/a
11	chrX:78624108-78624158	PANC-1	pancreas:	n/a
12	chrX:78622565-78622615	Jurkat	blood:	n/a
13	chrX:78622859-78622909	MCF-7	breast:	n/a
14	chrX:78622565-78622615	U87	brain:	n/a
15	chrX:78622565-78622615	MCF10A-Er-Src	breast:	n/a
16	chrX:78624108-78624158	ProgFib	skin:	n/a
17	chrX:78623745-78623795	NH-A	brain:	n/a
18	chrX:78622859-78622909	Jurkat	blood:	n/a
19	chrX:78623956-78624006	SAEC	small airway:	n/a
20	chrX:78622859-78622909	HCM	heart:	n/a
21	chrX:78623956-78624006	PFSK-1	brain:	n/a
22	chrX:78623745-78623795	NHDF-neo	bronchial:	n/a
23	chrX:78622682-78622732	RPTEC	kidney:	n/a
24	chrX:78623020-78623070	NT2-D1	testis:	n/a
25	chrX:78623956-78624006	A549	lung:	n/a
26	chrX:78623745-78623795	HepG2	liver:	n/a
27	chrX:78623956-78624006	HepG2	liver:	n/a
28	chrX:78623745-78623795	NB4	blood:	n/a
29	chrX:78623020-78623070	A549	lung:	n/a
30	chrX:78624108-78624158	GM19239	blood:	n/a
31	chrX:78622565-78622615	NHDF-neo	bronchial:	n/a
32	chrX:78623020-78623070	AG10803	skin:	n/a
33	chrX:78622682-78622732	AG04450	lung:	fetal
34	chrX:78623956-78624006	HPAEpiC	pulmonary alveolar:	n/a
35	chrX:78622565-78622615	NH-A	brain:	n/a
36	chrX:78624108-78624158	SK-N-MC	brain:	n/a
37	chrX:78622682-78622732	LNCaP	prostate:	n/a
38	chrX:78622859-78622909	PANC-1	pancreas:	n/a
39	chrX:78623956-78624006	GM12891	blood:	n/a
40	chrX:78622682-78622732	HUVEC	blood vessel:	n/a
41	chrX:78622682-78622732	K562	blood:	n/a
42	chrX:78622682-78622732	AG09309	skin:	n/a
43	chrX:78623956-78624006	HNPCEpiC	eye:	n/a
44	chrX:78622565-78622615	HPAEpiC	pulmonary alveolar:	n/a
45	chrX:78624108-78624158	HL-60	blood:	n/a
46	chrX:78622859-78622909	MCF10A-Er-Src	breast:	n/a
47	chrX:78622859-78622909	SKMC	muscle:	n/a
48	chrX:78622682-78622732	GM12891	blood:	n/a
49	chrX:78624108-78624158	HAEpiC	amniotic membrane:	n/a
50	chrX:78623020-78623070	HCT-116	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:78612180..78614323-chrX:78618566..78621520,2	K562	blood:
2	chrX:78613371..78615323-chrX:78622479..78624740,2	K562	blood:
3	chrX:78615804..78618128-chrX:78622582..78624536,2	K562	blood:
4	chrX:78600900..78603777-chrX:78604763..78607370,2	MCF-7	breast:
5	chrX:78600900..78603777-chrX:78604763..78607370,2	MCF-7	breast:
6	chrX:78611688..78613722-chrX:78621637..78623492,2	K562	blood:
7	chrX:78615570..78618200-chrX:78620529..78622334,2	K562	blood:
8	chrX:78615570..78618200-chrX:78620529..78622334,2	K562	blood:
9	chrX:78623909..78625908-chrX:78627039..78629119,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITM2A-2	chrX:78624861-78625662	NONHSAT137716

No data

Variant related genes	Relation type
ENSG00000270268	TF binding region
ITM2A	TF binding region
ENSG00000270268	CpG island
ITM2A	CpG island
ENSG00000270268	chromatin interactions
ENSG00000078596	chromatin interactions

Extended variants
information (count: 615 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5959303	chrX:78586744-78586745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527361062	chrX:78586789-78586790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73233281	chrX:78586939-78586940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35383693	chrX:78586978-78586979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186168078	chrX:78587061-78587062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563917510	chrX:78587070-78587071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368993078	chrX:78587090-78587091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190988970	chrX:78587138-78587139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183305897	chrX:78587149-78587150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185830953	chrX:78587193-78587194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531296880	chrX:78587274-78587275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs68077400	chrX:78587282-78587283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375105330	chrX:78587323-78587324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2223266	chrX:78587408-78587409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145616907	chrX:78587439-78587440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190686549	chrX:78587511-78587512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147668126	chrX:78587576-78587577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183166077	chrX:78587577-78587578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6619915	chrX:78587587-78587588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs13441063	chrX:78587795-78587796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73233282	chrX:78587951-78587952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370085366	chrX:78588024-78588025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148954555	chrX:78588033-78588034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143573072	chrX:78588050-78588051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73233283	chrX:78588075-78588076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5912899	chrX:78588118-78588119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376073052	chrX:78588141-78588142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144857245	chrX:78588146-78588147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187897094	chrX:78588194-78588195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374075593	chrX:78588226-78588227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567874147	chrX:78588305-78588306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376611056	chrX:78588315-78588316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6619919	chrX:78588325-78588326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6652327	chrX:78588457-78588458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552596535	chrX:78588461-78588462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200474537	chrX:78588489-78588490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574026987	chrX:78588503-78588504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187889332	chrX:78588602-78588603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570758330	chrX:78588629-78588630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538210584	chrX:78588666-78588667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75948646	chrX:78588689-78588690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77098040	chrX:78588690-78588691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75753341	chrX:78588691-78588692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192668278	chrX:78588695-78588696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2223265	chrX:78588805-78588806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535673702	chrX:78588813-78588814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185060944	chrX:78589026-78589027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535280775	chrX:78589053-78589054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73629302	chrX:78589066-78589067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72063210	chrX:78589067-78589068	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:78585600-78592600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:78592000-78592600	Enhancers	Primary T cells from cord blood	blood
3	chrX:78592200-78592600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chrX:78592200-78592800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chrX:78592200-78592800	Enhancers	Dnd41	blood
6	chrX:78592200-78593000	Enhancers	Fetal Thymus	thymus
7	chrX:78592200-78593200	Enhancers	Thymus	Thymus
8	chrX:78592400-78592600	Enhancers	Primary T cells fromperipheralblood	blood
9	chrX:78592400-78592600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chrX:78592400-78592600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chrX:78592400-78592600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chrX:78592600-78592800	Enhancers	Primary B cells from peripheral blood	blood
13	chrX:78592600-78592800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chrX:78592600-78592800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chrX:78592600-78592800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chrX:78592600-78592800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:78592600-78593000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chrX:78592600-78593000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chrX:78592600-78593000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chrX:78592600-78593200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chrX:78592600-78593600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chrX:78592600-78594400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chrX:78592800-78593000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chrX:78592800-78593200	Active TSS	Primary B cells from peripheral blood	blood
25	chrX:78592800-78593200	Active TSS	Primary hematopoietic stem cells	blood
26	chrX:78592800-78593200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chrX:78592800-78593200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chrX:78592800-78593200	Active TSS	Primary T helper cells fromperipheralblood	blood
29	chrX:78592800-78593200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chrX:78592800-78593200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chrX:78592800-78593200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chrX:78592800-78593200	Flanking Active TSS	Dnd41	blood
33	chrX:78592800-78593200	Active TSS	Monocytes-CD14+_RO01746	blood
34	chrX:78592800-78593400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chrX:78593000-78593200	Active TSS	Primary T cells fromperipheralblood	blood
36	chrX:78593000-78593400	Active TSS	Primary T cells from cord blood	blood
37	chrX:78593000-78593400	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chrX:78593200-78593600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chrX:78593200-78594200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chrX:78593200-78594400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chrX:78593200-78594600	Enhancers	Dnd41	blood
42	chrX:78593200-78598400	Weak transcription	Primary B cells from peripheral blood	blood
43	chrX:78593200-78598800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chrX:78593400-78593600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chrX:78593400-78594600	Enhancers	Primary T cells from cord blood	blood
46	chrX:78594200-78594400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chrX:78608000-78615000	Weak transcription	Primary T cells from cord blood	blood
48	chrX:78609000-78610600	Weak transcription	Fetal Muscle Trunk	muscle
49	chrX:78609800-78611600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chrX:78610200-78610400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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