Variant report

Variant	nsv482267
Chromosome Location	chrX:138669319-138817041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:1162)
Chromatin interactive
region (count:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:295 , 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	BACH1	chrX:138803172-138803524	K562	blood:	n/a	n/a
2	BACH1	chrX:138803157-138803536	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chrX:138729786-138730024	GM12878	blood:	n/a	n/a
4	BATF	chrX:138729826-138730115	GM12878	blood:	n/a	n/a
5	BHLHE40	chrX:138807806-138808264	GM12878	blood:	n/a	n/a
6	CEBPB	chrX:138766959-138767192	K562	blood:	n/a	n/a
7	CEBPB	chrX:138766963-138767179	IMR90	lung:	n/a	n/a
8	CEBPB	chrX:138698765-138699049	HepG2	liver:	n/a	chrX:138698893-138698904
9	CEBPB	chrX:138795335-138795445	K562	blood:	n/a	n/a
10	CEBPB	chrX:138700503-138700710	K562	blood:	n/a	n/a
11	CEBPB	chrX:138698838-138699213	IMR90	lung:	n/a	chrX:138698893-138698904
12	CEBPB	chrX:138700454-138700703	IMR90	lung:	n/a	n/a
13	CEBPB	chrX:138770099-138770270	HepG2	liver:	n/a	chrX:138770183-138770194
14	CTCF	chrX:138678267-138678594	K562	blood:	n/a	n/a
15	CTCF	chrX:138753100-138753231	GM10266	blood:	n/a	n/a
16	CTCF	chrX:138678300-138678450	Caco-2	colon:	n/a	n/a
17	CTCF	chrX:138678380-138678530	Caco-2	colon:	n/a	n/a
18	CTCF	chrX:138687821-138687887	LNCaP	prostate:	n/a	n/a
19	CTCF	chrX:138678316-138678400	LNCaP	prostate:	n/a	n/a
20	CTCF	chrX:138796145-138796166	GM10248	blood:	n/a	n/a
21	CTCF	chrX:138678317-138678508	K562	blood:	n/a	n/a
22	CTCF	chrX:138707651-138707704	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chrX:138786500-138786567	Lung_OC	lung:	n/a	n/a
24	CTCF	chrX:138709309-138709412	GM20000	blood:	n/a	n/a
25	CTCF	chrX:138743876-138743903	GM10248	blood:	n/a	n/a
26	CTCF	chrX:138774060-138774210	NHEK	skin:	n/a	n/a
27	CTCF	chrX:138737562-138737634	GM20000	blood:	n/a	n/a
28	CTCF	chrX:138746696-138746699	GM20000	blood:	n/a	n/a
29	CTCF	chrX:138678234-138678582	MCF-7	breast:	n/a	n/a
30	CTCF	chrX:138678321-138678507	MCF-7	breast:	n/a	n/a
31	CTCF	chrX:138736008-138736062	GM20000	blood:	n/a	n/a
32	CTCF	chrX:138737154-138737206	GM10266	blood:	n/a	n/a
33	CTCF	chrX:138679632-138679663	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:138705570-138705601	GM10248	blood:	n/a	n/a
35	CTCF	chrX:138678458-138678491	HepG2	liver:	n/a	n/a
36	CTCF	chrX:138814631-138814672	GM10248	blood:	n/a	n/a
37	CTCF	chrX:138743838-138743869	GM10248	blood:	n/a	n/a
38	CTCF	chrX:138752760-138752856	GM10248	blood:	n/a	n/a
39	CTCF	chrX:138788150-138788221	GM20000	blood:	n/a	n/a
40	CTCF	chrX:138747795-138747805	GM10248	blood:	n/a	n/a
41	CTCF	chrX:138751863-138751956	LNCaP	prostate:	n/a	n/a
42	CTCF	chrX:138754863-138754958	GM10248	blood:	n/a	n/a
43	CTCF	chrX:138787404-138787426	A549	lung:	n/a	n/a
44	CTCF	chrX:138684695-138684744	GM10248	blood:	n/a	n/a
45	CTCF	chrX:138746289-138746306	Medullo	brain:	n/a	n/a
46	CTCF	chrX:138696257-138696347	GM10248	blood:	n/a	n/a
47	CTCF	chrX:138672027-138672112	GM20000	blood:	n/a	n/a
48	CTCF	chrX:138794848-138794863	Medullo	brain:	n/a	n/a
49	CTCF	chrX:138697335-138697384	GM10266	blood:	n/a	n/a
50	CTCF	chrX:138724480-138724630	GM12867	blood:	n/a	n/a

(count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:138771271-138771321	HPAEpiC	pulmonary alveolar:	n/a
2	chrX:138726210-138726260	HepG2	liver:	n/a
3	chrX:138725077-138725127	BE2_C	brain:	n/a
4	chrX:138771271-138771321	HPAEpiC	pulmonary alveolar:	n/a
5	chrX:138726210-138726260	HepG2	liver:	n/a
6	chrX:138725077-138725127	BE2_C	brain:	n/a
7	chrX:138775076-138775126	ECC-1	luminal epithelium:	n/a
8	chrX:138777468-138777518	SK-N-SH_RA	brain:	n/a
9	chrX:138769193-138769243	HIPEpiC	eye:	n/a
10	chrX:138775076-138775126	IMR90	lung:	fetal
11	chrX:138774239-138774289	SKMC	muscle:	n/a
12	chrX:138810080-138810130	ProgFib	skin:	n/a
13	chrX:138810080-138810130	Hela-S3	cervix:	n/a
14	chrX:138771271-138771321	SAEC	small airway:	n/a
15	chrX:138810080-138810130	NH-A	brain:	n/a
16	chrX:138725077-138725127	HepG2	liver:	n/a
17	chrX:138725077-138725127	SK-N-SH_RA	brain:	n/a
18	chrX:138773906-138773956	AG10803	skin:	n/a
19	chrX:138774368-138774418	NHBE	bronchial:	n/a
20	chrX:138774239-138774289	GM12892	blood:	n/a
21	chrX:138774601-138774651	A549	lung:	n/a
22	chrX:138774601-138774651	LNCaP	prostate:	n/a
23	chrX:138774601-138774651	HRPEpiC	eye:	n/a
24	chrX:138774368-138774418	AG04449	skin:	fetal
25	chrX:138724737-138724787	BE2_C	brain:	n/a
26	chrX:138774080-138774130	HUVEC	blood vessel:	n/a
27	chrX:138726210-138726260	SK-N-SH_RA	brain:	n/a
28	chrX:138769193-138769243	HPAEpiC	pulmonary alveolar:	n/a
29	chrX:138773906-138773956	SK-N-SH_RA	brain:	n/a
30	chrX:138777468-138777518	AG09309	skin:	n/a
31	chrX:138771271-138771321	HMEC	breast:	n/a
32	chrX:138771271-138771321	NHDF-neo	bronchial:	n/a
33	chrX:138773906-138773956	GM19239	blood:	n/a
34	chrX:138726210-138726260	GM19239	blood:	n/a
35	chrX:138724737-138724787	NHDF-neo	bronchial:	n/a
36	chrX:138774080-138774130	HCM	heart:	n/a
37	chrX:138775076-138775126	GM12891	blood:	n/a
38	chrX:138774347-138774397	CMK	blood:	n/a
39	chrX:138791201-138791251	PrEC	prostate:	n/a
40	chrX:138791201-138791251	U87	brain:	n/a
41	chrX:138774601-138774651	BE2_C	brain:	n/a
42	chrX:138774601-138774651	PFSK-1	brain:	n/a
43	chrX:138771271-138771321	T-47D	breast:	n/a
44	chrX:138774347-138774397	ovcar-3	ovarian:	n/a
45	chrX:138810080-138810130	HEEpiC	esophagus:	n/a
46	chrX:138725077-138725127	AG09319	gingival:	n/a
47	chrX:138810080-138810130	ovcar-3	ovarian:	n/a
48	chrX:138774347-138774397	PFSK-1	brain:	n/a
49	chrX:138791201-138791251	H1-hESC	embryonic stem cell:	embryo
50	chrX:138771271-138771321	Hela-S3	cervix:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:138780853..138782400-chrX:138782556..138784629,2	K562	blood:
2	chrX:138802582..138804803-chrX:138805180..138807085,2	K562	blood:
3	chrX:138816237..138818464-chrX:139013514..139016259,2	K562	blood:
4	chrX:138728097..138730881-chrX:138732263..138735199,2	K562	blood:
5	chrX:138772808..138775259-chrX:139014635..139016368,2	MCF-7	breast:
6	chrX:138802582..138804803-chrX:138805180..138807085,2	K562	blood:
7	chrX:138811022..138813600-chrX:139014238..139016088,2	MCF-7	breast:
8	chrX:138687922..138690086-chrX:138692229..138695171,2	MCF-7	breast:
9	chrX:138796802..138798801-chrX:138817390..138820201,2	K562	blood:
10	chrX:138682422..138685365-chrX:138686957..138689582,2	K562	blood:
11	chrX:138728097..138730881-chrX:138732263..138735199,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP11C-1	chrX:138695375-138695422	NONHSAT138779
2	lnc-ATP11C-1	chrX:138697040-138697109	NONHSAT138779
3	lnc-ATP11C-1	chrX:138689343-138689938	NONHSAT138779
4	lnc-ATP11C-1	chrX:138692460-138692497	NONHSAT138779

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	ATP11C	hsa-miR-9-5p	chrX:138812143-138812137
2	ATP11C	hsa-miR-9-5p	chrX:138810940-138810961
3	ATP11C	hsa-miR-9-5p	chrX:138809455-138809449

Variant related genes	Relation type
ENSG00000216114	TF binding region
MCF2	TF binding region
ENSG00000238485	TF binding region
ENSG00000216114	CpG island
MCF2	CpG island
ENSG00000238485	CpG island
ENSG00000238485	chromatin interactions
ENSG00000101974	chromatin interactions
ENSG00000101977	chromatin interactions

Extended variants
information (count: 1355 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144900874	chrX:138671571-138671572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112481365	chrX:138671589-138671590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565236318	chrX:138671767-138671768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190569122	chrX:138671803-138671804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56147698	chrX:138671981-138671982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73634052	chrX:138672001-138672002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181575016	chrX:138672117-138672118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs41310474	chrX:138672139-138672140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57852573	chrX:138672227-138672228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112415183	chrX:138672244-138672245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547167501	chrX:138672297-138672298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190650209	chrX:138672298-138672299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113378625	chrX:138672349-138672350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3117075	chrX:138672361-138672362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532233515	chrX:138672553-138672554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73573942	chrX:138672562-138672563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568797454	chrX:138672563-138672564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371394847	chrX:138672628-138672629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181165258	chrX:138672635-138672636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5909031	chrX:138672695-138672696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72179351	chrX:138672709-138672710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398069357	chrX:138672716-138672717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3128288	chrX:138672787-138672788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113128390	chrX:138672799-138672800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186441438	chrX:138672873-138672874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111887391	chrX:138673660-138673661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187267729	chrX:138673773-138673774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139749108	chrX:138673794-138673795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144428556	chrX:138673874-138673875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558671567	chrX:138673905-138673906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146129418	chrX:138673950-138673951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140111640	chrX:138674043-138674044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73573948	chrX:138674128-138674129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73573952	chrX:138674149-138674150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544256709	chrX:138674164-138674165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139485230	chrX:138674224-138674225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73573954	chrX:138674282-138674283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113882811	chrX:138674339-138674340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202150982	chrX:138674344-138674345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373110019	chrX:138674345-138674346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574772233	chrX:138674417-138674418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184821042	chrX:138674629-138674630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188090126	chrX:138674656-138674657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112570553	chrX:138674696-138674697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192705364	chrX:138674790-138674791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376745780	chrX:138674888-138674889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147857870	chrX:138674894-138674895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374327360	chrX:138674974-138674975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184508874	chrX:138674987-138674988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141462131	chrX:138675030-138675031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
lymphocytic leukemia	21291569	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
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	17603634	CNVD
abnormal development	18461090	CNVD
Multiple myeloma	17550852	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Hereditary coagulopathy	21993689	CNVD
Cerebellar atrophy	21569638	CNVD
Fragile x	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:138671400-138673000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chrX:138673600-138720600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chrX:138678200-138678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chrX:138678200-138679400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:138678600-138679000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chrX:138683800-138710800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chrX:138706000-138716200	Weak transcription	Aorta	Aorta
8	chrX:138720600-138722400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:138721400-138721800	Active TSS	Brain Anterior Caudate	brain
10	chrX:138721400-138721800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chrX:138721600-138721800	Active TSS	Brain Cingulate Gyrus	brain
12	chrX:138721600-138722800	Active TSS	Brain Angular Gyrus	brain
13	chrX:138721800-138724200	Weak transcription	Brain Anterior Caudate	brain
14	chrX:138721800-138724200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chrX:138722200-138722400	Active TSS	Brain Cingulate Gyrus	brain
16	chrX:138722200-138722800	Enhancers	NHEK	skin
17	chrX:138722400-138724200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:138722600-138723000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chrX:138722600-138723000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chrX:138722800-138723000	Flanking Active TSS	NHEK	skin
21	chrX:138722800-138724200	Weak transcription	Brain Angular Gyrus	brain
22	chrX:138723000-138723600	Weak transcription	NHEK	skin
23	chrX:138723000-138724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chrX:138723000-138724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chrX:138723600-138725200	Active TSS	NHEK	skin
26	chrX:138724200-138724400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chrX:138724200-138725000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chrX:138724200-138725200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chrX:138724200-138725200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chrX:138724200-138725200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chrX:138724200-138725200	Active TSS	Brain Angular Gyrus	brain
32	chrX:138724200-138725200	Active TSS	Brain Anterior Caudate	brain
33	chrX:138724200-138725200	Active TSS	Brain Hippocampus Middle	brain
34	chrX:138724200-138725200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chrX:138724200-138725200	Active TSS	Fetal Brain Female	brain
36	chrX:138724400-138724600	Enhancers	H9 Cell Line	embryonic stem cell
37	chrX:138724400-138724600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chrX:138724400-138724600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chrX:138724400-138724600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chrX:138724400-138724600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chrX:138724400-138724800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chrX:138724400-138724800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chrX:138724400-138724800	Enhancers	Adipose Nuclei	Adipose
44	chrX:138724400-138725000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chrX:138724400-138725000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chrX:138724400-138725000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chrX:138724400-138725000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chrX:138724400-138725000	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chrX:138724400-138725000	Active TSS	NH-A	brain
50	chrX:138724400-138725200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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