Variant report

Variant	nsv470362
Chromosome Location	chrX:125104917-125287073
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	CTCF	chrX:125272040-125272190	A549	lung:	n/a	n/a
2	CTCF	chrX:125271960-125272110	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chrX:125132600-125132750	HRPEpiC	eye:	n/a	n/a
4	CTCF	chrX:125132485-125132732	GM13977	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
5	CTCF	chrX:125132514-125132693	A549	lung:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
6	CTCF	chrX:125132480-125132630	GM12873	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
7	CTCF	chrX:125271980-125272130	GM12867	blood:	n/a	n/a
8	CTCF	chrX:125272020-125272170	GM12866	blood:	n/a	n/a
9	CTCF	chrX:125132480-125132630	GM06990	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
10	CTCF	chrX:125132540-125132690	GM12867	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
11	CTCF	chrX:125132498-125132680	HepG2	liver:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
12	CTCF	chrX:125272004-125272180	A549	lung:	n/a	n/a
13	CTCF	chrX:125271920-125272070	Hela-S3	cervix:	n/a	n/a
14	CTCF	chrX:125271964-125272167	GM12878	blood:	n/a	n/a
15	CTCF	chrX:125233981-125234054	LNCaP	prostate:	n/a	n/a
16	CTCF	chrX:125132540-125132690	MCF-7	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
17	CTCF	chrX:125272037-125272123	GM19239	blood:	n/a	n/a
18	CTCF	chrX:125272038-125272110	Fibrobl	skin:	n/a	n/a
19	CTCF	chrX:125235770-125235822	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chrX:125132560-125132710	HA-sp	spinal cord:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
21	CTCF	chrX:125132412-125132772	MCF-7	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
22	CTCF	chrX:125272040-125272190	GM12864	blood:	n/a	n/a
23	CTCF	chrX:125271960-125272110	GM12865	blood:	n/a	n/a
24	CTCF	chrX:125132470-125132724	MCF-7	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
25	CTCF	chrX:125272000-125272150	SAEC	small airway:	n/a	n/a
26	CTCF	chrX:125271950-125272183	LNCaP	prostate:	n/a	n/a
27	CTCF	chrX:125271948-125272186	LNCaP	prostate:	n/a	n/a
28	CTCF	chrX:125132440-125132590	HEK293	kidney:	n/a	n/a
29	CTCF	chrX:125271980-125272130	HRE	kidney:	n/a	n/a
30	CTCF	chrX:125132440-125132590	AG09309	skin:	n/a	n/a
31	CTCF	chrX:125271980-125272130	GM12872	blood:	n/a	n/a
32	CTCF	chrX:125275127-125275217	MCF-7	breast:	n/a	n/a
33	CTCF	chrX:125132460-125132610	HCPEpiC	choroid plexus:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
34	CTCF	chrX:125272000-125272150	NB4	blood:	n/a	n/a
35	CTCF	chrX:125119694-125119722	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:125132480-125132630	GM12871	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
37	CTCF	chrX:125271920-125272070	GM12867	blood:	n/a	n/a
38	CTCF	chrX:125132516-125132636	HepG2	liver:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
39	CTCF	chrX:125275093-125275233	MCF-7	breast:	n/a	n/a
40	CTCF	chrX:125271970-125272121	Hela-S3	cervix:	n/a	n/a
41	CTCF	chrX:125272020-125272170	GM06990	blood:	n/a	n/a
42	CTCF	chrX:125271993-125272140	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chrX:125132480-125132630	GM12874	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
44	CTCF	chrX:125132500-125132650	HRE	kidney:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
45	CTCF	chrX:125272020-125272170	GM12873	blood:	n/a	n/a
46	CTCF	chrX:125132570-125132625	MCF-7	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
47	CTCF	chrX:125271960-125272110	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chrX:125132520-125132670	BE2_C	brain:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
49	CTCF	chrX:125271940-125272090	GM12872	blood:	n/a	n/a
50	CTCF	chrX:125271980-125272130	GM12871	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:125132457..125133034-chrX:125274768..125275708,2	MCF-7	breast:
2	chrX:125132457..125133034-chrX:125274768..125275708,2	MCF-7	breast:
3	chr17:41399050..41402495-chrX:125205303..125206823,5	K562	blood:
4	chrX:125182687..125184775-chrX:125212188..125214503,2	K562	blood:
5	chrX:125182687..125184775-chrX:125212188..125214503,2	K562	blood:
6	chrX:125132320..125133131-chrX:126172183..126172720,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF12L2-1	chrX:125138428-125140100	NONHSAT138477

Variant related genes	Relation type
ENSG00000237208	TF binding region

Extended variants
information (count: 350 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:350 , 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	rs182026967	chrX:125117976-125117977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186238101	chrX:125118007-125118008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189692015	chrX:125118112-125118113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs609211	chrX:125118116-125118117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76248212	chrX:125118129-125118130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372137666	chrX:125118303-125118304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368804502	chrX:125118313-125118314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201419197	chrX:125118330-125118331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375418727	chrX:125118512-125118513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs5977651	chrX:125118642-125118643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367709494	chrX:125118643-125118644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555991173	chrX:125118808-125118809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35627856	chrX:125118910-125118911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146526902	chrX:125118928-125118929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185342885	chrX:125118986-125118987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190595147	chrX:125119015-125119016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183785496	chrX:125119018-125119019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188322360	chrX:125119024-125119025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193294930	chrX:125119037-125119038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76643287	chrX:125119104-125119105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372799913	chrX:125119139-125119140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369911358	chrX:125119195-125119196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562340424	chrX:125119235-125119236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183870631	chrX:125119275-125119276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186805756	chrX:125119319-125119320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7053989	chrX:125119353-125119354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5933113	chrX:125119457-125119458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199709013	chrX:125119519-125119520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191266883	chrX:125119545-125119546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184231632	chrX:125119577-125119578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7877696	chrX:125119721-125119722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374546240	chrX:125119771-125119772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188566170	chrX:125119839-125119840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149512156	chrX:125119846-125119847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375504332	chrX:125119857-125119858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143986206	chrX:125119872-125119873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192631836	chrX:125119935-125119936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5977654	chrX:125119952-125119953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141684892	chrX:125120021-125120022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185420650	chrX:125120119-125120120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7878263	chrX:125120162-125120163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368375021	chrX:125120186-125120187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189940677	chrX:125120226-125120227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200410768	chrX:125120304-125120305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12559446	chrX:125120355-125120356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs5933116	chrX:125120362-125120363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200679453	chrX:125120627-125120628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188183044	chrX:125120748-125120749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139123191	chrX:125120838-125120839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143974388	chrX:125120938-125120939	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	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	21364760	CNVD
Bladder cancer	24270882	CNVD
Breast cancer	17603634	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Alcoholism	21790672	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:125117800-125118200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chrX:125117800-125118400	Enhancers	H9 Cell Line	embryonic stem cell
3	chrX:125118000-125118400	Enhancers	H1 Cell Line	embryonic stem cell
4	chrX:125118200-125120600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chrX:125120600-125121400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chrX:125136800-125137600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chrX:125137800-125138000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chrX:125139800-125141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:125144200-125145600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chrX:125144600-125144800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chrX:125144600-125145600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chrX:125144800-125145000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chrX:125144800-125145600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chrX:125145000-125145200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chrX:125145200-125145400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chrX:125145400-125145600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:125161200-125161800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chrX:125161200-125162000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chrX:125161600-125162000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chrX:125161800-125165000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chrX:125165000-125166400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:125165400-125166000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chrX:125166400-125170200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chrX:125170200-125170800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chrX:125243600-125244200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chrX:125243600-125244400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chrX:125243800-125244400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chrX:125258200-125258800	Enhancers	Fetal Muscle Leg	muscle
29	chrX:125258600-125259000	Enhancers	Fetal Stomach	stomach
30	chrX:125269400-125270200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chrX:125269800-125270200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chrX:125272800-125273000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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