Variant report

Variant	nsv915900
Chromosome Location	chrX:125132453-125287251
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:125132490-125132680	K562	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
2	CTCF	chrX:125132560-125132710	HA-sp	spinal cord:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
3	CTCF	chrX:125271973-125272136	K562	blood:	n/a	n/a
4	CTCF	chrX:125193571-125193655	GM20000	blood:	n/a	n/a
5	CTCF	chrX:125188360-125188510	HEK293	kidney:	n/a	n/a
6	CTCF	chrX:125132520-125132670	BE2_C	brain:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
7	CTCF	chrX:125275093-125275233	MCF-7	breast:	n/a	n/a
8	CTCF	chrX:125272051-125272083	MCF-7	breast:	n/a	n/a
9	CTCF	chrX:125132514-125132693	A549	lung:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
10	CTCF	chrX:125275127-125275217	MCF-7	breast:	n/a	n/a
11	CTCF	chrX:125271880-125272030	BE2_C	brain:	n/a	n/a
12	CTCF	chrX:125286033-125286051	GM10248	blood:	n/a	n/a
13	CTCF	chrX:125275160-125275310	MCF-7	breast:	n/a	n/a
14	CTCF	chrX:125134665-125134799	GM20000	blood:	n/a	n/a
15	CTCF	chrX:125271830-125272179	MCF-7	breast:	n/a	n/a
16	CTCF	chrX:125272038-125272110	Fibrobl	skin:	n/a	n/a
17	CTCF	chrX:125132500-125132650	SK-N-SH_RA	brain:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
18	CTCF	chrX:125132540-125132690	HEEpiC	esophagus:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
19	CTCF	chrX:125190687-125190715	LNCaP	prostate:	n/a	n/a
20	CTCF	chrX:125132500-125132650	GM12868	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
21	CTCF	chrX:125271980-125272130	K562	blood:	n/a	n/a
22	CTCF	chrX:125279204-125279247	ProgFib	skin:	n/a	n/a
23	CTCF	chrX:125271940-125272090	GM12864	blood:	n/a	n/a
24	CTCF	chrX:125229555-125229640	GM20000	blood:	n/a	n/a
25	CTCF	chrX:125132456-125132717	LNCaP	prostate:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
26	CTCF	chrX:125132480-125132630	GM12873	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
27	CTCF	chrX:125132540-125132690	GM12873	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
28	CTCF	chrX:125132452-125132705	K562	blood:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
29	CTCF	chrX:125272000-125272197	GM19238	blood:	n/a	n/a
30	CTCF	chrX:125272040-125272190	GM12864	blood:	n/a	n/a
31	CTCF	chrX:125132540-125132690	MCF-7	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
32	CTCF	chrX:125132446-125132531	GM20000	blood:	n/a	n/a
33	CTCF	chrX:125272000-125272150	HEK293	kidney:	n/a	n/a
34	CTCF	chrX:125272160-125272310	GM12868	blood:	n/a	n/a
35	CTCF	chrX:125275132-125275261	MCF-7	breast:	n/a	n/a
36	CTCF	chrX:125272049-125272148	GM12891	blood:	n/a	n/a
37	CTCF	chrX:125140791-125140834	A549	lung:	n/a	n/a
38	CTCF	chrX:125271896-125272426	SK-N-SH	brain:	n/a	n/a
39	CTCF	chrX:125167789-125167829	ProgFib	skin:	n/a	n/a
40	CTCF	chrX:125132500-125132650	HRE	kidney:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
41	CTCF	chrX:125272020-125272170	MCF-7	breast:	n/a	n/a
42	CTCF	chrX:125275093-125275241	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:125132540-125132690	AoAF	blood vessel:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
44	CTCF	chrX:125271970-125272121	Hela-S3	cervix:	n/a	n/a
45	CTCF	chrX:125271947-125272197	MCF-7	breast:	n/a	n/a
46	CTCF	chrX:125132520-125132670	HMEC	breast:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
47	CTCF	chrX:125220164-125220209	GM20000	blood:	n/a	n/a
48	CTCF	chrX:125132489-125132693	Gliobla	brain:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593
49	CTCF	chrX:125271980-125272130	GM12875	blood:	n/a	n/a
50	CTCF	chrX:125132460-125132610	BE2_C	brain:	n/a	chrX:125132582-125132600 chrX:125132583-125132599 chrX:125132584-125132605 chrX:125132586-125132593

No.	Distal block	Cell Line	Cell type
1	chr17:41399050..41402495-chrX:125205303..125206823,5	K562	blood:
2	chrX:125132320..125133131-chrX:126172183..126172720,2	MCF-7	breast:
3	chrX:125132457..125133034-chrX:125274768..125275708,2	MCF-7	breast:
4	chrX:125182687..125184775-chrX:125212188..125214503,2	K562	blood:
5	chrX:125182687..125184775-chrX:125212188..125214503,2	K562	blood:
6	chrX:125132457..125133034-chrX:125274768..125275708,2	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: 297 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186765169	chrX:125136849-125136850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192801439	chrX:125136880-125136881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6637989	chrX:125137059-125137060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113445234	chrX:125137062-125137063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184707584	chrX:125137076-125137077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143389653	chrX:125137098-125137099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188422303	chrX:125137182-125137183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148357766	chrX:125137193-125137194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35561662	chrX:125137252-125137253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193042490	chrX:125137300-125137301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142113731	chrX:125137318-125137319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566002651	chrX:125137407-125137408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146337079	chrX:125137460-125137461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60320962	chrX:125137491-125137492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142764774	chrX:125137501-125137502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs465510	chrX:125137809-125137810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184778520	chrX:125137869-125137870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs60177914	chrX:125137876-125137877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148461727	chrX:125137911-125137912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57383995	chrX:125137916-125137917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188137406	chrX:125138530-125138531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144303486	chrX:125138800-125138801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs181287593	chrX:125138904-125138905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs111286362	chrX:125138961-125138962	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs372018417	chrX:125139013-125139014	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs186330937	chrX:125139054-125139055	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs191633369	chrX:125139072-125139073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181675391	chrX:125139156-125139157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186000018	chrX:125139196-125139197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs140078212	chrX:125139274-125139275	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200803626	chrX:125139296-125139297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200350874	chrX:125139502-125139503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs377640755	chrX:125139641-125139642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs6637992	chrX:125139652-125139653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs138925730	chrX:125139772-125139773	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs528379861	chrX:125139786-125139787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs191202663	chrX:125139791-125139792	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs183364737	chrX:125139805-125139806	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs5977693	chrX:125139821-125139822	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs565208311	chrX:125139849-125139850	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs186816191	chrX:125139869-125139870	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs368732419	chrX:125140012-125140013	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs73545000	chrX:125140150-125140151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs640	chrX:125140207-125140208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs639	chrX:125140381-125140382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs638	chrX:125140393-125140394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190884570	chrX:125140398-125140399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62614261	chrX:125140421-125140422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372024959	chrX:125140576-125140577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183070883	chrX:125140689-125140690	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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

Chromatin state (count:27 , 50 per page) page: 1

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

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