Variant report

Variant	esv2758868
Chromosome Location	chrX:57632373-57890408
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	ARID3A	chrX:57666501-57667488	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:57670088-57670644	HepG2	liver:	n/a	n/a
3	ARID3A	chrX:57671687-57671877	HepG2	liver:	n/a	n/a
4	ARID3A	chrX:57639933-57640067	HepG2	liver:	n/a	n/a
5	BACH1	chrX:57633816-57634114	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chrX:57848241-57848426	K562	blood:	n/a	n/a
7	BHLHE40	chrX:57848220-57848485	GM12878	blood:	n/a	n/a
8	BRCA1	chrX:57764318-57764638	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chrX:57848215-57848833	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chrX:57670163-57670487	MCF-7	breast:	n/a	n/a
11	CEBPB	chrX:57670129-57670439	A549	lung:	n/a	n/a
12	CEBPB	chrX:57762268-57762809	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chrX:57670097-57670437	HepG2	liver:	n/a	n/a
14	CEBPB	chrX:57670026-57670529	A549	lung:	n/a	n/a
15	CEBPB	chrX:57764034-57765026	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chrX:57670122-57670468	A549	lung:	n/a	n/a
17	CEBPB	chrX:57758054-57758213	K562	blood:	n/a	chrX:57758121-57758132 chrX:57758121-57758134
18	CEBPB	chrX:57760641-57761470	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chrX:57758075-57758275	HepG2	liver:	n/a	chrX:57758121-57758132 chrX:57758121-57758134
20	CEBPB	chrX:57666435-57666799	HepG2	liver:	n/a	chrX:57666602-57666613
21	CEBPB	chrX:57670141-57670361	HepG2	liver:	n/a	n/a
22	CEBPB	chrX:57666436-57666770	HepG2	liver:	n/a	chrX:57666602-57666613
23	CEBPB	chrX:57670163-57670468	Hela-S3	cervix:	n/a	n/a
24	CHD2	chrX:57677690-57677890	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chrX:57843820-57843970	Caco-2	colon:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
26	CTCF	chrX:57848191-57848632	MCF-7	breast:	n/a	n/a
27	CTCF	chrX:57843848-57844064	Lung_OC	lung:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
28	CTCF	chrX:57848280-57848430	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chrX:57697595-57697622	LNCaP	prostate:	n/a	n/a
30	CTCF	chrX:57848260-57848410	HCT-116	colon:	n/a	n/a
31	CTCF	chrX:57843780-57843930	MCF-7	breast:	n/a	n/a
32	CTCF	chrX:57843840-57843990	HPAF	blood vessel:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
33	CTCF	chrX:57843879-57844048	GM20000	blood:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
34	CTCF	chrX:57848180-57848330	GM12870	blood:	n/a	n/a
35	CTCF	chrX:57651494-57651535	Medullo	brain:	n/a	n/a
36	CTCF	chrX:57748785-57748851	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chrX:57666760-57666910	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chrX:57779420-57779570	GM12869	blood:	n/a	n/a
39	CTCF	chrX:57848180-57848449	A549	lung:	n/a	n/a
40	CTCF	chrX:57848240-57848390	RPTEC	kidney:	n/a	n/a
41	CTCF	chrX:57843800-57843950	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chrX:57666850-57666877	A549	lung:	n/a	n/a
43	CTCF	chrX:57666745-57666893	HepG2	liver:	n/a	n/a
44	CTCF	chrX:57843826-57844109	Medullo	brain:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
45	CTCF	chrX:57848200-57848536	LNCaP	prostate:	n/a	n/a
46	CTCF	chrX:57843780-57843930	RPTEC	kidney:	n/a	n/a
47	CTCF	chrX:57848280-57848430	SAEC	small airway:	n/a	n/a
48	CTCF	chrX:57843820-57843970	HPAF	blood vessel:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964
49	CTCF	chrX:57848260-57848410	Caco-2	colon:	n/a	n/a
50	CTCF	chrX:57843820-57843970	AG10803	skin:	n/a	chrX:57843942-57843958 chrX:57843941-57843959 chrX:57843943-57843964

No.	Distal block	Cell Line	Cell type
1	chrX:57617996..57620588-chrX:57675872..57678039,2	MCF-7	breast:
2	chrX:57847902..57848941-chrX:57955530..57956361,5	MCF-7	breast:
3	chrX:57676792..57678804-chrX:57680775..57682824,2	MCF-7	breast:
4	chrX:57874195..57876996-chrX:57879495..57881455,2	MCF-7	breast:
5	chrX:57847901..57848958-chrX:57945372..57946185,3	MCF-7	breast:
6	chrX:57848200..57848796-chrX:57944842..57945766,2	MCF-7	breast:
7	chrX:57682992..57684642-chrX:57687037..57689864,2	MCF-7	breast:
8	chrX:57848736..57850264-chrX:57955258..57957705,2	MCF-7	breast:
9	chrX:57705635..57707267-chrX:57707321..57710024,2	MCF-7	breast:
10	chrX:57847913..57848811-chrX:58052114..58052903,5	MCF-7	breast:
11	chrX:57847837..57849053-chrX:57955600..57956476,4	MCF-7	breast:
12	chrX:57682992..57684642-chrX:57687037..57689864,2	MCF-7	breast:
13	chrX:57874195..57876996-chrX:57879495..57881455,2	MCF-7	breast:
14	chrX:57847862..57848818-chrX:58052130..58053088,3	MCF-7	breast:
15	chrX:57616778..57619182-chrX:57669301..57671313,2	MCF-7	breast:
16	chrX:57676792..57678804-chrX:57680775..57682824,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZXDB-1	chrX:57667298-57667326	XLOC_007998
2	lnc-ZXDB-1	chrX:57680523-57680873	XLOC_007998

Variant related genes	Relation type
ENSG00000227427	TF binding region
ENSG00000215174	TF binding region
ENSG00000215174	chromatin interactions
ENSG00000198455	chromatin interactions

Extended variants
information (count: 766 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537850938	chrX:57632576-57632577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559224210	chrX:57632657-57632658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182177446	chrX:57632685-57632686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186692650	chrX:57632768-57632769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190364216	chrX:57632770-57632771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577430564	chrX:57632916-57632917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182608706	chrX:57632921-57632922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186845147	chrX:57633112-57633113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375556842	chrX:57633145-57633146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189761940	chrX:57633163-57633164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3015289	chrX:57633266-57633267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369973560	chrX:57633480-57633481	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374529459	chrX:57633533-57633534	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562915578	chrX:57633809-57633810	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5914128	chrX:57634211-57634212	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373404435	chrX:57634433-57634434	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs12859733	chrX:57634483-57634484	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs12864004	chrX:57634541-57634542	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12864029	chrX:57634555-57634556	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12860076	chrX:57634556-57634557	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12860109	chrX:57634578-57634579	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556638165	chrX:57634584-57634585	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12864056	chrX:57634585-57634586	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs12838375	chrX:57634598-57634599	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs3015287	chrX:57634653-57634654	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145741103	chrX:57634708-57634709	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs535189555	chrX:57634747-57634748	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs59388326	chrX:57634762-57634763	Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs568529232	chrX:57634815-57634816	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148381706	chrX:57634822-57634823	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4573421	chrX:57634842-57634843	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529783905	chrX:57634920-57634921	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376848954	chrX:57635036-57635037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141558559	chrX:57635126-57635127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368883794	chrX:57635197-57635198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193056142	chrX:57641415-57641416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183019800	chrX:57641430-57641431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188104334	chrX:57641474-57641475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs192494613	chrX:57641623-57641624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149432199	chrX:57641628-57641629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs184471425	chrX:57641786-57641787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189445778	chrX:57641878-57641879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7883396	chrX:57641904-57641905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs192441363	chrX:57641912-57641913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs373660398	chrX:57641916-57641917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs148164692	chrX:57641926-57641927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142993292	chrX:57641956-57641957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113856463	chrX:57641959-57641960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184565005	chrX:57641982-57641983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189011811	chrX:57642024-57642025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57623000-57633200	Weak transcription	Aorta	Aorta
2	chrX:57623400-57633400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chrX:57623400-57633600	Weak transcription	HSMM	muscle
4	chrX:57630000-57634000	Weak transcription	Left Ventricle	heart
5	chrX:57633400-57633800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chrX:57633400-57634200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chrX:57633400-57634600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chrX:57633600-57633800	Enhancers	HSMM	muscle
9	chrX:57633600-57634000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chrX:57633600-57634000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chrX:57633600-57634200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chrX:57633600-57634600	Enhancers	H1 Cell Line	embryonic stem cell
13	chrX:57633600-57634800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chrX:57633600-57634800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chrX:57633800-57634600	Active TSS	HSMM	muscle
16	chrX:57633800-57634600	Active TSS	HSMMtube	muscle
17	chrX:57633800-57634800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chrX:57634000-57634200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chrX:57634000-57634200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chrX:57634000-57634200	Enhancers	Left Ventricle	heart
21	chrX:57634000-57634600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chrX:57634000-57634600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chrX:57634000-57634600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chrX:57634000-57634600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chrX:57634000-57634600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chrX:57634000-57634600	Active TSS	Muscle Satellite Cultured Cells	--
27	chrX:57634000-57634600	Active TSS	Stomach Smooth Muscle	stomach
28	chrX:57634000-57634800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chrX:57634000-57634800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chrX:57634200-57634400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chrX:57634200-57634400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chrX:57634200-57634400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chrX:57634200-57634400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chrX:57634200-57634400	Flanking Active TSS	Left Ventricle	heart
35	chrX:57634200-57634600	Active TSS	Placenta	Placenta
36	chrX:57634200-57634600	Active TSS	Right Ventricle	heart
37	chrX:57634400-57634600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chrX:57634400-57634600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chrX:57634400-57634600	Enhancers	K562	blood
40	chrX:57634400-57634800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chrX:57634600-57635000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chrX:57634800-57635200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chrX:57641400-57642200	ZNF genes & repeats	Liver	Liver
44	chrX:57642000-57642400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chrX:57646800-57647600	Enhancers	Dnd41	blood
46	chrX:57665000-57668400	Enhancers	HepG2	liver
47	chrX:57666400-57667800	Enhancers	Liver	Liver
48	chrX:57667800-57671400	Weak transcription	Liver	Liver
49	chrX:57668400-57669800	Weak transcription	HepG2	liver
50	chrX:57669800-57671800	Enhancers	HepG2	liver

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