Variant report

Variant	nsv524163
Chromosome Location	chrX:6184334-6418059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:459)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chrX:6229269-6229469	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chrX:6243610-6243868	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chrX:6384038-6384307	GM12878	blood:	n/a	chrX:6384168-6384179 chrX:6384169-6384179
4	CCNT2	chrX:6312899-6313115	K562	blood:	n/a	n/a
5	CEBPB	chrX:6384648-6384957	IMR90	lung:	n/a	chrX:6384810-6384823
6	CEBPB	chrX:6196250-6196493	IMR90	lung:	n/a	n/a
7	CEBPB	chrX:6196312-6196512	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chrX:6294030-6294216	A549	lung:	n/a	n/a
9	CEBPB	chrX:6196213-6196522	A549	lung:	n/a	n/a
10	CEBPB	chrX:6295507-6295722	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chrX:6196285-6196484	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:6232280-6232583	IMR90	lung:	n/a	chrX:6232438-6232449
13	CEBPB	chrX:6232394-6232537	HepG2	liver:	n/a	chrX:6232438-6232449
14	CEBPB	chrX:6392183-6392377	IMR90	lung:	n/a	n/a
15	CHD2	chrX:6217947-6218079	GM12878	blood:	n/a	n/a
16	CHD2	chrX:6291664-6291747	K562	blood:	n/a	n/a
17	CTCF	chrX:6396903-6396979	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:6289500-6289650	HepG2	liver:	n/a	chrX:6289585-6289606 chrX:6289586-6289595
19	CTCF	chrX:6383518-6383592	GM20000	blood:	n/a	n/a
20	CTCF	chrX:6210784-6210858	Medullo	brain:	n/a	n/a
21	CTCF	chrX:6261996-6262065	GM10248	blood:	n/a	n/a
22	CTCF	chrX:6409727-6409809	GM10248	blood:	n/a	n/a
23	CTCF	chrX:6187232-6187272	GM12891	blood:	n/a	n/a
24	CTCF	chrX:6229109-6229161	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chrX:6281380-6281530	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chrX:6210629-6211003	GM12878	blood:	n/a	n/a
27	CTCF	chrX:6281340-6281490	GM12874	blood:	n/a	n/a
28	CTCF	chrX:6358377-6358462	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chrX:6210733-6210941	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chrX:6281320-6281470	HRE	kidney:	n/a	n/a
31	CTCF	chrX:6210700-6210850	GM12872	blood:	n/a	n/a
32	CTCF	chrX:6255452-6255535	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chrX:6281360-6281510	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chrX:6210800-6210950	GM06990	blood:	n/a	n/a
35	CTCF	chrX:6281378-6281502	Gliobla	brain:	n/a	n/a
36	CTCF	chrX:6210652-6210779	GM20000	blood:	n/a	n/a
37	CTCF	chrX:6318727-6318855	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chrX:6210660-6210810	Hela-S3	cervix:	n/a	n/a
39	CTCF	chrX:6210908-6210933	GM20000	blood:	n/a	n/a
40	CTCF	chrX:6396958-6396997	GM20000	blood:	n/a	n/a
41	CTCF	chrX:6281384-6281458	HepG2	liver:	n/a	n/a
42	CTCF	chrX:6326084-6326144	GM20000	blood:	n/a	n/a
43	CTCF	chrX:6326122-6326137	GM10266	blood:	n/a	n/a
44	CTCF	chrX:6303354-6303476	GM10248	blood:	n/a	n/a
45	CTCF	chrX:6210801-6210858	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chrX:6210640-6210790	GM12869	blood:	n/a	n/a
47	CTCF	chrX:6210720-6210870	MCF-7	breast:	n/a	n/a
48	CTCF	chrX:6343820-6343970	GM12865	blood:	n/a	n/a
49	CTCF	chrX:6305852-6305920	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chrX:6206476-6206564	LNCaP	prostate:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:87849338..87850062-chrX:6327052..6327572,2	NB4	blood:
2	chrX:5939484..5940010-chrX:6281086..6281665,2	MCF-7	breast:
3	chrX:6377159..6378777-chrX:6382094..6385043,2	MCF-7	breast:
4	chrX:6377159..6378777-chrX:6382094..6385043,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STS-5	chrX:6194587-6194683	NONHSAT136166
2	lnc-STS-5	chrX:6193676-6193984	NONHSAT136166

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4770	chrX:6301948-6301965	MIMAT0019924

No data

Variant related genes	Relation type
ENSG00000237730	TF binding region
ENSG00000225962	TF binding region
MIR4770	TF binding region
ENSG00000229818	TF binding region
ENSG00000075142	chromatin interactions

Extended variants
information (count: 1638 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1638 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77903708	chrX:6188281-6188282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146302607	chrX:6188340-6188341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545144897	chrX:6188400-6188401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139617306	chrX:6188406-6188407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189292355	chrX:6188444-6188445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182394589	chrX:6188452-6188453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375614677	chrX:6188486-6188487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113606528	chrX:6188631-6188632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144339330	chrX:6188645-6188646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370158798	chrX:6188649-6188650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146721377	chrX:6188782-6188783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148463392	chrX:6188792-6188793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142629027	chrX:6188834-6188835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540446647	chrX:6188874-6188875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185726774	chrX:6188967-6188968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560352218	chrX:6188979-6188980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7064335	chrX:6188992-6188993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549089735	chrX:6189028-6189029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140889382	chrX:6189059-6189060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375781455	chrX:6189124-6189125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190093285	chrX:6189348-6189349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59976283	chrX:6189390-6189391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397701265	chrX:6189391-6189392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181563234	chrX:6189449-6189450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185358265	chrX:6189563-6189564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112371623	chrX:6189608-6189609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4826720	chrX:6189681-6189682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73461323	chrX:6189694-6189695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375924982	chrX:6189749-6189750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556743114	chrX:6189776-6189777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201576527	chrX:6189824-6189825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113328778	chrX:6189848-6189849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201501972	chrX:6189851-6189852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190171174	chrX:6189886-6189887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199711664	chrX:6189910-6189911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111737783	chrX:6190048-6190049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141211396	chrX:6190049-6190050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146964166	chrX:6190111-6190112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181303351	chrX:6190113-6190114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114383048	chrX:6190153-6190154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190955500	chrX:6190292-6190293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4079058	chrX:6190306-6190307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575438779	chrX:6190331-6190332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375993950	chrX:6190349-6190350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184008480	chrX:6190355-6190356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188812981	chrX:6190363-6190364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57480592	chrX:6190385-6190386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1809193	chrX:6190421-6190422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60992289	chrX:6190424-6190425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190453031	chrX:6190566-6190567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
short stature	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Abnormal phenotypes	21355048	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Microphthalmia	21572526	CNVD
Steroid sulfatase deficiency	21549014	CNVD
Attention deficit hyperactivity disorder	21355048	CNVD
Ichthyosis	21355048	CNVD
Mental retardation	21355048	CNVD
Immune disease	21076436	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic ductal adenocarcinoma	19077451	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:240 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:6188200-6188400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chrX:6188400-6188800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chrX:6188400-6189000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chrX:6188400-6190000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chrX:6188600-6188800	Enhancers	H9 Cell Line	embryonic stem cell
6	chrX:6188600-6189200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chrX:6188800-6189000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chrX:6188800-6194200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chrX:6189000-6190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chrX:6189200-6190000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chrX:6190000-6190200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:6190000-6190400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chrX:6190000-6190400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:6190200-6196200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chrX:6190400-6194000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chrX:6193200-6193400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:6194000-6194200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chrX:6194000-6195200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chrX:6194200-6195200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chrX:6194800-6195200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chrX:6195200-6196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chrX:6195200-6196000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chrX:6195200-6196200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chrX:6196000-6196600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chrX:6196000-6196800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chrX:6196000-6197000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chrX:6196000-6197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chrX:6196200-6197200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chrX:6196200-6197600	Enhancers	H1 Cell Line	embryonic stem cell
30	chrX:6196200-6197600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chrX:6196200-6198800	Enhancers	H9 Cell Line	embryonic stem cell
32	chrX:6196400-6196800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chrX:6196400-6197600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chrX:6196400-6197800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chrX:6196600-6196800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chrX:6196800-6197000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chrX:6196800-6197200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chrX:6197000-6197200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chrX:6197000-6197200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chrX:6197000-6198000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chrX:6197000-6198000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chrX:6197000-6198600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chrX:6197200-6197400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chrX:6197200-6197600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chrX:6197200-6198800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chrX:6197400-6198800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chrX:6197400-6198800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chrX:6197600-6197800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chrX:6197600-6197800	Bivalent Enhancer	Fetal Kidney	kidney
50	chrX:6197600-6198000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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