Variant report

Variant	esv3523942
Chromosome Location	chrX:154494927-154511617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chrX:154498988-154498991	K562	blood:	n/a	n/a
2	CBX3	chrX:154500239-154500601	K562	blood:	n/a	n/a
3	CBX3	chrX:154500278-154500546	K562	blood:	n/a	n/a
4	CEBPB	chrX:154498920-154498971	K562	blood:	n/a	n/a
5	CTCF	chrX:154499688-154499766	GM10266	blood:	n/a	n/a
6	CTCF	chrX:154496394-154496450	GM10248	blood:	n/a	n/a
7	CTCF	chrX:154502049-154502116	Lung_OC	lung:	n/a	n/a
8	CTCF	chrX:154503281-154503362	LNCaP	prostate:	n/a	n/a
9	GATA3	chrX:154498146-154498369	SH-SY5Y	brain:	n/a	n/a
10	KAP1	chrX:154499926-154500816	K562	blood:	n/a	n/a
11	MAFF	chrX:154500299-154500591	K562	blood:	n/a	chrX:154500448-154500466
12	MAFF	chrX:154500328-154500615	HepG2	liver:	n/a	chrX:154500448-154500466
13	MAFK	chrX:154500297-154500606	HepG2	liver:	n/a	n/a
14	MAFK	chrX:154500328-154500619	K562	blood:	n/a	n/a
15	MAFK	chrX:154500315-154500615	IMR90	lung:	n/a	n/a
16	MYC	chrX:154497904-154497986	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chrX:154500281-154500626	K562	blood:	n/a	n/a
18	NR2F2	chrX:154500203-154500655	K562	blood:	n/a	n/a
19	POLR2A	chrX:154500062-154501515	K562	blood:	n/a	n/a
20	POLR2A	chrX:154505580-154505701	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chrX:154511580-154511587	ProgFib	skin:	n/a	n/a
22	POLR2A	chrX:154500296-154500305	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chrX:154500569-154500570	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chrX:154501916-154501921	K562	blood:	n/a	n/a
25	POLR2A	chrX:154511605-154511744	ProgFib	skin:	n/a	n/a
26	POLR2A	chrX:154503399-154504546	K562	blood:	n/a	n/a
27	POLR2A	chrX:154511395-154511451	K562	blood:	n/a	n/a
28	POLR2A	chrX:154502927-154503006	ProgFib	skin:	n/a	n/a
29	POLR2A	chrX:154511530-154511575	ProgFib	skin:	n/a	n/a
30	POLR2A	chrX:154501318-154501473	ProgFib	skin:	n/a	n/a
31	POLR2A	chrX:154496122-154496192	MCF10A-Er-Src	breast:	n/a	n/a
32	RFX5	chrX:154495722-154496100	Hela-S3	cervix:	n/a	n/a
33	RFX5	chrX:154495750-154495982	GM12878	blood:	n/a	n/a
34	RFX5	chrX:154495656-154496249	IMR90	lung:	n/a	n/a
35	RFX5	chrX:154495526-154496291	SK-N-SH	brain:	n/a	n/a
36	RFX5	chrX:154495732-154496082	K562	blood:	n/a	n/a
37	STAT3	chrX:154504678-154504878	MCF10A-Er-Src	breast:	n/a	chrX:154504832-154504843
38	STAT3	chrX:154495432-154495487	MCF10A-Er-Src	breast:	n/a	n/a
39	TRIM28	chrX:154500221-154500709	K562	blood:	n/a	n/a
40	ZNF143	chrX:154500276-154500642	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chrX:154488050..154490393-chrX:154494855..154496413,2	K562	blood:
2	chrX:154488893..154491675-chrX:154494303..154496413,2	K562	blood:
3	chrX:154444639..154446602-chrX:154492705..154495023,2	MCF-7	breast:

No data

Variant related genes	Relation type
RAB39B	TF binding region
ENSG00000155959	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141241718	chrX:154495618-154495619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369350587	chrX:154495669-154495670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200023018	chrX:154495678-154495679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs181049600	chrX:154495694-154495695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs367869789	chrX:154495858-154495859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186808534	chrX:154495876-154495877	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3105278	chrX:154495927-154495928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs523614	chrX:154496166-154496167	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201953095	chrX:154496268-154496269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373531568	chrX:154496269-154496270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140006968	chrX:154498310-154498311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs578365	chrX:154498348-154498349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185148154	chrX:154498357-154498358	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371029437	chrX:154502400-154502401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187243532	chrX:154502415-154502416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs150372277	chrX:154502554-154502555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138829956	chrX:154502604-154502605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs375759225	chrX:154502650-154502651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs190961997	chrX:154502762-154502763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs370927339	chrX:154502821-154502822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183150262	chrX:154502841-154502842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141957388	chrX:154502959-154502960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372357421	chrX:154502965-154502966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs5983694	chrX:154503045-154503046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139630913	chrX:154503052-154503053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199818955	chrX:154503056-154503057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187683838	chrX:154503109-154503110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7891581	chrX:154503266-154503267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371214006	chrX:154503379-154503380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74427933	chrX:154503546-154503547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192784880	chrX:154503663-154503664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184314575	chrX:154503730-154503731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188274746	chrX:154503819-154503820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192554910	chrX:154503901-154503902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144345034	chrX:154503973-154503974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3120733	chrX:154504066-154504067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs370147125	chrX:154504074-154504075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185343494	chrX:154504094-154504095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374581690	chrX:154504151-154504152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188956514	chrX:154504222-154504223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142471046	chrX:154504233-154504234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112158071	chrX:154504288-154504289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181525309	chrX:154504326-154504327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185039869	chrX:154504349-154504350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77394222	chrX:154504423-154504424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181065883	chrX:154504715-154504716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80068855	chrX:154504726-154504727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201098952	chrX:154504791-154504792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374867602	chrX:154504792-154504793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376821023	chrX:154504795-154504796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Astrocytoma	17387387	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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 abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
abnormal development	18461090	CNVD
Premature ovarian failure	20952765	CNVD
Abnormal corpus callosum	21572526	CNVD
Breast cancer	21364760	CNVD
Astrocytoma	22246337	CNVD
Cerebellar atrophy	21569638	CNVD
periventricular nodular heterotopia	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Hoyeraal-Hreidarsson syndrome	21569638	CNVD
Oto-palato-digital type II	21569638	CNVD
incontinentia pigmenti anhidrotic ectodermal dysplasia with immunodeficiency	18350553	CNVD
Aqueductal stenosis	21572526	CNVD
Hirschsprung''s Disease	21712996	CNVD
Vermis hypoplasia	21569638	CNVD
X-linked hydrocephalus	21569638	CNVD
Rett syndrome	21569638	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Epilepsy	20970697	CNVD
Hemophilia A	17823971	CNVD
Rett syndrome	18923514	CNVD
Rett syndrome	22241247	CNVD
Intellectual disability	21984752	CNVD
Mental retardation	19951919	CNVD
Hypotonia	17088400	CNVD
Intellectual disability	22511893	CNVD
Mental retardation	17088400	CNVD
Mental retardation	21119712	CNVD
Neurodevelopmental disorder	19324899	CNVD
Recurrent Infections	17088400	CNVD
Rett syndrome	22283845	CNVD
Rett syndrome	21383316	CNVD
Cryptorchidism	21048976	CNVD
Disorders of sex development	21048976	CNVD
Cervical cancer	21062161	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Hemophilia A	18787571	CNVD
Hunters syndrom	18787571	CNVD
Prader-willi syndrome	20588305	CNVD
Mental retardation	19057379	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
abortions and stillbirths	19751515	CNVD
Hereditary coagulopathy	21993689	CNVD
Intellectual disability	23615299	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:154502400-154502800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chrX:154502400-154503000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chrX:154502800-154506800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chrX:154503000-154505800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chrX:154503600-154505600	Weak transcription	Adipose Nuclei	Adipose
6	chrX:154503800-154508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chrX:154504400-154520600	Weak transcription	K562	blood
8	chrX:154505000-154505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chrX:154505000-154527800	Weak transcription	Ovary	ovary
10	chrX:154505400-154508400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chrX:154505600-154509400	Strong transcription	Adipose Nuclei	Adipose
12	chrX:154505800-154506000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chrX:154505800-154508400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chrX:154506000-154508400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chrX:154506800-154509000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chrX:154508000-154508600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chrX:154508400-154509000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:154508400-154509000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chrX:154508400-154509600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:154508600-154509000	Active TSS	Rectal Mucosa Donor 31	rectum
21	chrX:154509000-154511000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chrX:154509000-154522200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chrX:154509400-154511000	Weak transcription	Adipose Nuclei	Adipose
24	chrX:154509600-154516600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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