Variant report

Variant	esv3384055
Chromosome Location	chrX:80067856-80127787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:80104674-80104806	K562	blood:	n/a	n/a
2	CEBPB	chrX:80097851-80098124	IMR90	lung:	n/a	n/a
3	CEBPB	chrX:80123051-80123260	HepG2	liver:	n/a	chrX:80123205-80123218 chrX:80123205-80123216 chrX:80123207-80123218 chrX:80123205-80123218
4	CEBPB	chrX:80090704-80090970	IMR90	lung:	n/a	n/a
5	CEBPB	chrX:80071637-80071878	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chrX:80090855-80090932	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chrX:80067799-80068011	ProgFib	skin:	n/a	n/a
8	CTCF	chrX:80067758-80067994	K562	blood:	n/a	n/a
9	CTCF	chrX:80067760-80067910	GM12868	blood:	n/a	n/a
10	CTCF	chrX:80067840-80067990	GM12868	blood:	n/a	n/a
11	CTCF	chrX:80067841-80067997	GM12891	blood:	n/a	n/a
12	CTCF	chrX:80067860-80068010	HMF	breast:	n/a	n/a
13	CTCF	chrX:80067820-80067970	HPAF	blood vessel:	n/a	n/a
14	CTCF	chrX:80089820-80089970	Hela-S3	cervix:	n/a	n/a
15	CTCF	chrX:80067808-80068010	GM12878	blood:	n/a	n/a
16	CTCF	chrX:80067760-80067910	MCF-7	breast:	n/a	n/a
17	CTCF	chrX:80076111-80076182	GM10266	blood:	n/a	n/a
18	CTCF	chrX:80067840-80067990	Hela-S3	cervix:	n/a	n/a
19	CTCF	chrX:80067834-80067995	GM19239	blood:	n/a	n/a
20	CTCF	chrX:80067860-80068010	AG04449	skin:	n/a	n/a
21	CTCF	chrX:80067810-80068008	Gliobla	brain:	n/a	n/a
22	CTCF	chrX:80067840-80067990	GM06990	blood:	n/a	n/a
23	CTCF	chrX:80067862-80067965	GM19240	blood:	n/a	n/a
24	CTCF	chrX:80067840-80067990	HRPEpiC	eye:	n/a	n/a
25	CTCF	chrX:80067780-80067930	SAEC	small airway:	n/a	n/a
26	CTCF	chrX:80081243-80081346	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chrX:80067835-80067998	MCF-7	breast:	n/a	n/a
28	CTCF	chrX:80067570-80068098	SK-N-SH	brain:	n/a	n/a
29	CTCF	chrX:80067820-80067970	AG10803	skin:	n/a	n/a
30	CTCF	chrX:80067842-80067976	GM12892	blood:	n/a	n/a
31	CTCF	chrX:80067780-80067930	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chrX:80067702-80068104	GM12878	blood:	n/a	n/a
33	CTCF	chrX:80087424-80087497	GM10266	blood:	n/a	n/a
34	CTCF	chrX:80067822-80067974	Pancreas_OC	pancreas:	n/a	n/a
35	CTCF	chrX:80083667-80083739	GM13976	blood:	n/a	n/a
36	CTCF	chrX:80067780-80067930	RPTEC	kidney:	n/a	n/a
37	CTCF	chrX:80125205-80125345	LNCaP	prostate:	n/a	n/a
38	CTCF	chrX:80067840-80067990	AG09309	skin:	n/a	n/a
39	CTCF	chrX:80067800-80067950	GM12865	blood:	n/a	n/a
40	CTCF	chrX:80067860-80068010	AoAF	blood vessel:	n/a	n/a
41	CTCF	chrX:80067813-80067998	A549	lung:	n/a	n/a
42	CTCF	chrX:80067820-80067970	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chrX:80067809-80067980	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chrX:80070317-80070368	A549	lung:	n/a	n/a
45	CTCF	chrX:80067800-80067950	A549	lung:	n/a	n/a
46	CTCF	chrX:80067880-80068030	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chrX:80067840-80067990	HEK293	kidney:	n/a	n/a
48	CTCF	chrX:80074066-80074127	GM20000	blood:	n/a	n/a
49	CTCF	chrX:80067780-80067930	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chrX:80067740-80067890	HVMF	connective:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:80068613-80068663	NHBE	bronchial:	n/a
2	chrX:80068613-80068663	HCT-116	colon:	n/a
3	chrX:80068613-80068663	HepG2	liver:	n/a
4	chrX:80068613-80068663	LNCaP	prostate:	n/a
5	chrX:80068613-80068663	HRPEpiC	eye:	n/a
6	chrX:80068613-80068663	RPTEC	kidney:	n/a
7	chrX:80068613-80068663	BJ	skin:	n/a
8	chrX:80068613-80068663	ECC-1	luminal epithelium:	n/a
9	chrX:80068613-80068663	AG09319	gingival:	n/a
10	chrX:80068613-80068663	HUVEC	blood vessel:	n/a
11	chrX:80068613-80068663	AG04450	lung:	fetal
12	chrX:80068613-80068663	AG04449	skin:	fetal
13	chrX:80068613-80068663	HRE	kidney:	n/a
14	chrX:80068613-80068663	ovcar-3	ovarian:	n/a
15	chrX:80068613-80068663	GM12892	blood:	n/a
16	chrX:80068613-80068663	PFSK-1	brain:	n/a
17	chrX:80068613-80068663	GM19239	blood:	n/a
18	chrX:80068613-80068663	NT2-D1	testis:	n/a
19	chrX:80068613-80068663	HIPEpiC	eye:	n/a
20	chrX:80068613-80068663	GM12878	blood:	n/a
21	chrX:80068613-80068663	HPAEpiC	pulmonary alveolar:	n/a
22	chrX:80068613-80068663	AoSMC	blood vessel:	n/a
23	chrX:80068613-80068663	Hepatocyte	liver:	n/a
24	chrX:80068613-80068663	NH-A	brain:	n/a
25	chrX:80068613-80068663	HAEpiC	amniotic membrane:	n/a
26	chrX:80068613-80068663	SK-N-SH	brain:	n/a
27	chrX:80068613-80068663	GM12891	blood:	n/a
28	chrX:80068613-80068663	HMEC	breast:	n/a
29	chrX:80068613-80068663	AG09309	skin:	n/a
30	chrX:80068613-80068663	MCF-7	breast:	n/a
31	chrX:80068613-80068663	SK-N-SH_RA	brain:	n/a
32	chrX:80068613-80068663	BE2_C	brain:	n/a
33	chrX:80068613-80068663	A549	lung:	n/a
34	chrX:80068613-80068663	CMK	blood:	n/a
35	chrX:80068613-80068663	NB4	blood:	n/a
36	chrX:80068613-80068663	SAEC	small airway:	n/a
37	chrX:80068613-80068663	HCM	heart:	n/a
38	chrX:80068613-80068663	Jurkat	blood:	n/a
39	chrX:80068613-80068663	SK-N-MC	brain:	n/a
40	chrX:80068613-80068663	HEK293	kidney:	embryo
41	chrX:80068613-80068663	Hela-S3	cervix:	n/a
42	chrX:80068613-80068663	AG10803	skin:	n/a
43	chrX:80068613-80068663	NHDF-neo	bronchial:	n/a
44	chrX:80068613-80068663	K562	blood:	n/a
45	chrX:80068613-80068663	IMR90	lung:	fetal
46	chrX:80068613-80068663	MCF10A-Er-Src	breast:	n/a
47	chrX:80068613-80068663	H1-hESC	embryonic stem cell:	embryo
48	chrX:80068613-80068663	U87	brain:	n/a
49	chrX:80068613-80068663	GM06990	blood:	n/a
50	chrX:80068613-80068663	ProgFib	skin:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:80067488..80068198-chrX:80376211..80376936,2	MCF-7	breast:
2	chrX:80098720..80100983-chrX:80101839..80103863,2	K562	blood:
3	chrX:80069067..80071673-chrX:80073607..80076127,2	K562	blood:
4	chrX:80069067..80071673-chrX:80073607..80076127,2	K562	blood:
5	chrX:80098720..80100983-chrX:80101839..80103863,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM46D-1	chrX:80067610-80068219	XLOC_008020

No data

Variant related genes	Relation type
ENSG00000239008	TF binding region
BRWD3	TF binding region
ENSG00000239008	CpG island
BRWD3	CpG island

Extended variants
information (count: 65 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5959729	chrX:80067870-80067871	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139952728	chrX:80067920-80067921	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs188310668	chrX:80067941-80067942	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs373632301	chrX:80067956-80067957	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs180712473	chrX:80068244-80068245	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186649742	chrX:80068332-80068333	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs191295751	chrX:80068378-80068379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181234142	chrX:80068387-80068388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377005929	chrX:80068690-80068691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374633520	chrX:80068717-80068718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186937510	chrX:80068744-80068745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147451650	chrX:80068784-80068785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12008593	chrX:80069028-80069029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554003938	chrX:80069062-80069063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190491830	chrX:80069077-80069078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12013149	chrX:80069220-80069221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572405947	chrX:80069259-80069260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372054718	chrX:80069303-80069304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376643560	chrX:80069320-80069321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187567331	chrX:80069383-80069384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545872384	chrX:80069453-80069454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189776007	chrX:80069454-80069455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182116526	chrX:80069525-80069526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375274728	chrX:80069611-80069612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199531071	chrX:80069657-80069658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538034047	chrX:80069713-80069714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187791581	chrX:80069768-80069769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145445891	chrX:80069824-80069825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371692183	chrX:80069962-80069963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61188593	chrX:80069963-80069964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192776912	chrX:80070104-80070105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184856717	chrX:80070110-80070111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574628606	chrX:80070529-80070530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188381651	chrX:80070651-80070652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377310808	chrX:80070670-80070671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148666499	chrX:80070747-80070748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368464834	chrX:80070756-80070757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142147111	chrX:80071049-80071050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558270051	chrX:80071134-80071135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151227162	chrX:80071160-80071161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371890486	chrX:80071201-80071202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374819619	chrX:80071249-80071250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12011162	chrX:80071289-80071290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4639646	chrX:80071375-80071376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191986153	chrX:80071385-80071386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35927875	chrX:80071386-80071387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144005857	chrX:80071426-80071427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184963334	chrX:80071542-80071543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3123264	chrX:80071712-80071713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189344755	chrX:80071723-80071724	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

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
Acute myeloid leukemia	20729466	CNVD
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80066000-80068600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chrX:80066200-80068200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chrX:80066200-80068400	Enhancers	Primary T cells from cord blood	blood
4	chrX:80066200-80068400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chrX:80066200-80068400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chrX:80066200-80068600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chrX:80066800-80068400	Enhancers	Dnd41	blood
8	chrX:80067200-80068200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chrX:80067200-80068400	Enhancers	Primary B cells from cord blood	blood
10	chrX:80067200-80068400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chrX:80067200-80068600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chrX:80067400-80068000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chrX:80067400-80068200	Enhancers	Primary B cells from peripheral blood	blood
14	chrX:80067400-80068200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chrX:80067400-80068200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chrX:80067600-80068000	Enhancers	Primary T cells fromperipheralblood	blood
17	chrX:80067600-80068000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chrX:80067600-80068000	Enhancers	Fetal Thymus	thymus
19	chrX:80067600-80068000	Enhancers	A549	lung
20	chrX:80067600-80068200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chrX:80067600-80068200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chrX:80067600-80068200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chrX:80067600-80068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chrX:80067600-80068200	Enhancers	GM12878-XiMat	blood
25	chrX:80067800-80068000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chrX:80067800-80068000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chrX:80067800-80068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chrX:80067800-80069000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chrX:80068000-80068200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
30	chrX:80068000-80068200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chrX:80068000-80069800	Weak transcription	A549	lung
32	chrX:80068200-80068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chrX:80068200-80070800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chrX:80068200-80071000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chrX:80068200-80071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chrX:80070800-80072600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chrX:80071000-80071200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chrX:80071000-80072600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chrX:80071200-80071400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chrX:80103000-80103600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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