Variant report

Variant	esv3416705
Chromosome Location	chrX:31099481-31213379
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:31172207-31172260	K562	blood:	n/a	n/a
2	ARID3A	chrX:31183400-31183764	HepG2	liver:	n/a	n/a
3	ATF1	chrX:31125036-31125173	K562	blood:	n/a	n/a
4	ATF2	chrX:31154117-31154945	GM12878	blood:	n/a	n/a
5	ATF2	chrX:31186632-31187136	GM12878	blood:	n/a	n/a
6	ATF2	chrX:31186670-31187080	GM12878	blood:	n/a	n/a
7	ATF2	chrX:31117552-31118280	GM12878	blood:	n/a	n/a
8	ATF2	chrX:31117561-31118277	GM12878	blood:	n/a	n/a
9	ATF2	chrX:31154182-31154811	GM12878	blood:	n/a	n/a
10	ATF2	chrX:31196237-31196643	GM12878	blood:	n/a	n/a
11	BACH1	chrX:31145874-31146143	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chrX:31117669-31118201	GM12878	blood:	n/a	chrX:31117819-31117829 chrX:31117815-31117825 chrX:31118077-31118087
13	BATF	chrX:31196285-31196655	GM12878	blood:	n/a	n/a
14	BATF	chrX:31196293-31196544	GM12878	blood:	n/a	n/a
15	BATF	chrX:31186684-31187165	GM12878	blood:	n/a	n/a
16	BATF	chrX:31111146-31111439	GM12878	blood:	n/a	n/a
17	BATF	chrX:31111149-31111487	GM12878	blood:	n/a	n/a
18	BATF	chrX:31186736-31187084	GM12878	blood:	n/a	n/a
19	BATF	chrX:31117583-31118278	GM12878	blood:	n/a	chrX:31117819-31117829 chrX:31117815-31117825 chrX:31118077-31118087
20	BCL11A	chrX:31186697-31187133	GM12878	blood:	n/a	chrX:31186888-31186897
21	BCL11A	chrX:31117663-31118187	GM12878	blood:	n/a	chrX:31117817-31117826 chrX:31117818-31117827
22	BCL11A	chrX:31154408-31154782	GM12878	blood:	n/a	chrX:31154449-31154458
23	BCL11A	chrX:31154184-31154709	GM12878	blood:	n/a	chrX:31154449-31154458
24	BCL11A	chrX:31117712-31118209	GM12878	blood:	n/a	chrX:31117817-31117826 chrX:31117818-31117827
25	BCL11A	chrX:31196244-31196612	GM12878	blood:	n/a	n/a
26	BCL3	chrX:31117633-31118037	GM12878	blood:	n/a	chrX:31117817-31117826 chrX:31117818-31117827
27	BCLAF1	chrX:31154135-31154617	GM12878	blood:	n/a	chrX:31154449-31154458
28	BCLAF1	chrX:31186646-31187181	GM12878	blood:	n/a	chrX:31186888-31186897
29	BCLAF1	chrX:31117653-31118242	GM12878	blood:	n/a	chrX:31117817-31117826 chrX:31117818-31117827
30	BCLAF1	chrX:31154209-31154675	GM12878	blood:	n/a	chrX:31154449-31154458
31	BHLHE40	chrX:31153943-31154751	GM12878	blood:	n/a	n/a
32	BHLHE40	chrX:31186665-31187105	GM12878	blood:	n/a	n/a
33	BHLHE40	chrX:31196027-31196924	GM12878	blood:	n/a	n/a
34	BHLHE40	chrX:31117576-31118214	GM12878	blood:	n/a	n/a
35	BRCA1	chrX:31113173-31113227	GM12878	blood:	n/a	n/a
36	BRCA1	chrX:31117487-31117758	GM12878	blood:	n/a	n/a
37	BRCA1	chrX:31131040-31131048	GM12878	blood:	n/a	n/a
38	CBX3	chrX:31156316-31156531	K562	blood:	n/a	n/a
39	CEBPB	chrX:31116328-31116483	K562	blood:	n/a	n/a
40	CEBPB	chrX:31212207-31212300	K562	blood:	n/a	n/a
41	CEBPB	chrX:31183172-31183517	IMR90	lung:	n/a	chrX:31183347-31183360 chrX:31183349-31183360 chrX:31183347-31183358
42	CEBPB	chrX:31102611-31102836	HepG2	liver:	n/a	chrX:31102735-31102746 chrX:31102737-31102748 chrX:31102755-31102772
43	CEBPB	chrX:31176631-31176719	K562	blood:	n/a	n/a
44	CEBPB	chrX:31183187-31183466	HepG2	liver:	n/a	chrX:31183347-31183360 chrX:31183349-31183360 chrX:31183347-31183358
45	CEBPB	chrX:31116316-31116514	IMR90	lung:	n/a	n/a
46	CEBPB	chrX:31132359-31132559	HepG2	liver:	n/a	chrX:31132430-31132441
47	CHD1	chrX:31193869-31194041	GM12878	blood:	n/a	n/a
48	CHD1	chrX:31195876-31196292	GM12878	blood:	n/a	n/a
49	CHD2	chrX:31153996-31154810	GM12878	blood:	n/a	n/a
50	CHD2	chrX:31117583-31118297	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:31133674..31135959-chrX:31146518..31148093,2	K562	blood:
2	chrX:31135102..31137027-chrX:31138705..31140641,2	K562	blood:
3	chrX:31104737..31107082-chrX:31108473..31110172,2	MCF-7	breast:
4	chrX:31133674..31135959-chrX:31146518..31148093,2	K562	blood:
5	chrX:31134552..31137060-chrX:31137454..31140316,3	K562	blood:
6	chrX:31134552..31137060-chrX:31137454..31140316,3	K562	blood:
7	chrX:31104737..31107082-chrX:31108473..31110172,2	MCF-7	breast:
8	chrX:31187066..31189553-chrX:31205501..31208168,2	K562	blood:
9	chrX:31130926..31133763-chrX:31142047..31144791,2	K562	blood:
10	chrX:31135102..31137027-chrX:31138705..31140641,2	K562	blood:
11	chrX:31130926..31133763-chrX:31142047..31144791,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GK-3	chrX:31115794-31116300	ENSG00000244186.1
2	lnc-GK-3	chrX:31187560-31187673	ENSG00000244186.1

No.	miRNA target gene	miRNA name	Chromosome Location
1	DMD	hsa-miR-21-5p	chrX:31196638-31196659
2	DMD	hsa-miR-16-5p	chrX:31138963-31138985
3	DMD	hsa-miR-31-5p	chrX:31139705-31139699
4	DMD	hsa-let-7b-5p	chrX:31138101-31138094
5	DMD	hsa-let-7b-5p	chrX:31138095-31138115
6	DMD	hsa-miR-31-5p	chrX:31139700-31139720

Variant related genes	Relation type
DMD	TF binding region
ENSG00000198947	chromatin interactions

Extended variants
information (count: 1735 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1735 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2109413	chrX:31105017-31105018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs402343	chrX:31105092-31105093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181860948	chrX:31105151-31105152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs438350	chrX:31105174-31105175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187029831	chrX:31105266-31105267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113758136	chrX:31105353-31105354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138803227	chrX:31105458-31105459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2058285	chrX:31105495-31105496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs386824586	chrX:31105518-31105519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376615	chrX:31105520-31105521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184991219	chrX:31108666-31108667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141461196	chrX:31108693-31108694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188978885	chrX:31108730-31108731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187494989	chrX:31109631-31109632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138837064	chrX:31109683-31109684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190829067	chrX:31109719-31109720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183307892	chrX:31109780-31109781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188039381	chrX:31109898-31109899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193269468	chrX:31110000-31110001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141968879	chrX:31110009-31110010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375530777	chrX:31110028-31110029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112757533	chrX:31110086-31110087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182458199	chrX:31110093-31110094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187883594	chrX:31110103-31110104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111830193	chrX:31110211-31110212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs441341	chrX:31110227-31110228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572154377	chrX:31110242-31110243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115403247	chrX:31110623-31110624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192562548	chrX:31110630-31110631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184128504	chrX:31110674-31110675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144075295	chrX:31110739-31110740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1882370	chrX:31110777-31110778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148662173	chrX:31110827-31110828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192214323	chrX:31110905-31110906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75360730	chrX:31110934-31110935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5901970	chrX:31110935-31110936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546790384	chrX:31111029-31111030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539886234	chrX:31111032-31111033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184644856	chrX:31111158-31111159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142944532	chrX:31111184-31111185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147432018	chrX:31111406-31111407	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139723773	chrX:31111552-31111553	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189182976	chrX:31111674-31111675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182462480	chrX:31111730-31111731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113739959	chrX:31111759-31111760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145043980	chrX:31111794-31111795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189487053	chrX:31111838-31111839	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs370786517	chrX:31111889-31111890	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150923675	chrX:31111892-31111893	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs139529970	chrX:31111893-31111894	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31105000-31105600	Enhancers	Fetal Intestine Large	intestine
2	chrX:31108600-31108800	Enhancers	GM12878-XiMat	blood
3	chrX:31109600-31110400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:31109800-31111400	Enhancers	GM12878-XiMat	blood
5	chrX:31110000-31110400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chrX:31110400-31111000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chrX:31110600-31111200	Enhancers	HSMMtube	muscle
8	chrX:31111000-31111200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:31111400-31111600	Flanking Active TSS	GM12878-XiMat	blood
10	chrX:31111600-31111800	Enhancers	GM12878-XiMat	blood
11	chrX:31111800-31112000	Flanking Active TSS	GM12878-XiMat	blood
12	chrX:31112000-31113600	Enhancers	GM12878-XiMat	blood
13	chrX:31114800-31117400	Weak transcription	Right Atrium	heart
14	chrX:31115600-31115800	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chrX:31115800-31116000	Enhancers	Aorta	Aorta
16	chrX:31117200-31118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chrX:31117200-31119400	Enhancers	GM12878-XiMat	blood
18	chrX:31117400-31117800	Enhancers	Right Atrium	heart
19	chrX:31117400-31118000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chrX:31117400-31118400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chrX:31117600-31118000	Enhancers	HMEC	breast
22	chrX:31117800-31118200	Enhancers	Primary B cells from peripheral blood	blood
23	chrX:31118000-31118600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chrX:31118600-31118800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chrX:31120000-31120800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chrX:31120800-31125000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chrX:31125000-31125400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chrX:31130200-31130400	Enhancers	HSMMtube	muscle
29	chrX:31130200-31131200	Enhancers	Muscle Satellite Cultured Cells	--
30	chrX:31130600-31131000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chrX:31130800-31131000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:31131000-31144400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chrX:31131000-31149400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chrX:31131200-31144000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chrX:31131800-31132000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
36	chrX:31131800-31132000	Enhancers	Aorta	Aorta
37	chrX:31132000-31133800	Weak transcription	Aorta	Aorta
38	chrX:31132400-31132800	Enhancers	Left Ventricle	heart
39	chrX:31132400-31134000	Enhancers	Ovary	ovary
40	chrX:31132600-31132800	Enhancers	Fetal Muscle Trunk	muscle
41	chrX:31132600-31134000	Enhancers	Fetal Heart	heart
42	chrX:31132800-31133200	Weak transcription	HSMMtube	muscle
43	chrX:31132800-31133400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chrX:31132800-31135600	Weak transcription	Left Ventricle	heart
45	chrX:31132800-31143400	Weak transcription	Fetal Muscle Trunk	muscle
46	chrX:31133200-31133400	Enhancers	Colon Smooth Muscle	Colon
47	chrX:31133200-31133400	Enhancers	HSMMtube	muscle
48	chrX:31133400-31133600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chrX:31133400-31135600	Weak transcription	HSMMtube	muscle
50	chrX:31133400-31156200	Weak transcription	Colon Smooth Muscle	Colon

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