Variant report

Variant	esv3392604
Chromosome Location	chrX:33644563-33845254
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	BACH1	chrX:33744440-33744569	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chrX:33664054-33664235	K562	blood:	n/a	n/a
3	BATF	chrX:33740096-33740342	GM12878	blood:	n/a	chrX:33740236-33740247
4	BATF	chrX:33740068-33740318	GM12878	blood:	n/a	chrX:33740236-33740247
5	CEBPB	chrX:33743990-33744283	H1-hESC	embryonic stem cell:	n/a	chrX:33744150-33744163
6	CEBPB	chrX:33721377-33721664	IMR90	lung:	n/a	n/a
7	CEBPB	chrX:33743559-33744298	Hela-S3	cervix:	n/a	chrX:33744150-33744163
8	CEBPB	chrX:33719408-33719679	IMR90	lung:	n/a	chrX:33719560-33719573 chrX:33719562-33719573 chrX:33719560-33719573
9	CEBPB	chrX:33694044-33694259	HepG2	liver:	n/a	chrX:33694166-33694175 chrX:33694164-33694177 chrX:33694165-33694176 chrX:33694166-33694175 chrX:33694164-33694175 chrX:33694166-33694175 chrX:33694164-33694175 chrX:33694164-33694177 chrX:33694166-33694175 chrX:33694164-33694177
10	CEBPB	chrX:33777155-33777651	HepG2	liver:	n/a	chrX:33777513-33777524
11	CEBPB	chrX:33814567-33814709	HepG2	liver:	n/a	n/a
12	CEBPB	chrX:33817354-33817485	HepG2	liver:	n/a	n/a
13	CEBPB	chrX:33777328-33777627	A549	lung:	n/a	chrX:33777513-33777524
14	CEBPB	chrX:33721379-33721637	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chrX:33719403-33719716	A549	lung:	n/a	chrX:33719560-33719573 chrX:33719562-33719573 chrX:33719560-33719573
16	CEBPB	chrX:33721446-33721650	HepG2	liver:	n/a	n/a
17	CEBPB	chrX:33721478-33721651	K562	blood:	n/a	n/a
18	CEBPB	chrX:33814536-33814661	IMR90	lung:	n/a	n/a
19	CEBPB	chrX:33721395-33721643	A549	lung:	n/a	n/a
20	CEBPB	chrX:33694032-33694348	IMR90	lung:	n/a	chrX:33694166-33694175 chrX:33694164-33694177 chrX:33694165-33694176 chrX:33694166-33694175 chrX:33694164-33694175 chrX:33694166-33694175 chrX:33694164-33694175 chrX:33694164-33694177 chrX:33694166-33694175 chrX:33694164-33694177
21	CEBPB	chrX:33777356-33777670	IMR90	lung:	n/a	chrX:33777513-33777524
22	CTBP2	chrX:33744029-33744708	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chrX:33683568-33683661	GM10248	blood:	n/a	n/a
24	CTCF	chrX:33768071-33768176	GM10248	blood:	n/a	n/a
25	CTCF	chrX:33759977-33760073	MCF-7	breast:	n/a	n/a
26	CTCF	chrX:33804154-33804206	LNCaP	prostate:	n/a	n/a
27	CTCF	chrX:33743822-33743838	HepG2	liver:	n/a	n/a
28	CTCF	chrX:33740062-33740104	ProgFib	skin:	n/a	n/a
29	CTCF	chrX:33799620-33799770	GM06990	blood:	n/a	n/a
30	CTCF	chrX:33760026-33760099	MCF-7	breast:	n/a	n/a
31	CTCF	chrX:33779519-33779637	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chrX:33829287-33829330	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chrX:33662937-33663002	GM10248	blood:	n/a	n/a
34	CTCF	chrX:33731145-33731180	Lung_OC	lung:	n/a	n/a
35	CTCF	chrX:33777956-33778012	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:33671991-33672055	GM20000	blood:	n/a	n/a
37	CTCF	chrX:33759946-33760105	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chrX:33720925-33720987	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chrX:33837556-33837630	GM20000	blood:	n/a	n/a
40	CTCF	chrX:33826880-33827030	HEK293	kidney:	n/a	n/a
41	CTCF	chrX:33764947-33764999	HepG2	liver:	n/a	n/a
42	CTCF	chrX:33652655-33652700	GM10248	blood:	n/a	n/a
43	CTCF	chrX:33760046-33760092	ProgFib	skin:	n/a	n/a
44	CTCF	chrX:33825010-33825083	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chrX:33778412-33778489	LNCaP	prostate:	n/a	n/a
46	CTCF	chrX:33774168-33774216	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chrX:33749399-33749467	LNCaP	prostate:	n/a	n/a
48	CTCF	chrX:33843253-33843323	GM10248	blood:	n/a	n/a
49	CTCF	chrX:33778110-33778171	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:33832517-33832562	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:33744176-33744226	GM12892	blood:	n/a
2	chrX:33744176-33744226	GM12892	blood:	n/a
3	chrX:33744453-33744503	SK-N-MC	brain:	n/a
4	chrX:33744176-33744226	NT2-D1	testis:	n/a
5	chrX:33744176-33744226	GM06990	blood:	n/a
6	chrX:33744453-33744503	HL-60	blood:	n/a
7	chrX:33744708-33744758	HUVEC	blood vessel:	n/a
8	chrX:33744947-33744997	ovcar-3	ovarian:	n/a
9	chrX:33744176-33744226	MCF-7	breast:	n/a
10	chrX:33744176-33744226	SK-N-SH	brain:	n/a
11	chrX:33743566-33743616	MCF10A-Er-Src	breast:	n/a
12	chrX:33744708-33744758	BJ	skin:	n/a
13	chrX:33745255-33745305	CMK	blood:	n/a
14	chrX:33743566-33743616	Jurkat	blood:	n/a
15	chrX:33740873-33740923	GM12892	blood:	n/a
16	chrX:33744453-33744503	AG04449	skin:	fetal
17	chrX:33744176-33744226	AG09319	gingival:	n/a
18	chrX:33743566-33743616	BJ	skin:	n/a
19	chrX:33743566-33743616	HEK293	kidney:	embryo
20	chrX:33744708-33744758	HCM	heart:	n/a
21	chrX:33744176-33744226	HIPEpiC	eye:	n/a
22	chrX:33743566-33743616	HCM	heart:	n/a
23	chrX:33740873-33740923	Hela-S3	cervix:	n/a
24	chrX:33744708-33744758	GM19239	blood:	n/a
25	chrX:33744176-33744226	H1-hESC	embryonic stem cell:	embryo
26	chrX:33744453-33744503	MCF-7	breast:	n/a
27	chrX:33744947-33744997	PFSK-1	brain:	n/a
28	chrX:33743566-33743616	SAEC	small airway:	n/a
29	chrX:33744453-33744503	HCF	heart:	n/a
30	chrX:33744708-33744758	IMR90	lung:	fetal
31	chrX:33744708-33744758	SK-N-MC	brain:	n/a
32	chrX:33744947-33744997	A549	lung:	n/a
33	chrX:33745255-33745305	HMEC	breast:	n/a
34	chrX:33744176-33744226	T-47D	breast:	n/a
35	chrX:33744453-33744503	IMR90	lung:	fetal
36	chrX:33740873-33740923	MCF-7	breast:	n/a
37	chrX:33744708-33744758	ProgFib	skin:	n/a
38	chrX:33744708-33744758	RPTEC	kidney:	n/a
39	chrX:33745255-33745305	AoSMC	blood vessel:	n/a
40	chrX:33745255-33745305	HEK293	kidney:	embryo
41	chrX:33740873-33740923	HRE	kidney:	n/a
42	chrX:33744947-33744997	SAEC	small airway:	n/a
43	chrX:33743566-33743616	HRPEpiC	eye:	n/a
44	chrX:33744453-33744503	SAEC	small airway:	n/a
45	chrX:33744708-33744758	HNPCEpiC	eye:	n/a
46	chrX:33745255-33745305	GM19239	blood:	n/a
47	chrX:33744947-33744997	RPTEC	kidney:	n/a
48	chrX:33744453-33744503	GM12892	blood:	n/a
49	chrX:33744947-33744997	HCM	heart:	n/a
50	chrX:33744947-33744997	HPAEpiC	pulmonary alveolar:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM47B-3	chrX:33670156-33670172	NONHSAT136605
2	lnc-FAM47B-1	chrX:33760235-33760251	XLOC_007947
3	lnc-FAM47B-1	chrX:33744575-33744752	NONHSAT136606
4	lnc-FAM47B-3	chrX:33654546-33654673	NONHSAT136604
5	lnc-FAM47B-3	chrX:33781653-33781753	NONHSAT136604
6	lnc-FAM47B-1	chrX:33744625-33744752	XLOC_007947
7	lnc-FAM47B-1	chrX:33760234-33760251	NONHSAT136607
8	lnc-FAM47B-1	chrX:33744624-33744752	NONHSAT136607
9	lnc-FAM47B-3	chrX:33781653-33781753	NONHSAT136605

Variant related genes	Relation type
ENSG00000233928	TF binding region
ENSG00000233928	CpG island
SLC25A30	miRNA target sites

Extended variants
information (count: 358 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146079544	chrX:33654554-33654555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138861638	chrX:33654558-33654559	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374907136	chrX:33654576-33654577	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185533206	chrX:33654614-33654615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs189126240	chrX:33654653-33654654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs5972939	chrX:33712422-33712423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192512029	chrX:33712522-33712523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557317146	chrX:33712646-33712647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75787137	chrX:33712674-33712675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146177369	chrX:33712764-33712765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375472836	chrX:33712833-33712834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5972940	chrX:33712890-33712891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35143925	chrX:33712978-33712979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143871143	chrX:33713038-33713039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12847215	chrX:33713051-33713052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150878346	chrX:33713092-33713093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185529435	chrX:33713232-33713233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187653660	chrX:33713284-33713285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7471646	chrX:33713407-33713408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371598230	chrX:33713472-33713473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545522315	chrX:33713476-33713477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5928340	chrX:33713570-33713571	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs111236578	chrX:33713656-33713657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184909429	chrX:33713708-33713709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113449483	chrX:33740041-33740042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs6628816	chrX:33740061-33740062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs182788553	chrX:33740073-33740074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142756844	chrX:33740171-33740172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11291089	chrX:33741605-33741606	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145078839	chrX:33741720-33741721	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147564717	chrX:33741784-33741785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140338522	chrX:33741993-33741994	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs188491073	chrX:33742011-33742012	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs527812879	chrX:33742149-33742150	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs193111844	chrX:33742230-33742231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12391574	chrX:33742262-33742263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201668447	chrX:33742549-33742550	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12011269	chrX:33742592-33742593	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs375842853	chrX:33742598-33742599	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs12006765	chrX:33742673-33742674	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs16991088	chrX:33742961-33742962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs184588058	chrX:33742990-33742991	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs188263033	chrX:33743057-33743058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs180781484	chrX:33743216-33743217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs145789421	chrX:33743325-33743326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs80226882	chrX:33743339-33743340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs376770374	chrX:33743342-33743343	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs6631834	chrX:33743414-33743415	Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35989013	chrX:33743470-33743471	Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201203402	chrX:33743479-33743480	Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Mental retardation	17406619	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Chronic granulomatous disease	22383943	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:33712400-33713400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chrX:33712400-33713800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chrX:33712800-33713400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chrX:33741600-33746000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chrX:33743200-33744000	Active TSS	Fetal Stomach	stomach
6	chrX:33743400-33743600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chrX:33743400-33744000	Active TSS	Fetal Muscle Leg	muscle
8	chrX:33743400-33744000	Active TSS	Stomach Smooth Muscle	stomach
9	chrX:33743400-33744200	Active TSS	HMEC	breast
10	chrX:33743400-33744400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chrX:33743400-33744400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chrX:33743400-33744400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chrX:33743400-33744400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chrX:33743400-33744400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chrX:33743400-33744400	Active TSS	HUVEC	blood vessel
16	chrX:33743400-33744800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
17	chrX:33743400-33744800	Active TSS	Muscle Satellite Cultured Cells	--
18	chrX:33743400-33744800	Active TSS	Brain Hippocampus Middle	brain
19	chrX:33743400-33745200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chrX:33743400-33745200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chrX:33743400-33745200	Active TSS	Brain Angular Gyrus	brain
22	chrX:33743400-33745200	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chrX:33743400-33745800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chrX:33743400-33746000	Active TSS	Aorta	Aorta
25	chrX:33743600-33743800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chrX:33743600-33743800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chrX:33743600-33743800	Enhancers	Adipose Nuclei	Adipose
28	chrX:33743600-33743800	Enhancers	Brain Germinal Matrix	brain
29	chrX:33743600-33743800	Active TSS	Fetal Muscle Trunk	muscle
30	chrX:33743600-33743800	Bivalent/Poised TSS	Ovary	ovary
31	chrX:33743600-33744000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:33743600-33744000	Enhancers	Fetal Heart	heart
33	chrX:33743600-33744200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:33743600-33744200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chrX:33743600-33744200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chrX:33743600-33744200	Enhancers	Liver	Liver
37	chrX:33743600-33744200	Active TSS	Hela-S3	cervix
38	chrX:33743600-33744200	Active TSS	NHEK	skin
39	chrX:33743600-33744400	Active TSS	H1 Cell Line	embryonic stem cell
40	chrX:33743600-33744400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chrX:33743600-33744400	Active TSS	Brain Substantia Nigra	brain
42	chrX:33743600-33744400	Active TSS	Fetal Lung	lung
43	chrX:33743600-33744400	Active TSS	A549	lung
44	chrX:33743600-33744600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chrX:33743600-33744600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chrX:33743600-33744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chrX:33743600-33744800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chrX:33743600-33744800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chrX:33743600-33744800	Active TSS	Brain Anterior Caudate	brain
50	chrX:33743600-33744800	Active TSS	Colon Smooth Muscle	Colon

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