Variant report

Variant	esv15228
Chromosome Location	chrX:57600617-57618003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:183)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:57617946-57618343	HepG2	liver:	n/a	n/a
2	BACH1	chrX:57609921-57610196	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chrX:57617877-57618371	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chrX:57609600-57609827	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chrX:57617890-57618471	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chrX:57609488-57609835	Hela-S3	cervix:	n/a	n/a
7	CHD2	chrX:57617913-57618376	Hela-S3	cervix:	n/a	n/a
8	CTCF	chrX:57609484-57609636	GM13976	blood:	n/a	n/a
9	CTCF	chrX:57609160-57609310	HCFaa	heart:	n/a	n/a
10	CTCF	chrX:57609374-57609774	K562	blood:	n/a	n/a
11	CTCF	chrX:57613120-57613270	GM12864	blood:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
12	CTCF	chrX:57609408-57609419	K562	blood:	n/a	n/a
13	CTCF	chrX:57613120-57613270	AG10803	skin:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
14	CTCF	chrX:57613040-57613190	HepG2	liver:	n/a	n/a
15	CTCF	chrX:57609466-57609659	NHEK	skin:	n/a	n/a
16	CTCF	chrX:57609500-57609650	GM12875	blood:	n/a	n/a
17	CTCF	chrX:57609427-57609691	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chrX:57609460-57609610	BE2_C	brain:	n/a	n/a
19	CTCF	chrX:57609429-57609679	LNCaP	prostate:	n/a	n/a
20	CTCF	chrX:57609520-57609670	AoAF	blood vessel:	n/a	n/a
21	CTCF	chrX:57609480-57609630	MCF-7	breast:	n/a	n/a
22	CTCF	chrX:57609480-57609630	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chrX:57609235-57609250	ProgFib	skin:	n/a	n/a
24	CTCF	chrX:57609440-57609590	AG09309	skin:	n/a	n/a
25	CTCF	chrX:57609440-57609675	Hela-S3	cervix:	n/a	n/a
26	CTCF	chrX:57609385-57609631	K562	blood:	n/a	n/a
27	CTCF	chrX:57609480-57609630	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chrX:57609480-57609630	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chrX:57609435-57609682	ProgFib	skin:	n/a	n/a
30	CTCF	chrX:57613190-57613339	HUVEC	blood vessel:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
31	CTCF	chrX:57609014-57609137	GM19239	blood:	n/a	n/a
32	CTCF	chrX:57609400-57609550	A549	lung:	n/a	n/a
33	CTCF	chrX:57609500-57609650	AG10803	skin:	n/a	n/a
34	CTCF	chrX:57613100-57613250	GM06990	blood:	n/a	n/a
35	CTCF	chrX:57609540-57609690	HCT-116	colon:	n/a	n/a
36	CTCF	chrX:57609180-57609330	GM06990	blood:	n/a	n/a
37	CTCF	chrX:57613220-57613283	GM12892	blood:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
38	CTCF	chrX:57609460-57609610	HCM	heart:	n/a	n/a
39	CTCF	chrX:57609500-57609650	GM12873	blood:	n/a	n/a
40	CTCF	chrX:57611561-57611585	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chrX:57609423-57609738	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chrX:57609460-57609610	GM12872	blood:	n/a	n/a
43	CTCF	chrX:57609400-57609550	GM12869	blood:	n/a	n/a
44	CTCF	chrX:57613171-57613340	K562	blood:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
45	CTCF	chrX:57609540-57609690	A549	lung:	n/a	n/a
46	CTCF	chrX:57609480-57609630	HMF	breast:	n/a	n/a
47	CTCF	chrX:57613084-57613369	K562	blood:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268
48	CTCF	chrX:57609500-57609650	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chrX:57609424-57609766	GM19239	blood:	n/a	n/a
50	CTCF	chrX:57613172-57613322	MCF-7	breast:	n/a	chrX:57613252-57613270 chrX:57613253-57613269 chrX:57613247-57613268

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:57616301-57616351	SK-N-SH_RA	brain:	n/a
2	chrX:57617470-57617520	HCPEpiC	choroid plexus:	n/a
3	chrX:57617561-57617611	MCF-7	breast:	n/a
4	chrX:57616301-57616351	NHDF-neo	bronchial:	n/a
5	chrX:57617561-57617611	HL-60	blood:	n/a
6	chrX:57617561-57617611	HIPEpiC	eye:	n/a
7	chrX:57616301-57616351	LNCaP	prostate:	n/a
8	chrX:57617561-57617611	HPAEpiC	pulmonary alveolar:	n/a
9	chrX:57616301-57616351	AG09319	gingival:	n/a
10	chrX:57616301-57616351	HMEC	breast:	n/a
11	chrX:57617561-57617611	AG09309	skin:	n/a
12	chrX:57616301-57616351	HPAEpiC	pulmonary alveolar:	n/a
13	chrX:57617470-57617520	HMEC	breast:	n/a
14	chrX:57616301-57616351	BE2_C	brain:	n/a
15	chrX:57617470-57617520	HCF	heart:	n/a
16	chrX:57617470-57617520	HIPEpiC	eye:	n/a
17	chrX:57617561-57617611	BE2_C	brain:	n/a
18	chrX:57616301-57616351	Hepatocyte	liver:	n/a
19	chrX:57617561-57617611	Hepatocyte	liver:	n/a
20	chrX:57616301-57616351	AoSMC	blood vessel:	n/a
21	chrX:57616301-57616351	Jurkat	blood:	n/a
22	chrX:57616301-57616351	ProgFib	skin:	n/a
23	chrX:57617470-57617520	U87	brain:	n/a
24	chrX:57617470-57617520	HRE	kidney:	n/a
25	chrX:57617470-57617520	PFSK-1	brain:	n/a
26	chrX:57617470-57617520	HRPEpiC	eye:	n/a
27	chrX:57617561-57617611	GM06990	blood:	n/a
28	chrX:57616301-57616351	HRPEpiC	eye:	n/a
29	chrX:57616301-57616351	HepG2	liver:	n/a
30	chrX:57616301-57616351	SK-N-MC	brain:	n/a
31	chrX:57617470-57617520	RPTEC	kidney:	n/a
32	chrX:57617470-57617520	Jurkat	blood:	n/a
33	chrX:57616301-57616351	MCF10A-Er-Src	breast:	n/a
34	chrX:57617561-57617611	HepG2	liver:	n/a
35	chrX:57617470-57617520	AG09309	skin:	n/a
36	chrX:57616301-57616351	HCF	heart:	n/a
37	chrX:57617470-57617520	MCF-7	breast:	n/a
38	chrX:57617561-57617611	ovcar-3	ovarian:	n/a
39	chrX:57617470-57617520	IMR90	lung:	fetal
40	chrX:57617561-57617611	AG04449	skin:	fetal
41	chrX:57617561-57617611	NHBE	bronchial:	n/a
42	chrX:57617561-57617611	SK-N-SH_RA	brain:	n/a
43	chrX:57617470-57617520	NHBE	bronchial:	n/a
44	chrX:57617470-57617520	HUVEC	blood vessel:	n/a
45	chrX:57616301-57616351	ovcar-3	ovarian:	n/a
46	chrX:57616301-57616351	RPTEC	kidney:	n/a
47	chrX:57616301-57616351	K562	blood:	n/a
48	chrX:57617470-57617520	Caco-2	colon:	n/a
49	chrX:57617561-57617611	HRPEpiC	eye:	n/a
50	chrX:57616301-57616351	GM19239	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:57599875..57600849-chrX:57955568..57956254,2	MCF-7	breast:
2	chrX:57601606..57603386-chrX:57604937..57607787,2	MCF-7	breast:
3	chrX:57601606..57603386-chrX:57604937..57607787,2	MCF-7	breast:
4	chrX:57614044..57616560-chrX:57623623..57626400,2	K562	blood:
5	chrX:57614423..57616273-chrX:57616637..57619351,2	MCF-7	breast:
6	chr3:179248693..179249390-chrX:57616388..57617183,2	MCF-7	breast:
7	chrX:57610731..57612693-chrX:57617782..57619539,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZXDB	TF binding region
ZXDB	CpG island
ENSG00000198455	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190244141	chrX:57600651-57600652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144964890	chrX:57600736-57600737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572709260	chrX:57600762-57600763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539990641	chrX:57600770-57600771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375088007	chrX:57609625-57609626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs191598528	chrX:57609719-57609720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs183490594	chrX:57609752-57609753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138752887	chrX:57609837-57609838	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547244801	chrX:57609907-57609908	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188132890	chrX:57609908-57609909	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113596133	chrX:57609996-57609997	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191656712	chrX:57610004-57610005	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs182281380	chrX:57610005-57610006	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs186605821	chrX:57610064-57610065	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs369229665	chrX:57610065-57610066	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs191142588	chrX:57610083-57610084	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs72621734	chrX:57610097-57610098	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs190478627	chrX:57610182-57610183	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs146237429	chrX:57610219-57610220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192985796	chrX:57610225-57610226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373237391	chrX:57610373-57610374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529779698	chrX:57610408-57610409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185275327	chrX:57610411-57610412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189705797	chrX:57610442-57610443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181212946	chrX:57610450-57610451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375149945	chrX:57610495-57610496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185578496	chrX:57610519-57610520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5961009	chrX:57610571-57610572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188378690	chrX:57610664-57610665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532147660	chrX:57610681-57610682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369154614	chrX:57610703-57610704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371499272	chrX:57610710-57610711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376006233	chrX:57610744-57610745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs180688117	chrX:57610825-57610826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371186331	chrX:57610862-57610863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200437793	chrX:57610938-57610939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187209929	chrX:57610939-57610940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs3021363	chrX:57610940-57610941	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192241968	chrX:57611063-57611064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181891569	chrX:57611084-57611085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs186868023	chrX:57611205-57611206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190239787	chrX:57611345-57611346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182579764	chrX:57611357-57611358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186899710	chrX:57611386-57611387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148599742	chrX:57611454-57611455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373983066	chrX:57611479-57611480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3021364	chrX:57611484-57611485	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536265574	chrX:57611487-57611488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547746625	chrX:57611543-57611544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566461677	chrX:57611590-57611591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:57600400-57600800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chrX:57609600-57610000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chrX:57609800-57610400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chrX:57609800-57610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chrX:57609800-57610600	Enhancers	Hela-S3	cervix
6	chrX:57610000-57610200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chrX:57610000-57610200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chrX:57610000-57610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:57610000-57610400	Enhancers	Brain Angular Gyrus	brain
10	chrX:57610200-57610600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:57610200-57610600	Enhancers	A549	lung
12	chrX:57610400-57613400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chrX:57610400-57616400	Weak transcription	Brain Angular Gyrus	brain
14	chrX:57613400-57613800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chrX:57613400-57614000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chrX:57613400-57614000	Enhancers	Dnd41	blood
17	chrX:57613400-57614200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:57613600-57613800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chrX:57613600-57614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chrX:57613800-57614200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chrX:57614000-57617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chrX:57614000-57617200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chrX:57614000-57617200	Weak transcription	Dnd41	blood
24	chrX:57614200-57614400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chrX:57614200-57614600	Enhancers	Primary B cells from peripheral blood	blood
26	chrX:57614200-57617000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chrX:57614200-57617200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chrX:57614400-57614800	Enhancers	GM12878-XiMat	blood
29	chrX:57614400-57617400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chrX:57614600-57617400	Weak transcription	Primary B cells from peripheral blood	blood
31	chrX:57614800-57617400	Weak transcription	GM12878-XiMat	blood
32	chrX:57616400-57616600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chrX:57616400-57616600	Enhancers	Brain Angular Gyrus	brain
34	chrX:57616600-57617400	Weak transcription	Brain Angular Gyrus	brain
35	chrX:57616800-57617400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chrX:57616800-57617400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chrX:57616800-57617600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chrX:57616800-57617600	Enhancers	Hela-S3	cervix
39	chrX:57616800-57617800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chrX:57617000-57618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chrX:57617200-57617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chrX:57617200-57617400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chrX:57617200-57617400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chrX:57617200-57617400	Active TSS	Liver	Liver
45	chrX:57617200-57617400	Enhancers	Brain Anterior Caudate	brain
46	chrX:57617200-57617400	Enhancers	Brain Cingulate Gyrus	brain
47	chrX:57617200-57617400	Enhancers	Brain Hippocampus Middle	brain
48	chrX:57617200-57617400	Enhancers	Fetal Lung	lung
49	chrX:57617200-57617400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chrX:57617200-57617400	Enhancers	Dnd41	blood

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