Variant report

Variant	esv2830082
Chromosome Location	chrX:73564051-73635867
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:73563894-73564181	K562	blood:	n/a	n/a
2	BATF	chrX:73563765-73564066	GM12878	blood:	n/a	n/a
3	BATF	chrX:73628187-73628495	GM12878	blood:	n/a	chrX:73628313-73628324
4	BCL3	chrX:73563586-73564233	A549	lung:	n/a	n/a
5	BCL3	chrX:73563545-73564257	A549	lung:	n/a	n/a
6	BHLHE40	chrX:73602613-73602769	GM12878	blood:	n/a	n/a
7	BHLHE40	chrX:73563895-73564226	GM12878	blood:	n/a	n/a
8	CCNT2	chrX:73565974-73566295	K562	blood:	n/a	n/a
9	CCNT2	chrX:73563336-73564150	K562	blood:	n/a	n/a
10	CEBPB	chrX:73626818-73626895	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:73563671-73564067	IMR90	lung:	n/a	n/a
12	CEBPB	chrX:73601639-73601822	H1-hESC	embryonic stem cell:	n/a	chrX:73601718-73601729
13	CEBPB	chrX:73571787-73572026	K562	blood:	n/a	n/a
14	CEBPB	chrX:73601636-73601836	A549	lung:	n/a	chrX:73601718-73601729
15	CEBPB	chrX:73563699-73564161	A549	lung:	n/a	n/a
16	CEBPB	chrX:73563938-73564187	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chrX:73601569-73601906	HepG2	liver:	n/a	chrX:73601718-73601729
18	CEBPB	chrX:73633554-73633734	IMR90	lung:	n/a	n/a
19	CEBPB	chrX:73591364-73591610	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chrX:73589611-73589886	IMR90	lung:	n/a	n/a
21	CEBPB	chrX:73591361-73591582	IMR90	lung:	n/a	n/a
22	CEBPB	chrX:73601597-73601853	IMR90	lung:	n/a	chrX:73601718-73601729
23	CEBPD	chrX:73571724-73572073	K562	blood:	n/a	n/a
24	CTCF	chrX:73603580-73603730	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chrX:73602540-73602690	GM12868	blood:	n/a	n/a
26	CTCF	chrX:73602660-73602810	HA-sp	spinal cord:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
27	CTCF	chrX:73565905-73565927	MCF-7	breast:	n/a	n/a
28	CTCF	chrX:73602640-73602790	GM12875	blood:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
29	CTCF	chrX:73563909-73564105	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chrX:73563960-73564110	GM12871	blood:	n/a	n/a
31	CTCF	chrX:73603520-73603670	GM12864	blood:	n/a	n/a
32	CTCF	chrX:73602640-73602790	HRPEpiC	eye:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
33	CTCF	chrX:73602700-73602850	HFF	foreskin:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718
34	CTCF	chrX:73603540-73603690	HCFaa	heart:	n/a	n/a
35	CTCF	chrX:73563960-73564110	GM12874	blood:	n/a	n/a
36	CTCF	chrX:73563940-73564090	GM12868	blood:	n/a	n/a
37	CTCF	chrX:73602622-73602836	Kidney_OC	kidney:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
38	CTCF	chrX:73563940-73564090	MCF-7	breast:	n/a	n/a
39	CTCF	chrX:73603422-73603812	GM12878	blood:	n/a	n/a
40	CTCF	chrX:73603560-73603710	HCT-116	colon:	n/a	n/a
41	CTCF	chrX:73564240-73564390	GM12875	blood:	n/a	n/a
42	CTCF	chrX:73602564-73602858	Pancreas_OC	pancreas:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
43	CTCF	chrX:73602660-73602810	AoAF	blood vessel:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
44	CTCF	chrX:73564000-73564150	GM12801	blood:	n/a	n/a
45	CTCF	chrX:73603470-73603756	HepG2	liver:	n/a	n/a
46	CTCF	chrX:73563916-73564194	Medullo	brain:	n/a	n/a
47	CTCF	chrX:73602603-73602765	A549	lung:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
48	CTCF	chrX:73619810-73619891	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chrX:73602640-73602790	RPTEC	kidney:	n/a	chrX:73602703-73602716 chrX:73602701-73602719 chrX:73602707-73602716 chrX:73602702-73602718 chrX:73602696-73602717
50	CTCF	chrX:73563892-73564120	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:73628815..73631283-chrX:73634006..73636206,2	MCF-7	breast:
2	chrX:73626645..73629607-chrX:73634521..73637156,2	MCF-7	breast:
3	chrX:73602581..73603332-chrX:73678366..73679146,2	MCF-7	breast:
4	chrX:73633364..73636722-chrX:73640079..73643390,3	MCF-7	breast:
5	chrX:73603018..73603600-chrX:73640981..73641874,2	MCF-7	breast:
6	chrX:73603244..73604146-chrX:73678258..73678803,3	MCF-7	breast:
7	chrX:73603198..73603899-chrX:73754929..73756065,4	MCF-7	breast:
8	chrX:73564172..73566184-chrX:73572530..73575496,2	MCF-7	breast:
9	chrX:73634535..73636449-chrX:73644492..73646504,2	MCF-7	breast:
10	chrX:73564172..73566184-chrX:73572530..73575496,2	MCF-7	breast:
11	chrX:73602336..73604081-chrX:73769869..73770828,9	MCF-7	breast:
12	chr10:81680859..81681612-chrX:73585248..73585771,2	HCT-116	colon:
13	chrX:73565416..73566092-chrX:73769898..73770502,2	MCF-7	breast:
14	chrX:73075052..73075793-chrX:73563582..73564389,3	MCF-7	breast:
15	chrX:73602542..73604081-chrX:73769813..73770867,20	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RLIM-7	chrX:73595960-73596720	NONHSAT137636
2	lnc-SLC16A2-1	chrX:73610527-73610822	NONHSAT137637
3	lnc-RLIM-1	chrX:73633219-73633224	XLOC_008188
4	lnc-RLIM-1	chrX:73635238-73635396	XLOC_008188

Variant related genes	Relation type
PRKRIRP1	TF binding region
RN7SL790P	TF binding region
RPS7P14	TF binding region
ENSG00000213269	TF binding region
ENSG00000226515	TF binding region
ENSG00000213695	chromatin interactions
ENSG00000147100	chromatin interactions
ANKRD52	miRNA target sites
OTUD1	miRNA target sites

Extended variants
information (count: 297 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1263240	chrX:73564051-73564052	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186725326	chrX:73564152-73564153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554801084	chrX:73564163-73564164	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs6647469	chrX:73564188-73564189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376932059	chrX:73564288-73564289	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs113010516	chrX:73564322-73564323	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192029627	chrX:73564364-73564365	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112653458	chrX:73564370-73564371	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs368731625	chrX:73564419-73564420	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558397874	chrX:73564506-73564507	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111962253	chrX:73564521-73564522	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs579796	chrX:73564623-73564624	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs145206130	chrX:73564699-73564700	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182903934	chrX:73564735-73564736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144990341	chrX:73564771-73564772	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs1263239	chrX:73564849-73564850	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs575003990	chrX:73564904-73564905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186613837	chrX:73564914-73564915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111268551	chrX:73564965-73564966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189548714	chrX:73565011-73565012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370307098	chrX:73565026-73565027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34165823	chrX:73565143-73565144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs6647470	chrX:73565146-73565147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs6647471	chrX:73565251-73565252	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs1004495	chrX:73565284-73565285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377056402	chrX:73565317-73565318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1004494	chrX:73565458-73565459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6647472	chrX:73565530-73565531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551458424	chrX:73565587-73565588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374244741	chrX:73565594-73565595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371323983	chrX:73565597-73565598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372052738	chrX:73565598-73565599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369687895	chrX:73565599-73565600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5902725	chrX:73565634-73565635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397896390	chrX:73565645-73565646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34919137	chrX:73565654-73565655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs35614283	chrX:73565754-73565755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182205527	chrX:73565989-73565990	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373331324	chrX:73566030-73566031	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs141167227	chrX:73566129-73566130	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs186819149	chrX:73566295-73566296	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs192453160	chrX:73566407-73566408	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs145165977	chrX:73566432-73566433	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs71916720	chrX:73566449-73566450	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs10577683	chrX:73566450-73566451	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs184182399	chrX:73566573-73566574	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146867524	chrX:73566578-73566579	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201338948	chrX:73566656-73566657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188285659	chrX:73566657-73566658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193177906	chrX:73566758-73566759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Glioblastoma multiforme	22286061	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Mental retardation	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
Lujan-Fryns syndrom	21572526	CNVD
Opitz-Kaveggia syndrome	21572526	CNVD
Cerebellar atrophy	21569638	CNVD
X-linked sideroblastic anemia	21569638	CNVD
Mental retardation	21572526	CNVD
ATR-X Syndrome	22470819	CNVD
Breast cancer	21611746	CNVD
Breast cancer	19602461	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73562600-73564200	Enhancers	Stomach Mucosa	stomach
2	chrX:73562600-73564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chrX:73562800-73564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chrX:73562800-73564600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chrX:73562800-73564600	Enhancers	Hela-S3	cervix
6	chrX:73563200-73564400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chrX:73563200-73564600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chrX:73563200-73564600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chrX:73563200-73564600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chrX:73563400-73564200	Enhancers	Adipose Nuclei	Adipose
11	chrX:73563400-73564200	Enhancers	Osteobl	bone
12	chrX:73563600-73564200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chrX:73563600-73564600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chrX:73563600-73568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chrX:73563800-73564400	Enhancers	Primary B cells from peripheral blood	blood
16	chrX:73563800-73564400	Enhancers	A549	lung
17	chrX:73564000-73564400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chrX:73564000-73565400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chrX:73564000-73565600	Weak transcription	Primary hematopoietic stem cells	blood
20	chrX:73564200-73564400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chrX:73564400-73564600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chrX:73564400-73564600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chrX:73564600-73565200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chrX:73564600-73565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chrX:73564600-73565600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chrX:73564600-73565600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chrX:73564600-73565800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chrX:73565200-73566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chrX:73565400-73566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chrX:73565600-73565800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chrX:73565600-73565800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chrX:73565600-73566200	Enhancers	K562	blood
33	chrX:73565600-73566400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chrX:73565600-73566600	Enhancers	Primary hematopoietic stem cells	blood
35	chrX:73565800-73566200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chrX:73566200-73566400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chrX:73566200-73569000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chrX:73566600-73571200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chrX:73566600-73571400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chrX:73568800-73569000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chrX:73569000-73569600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chrX:73569000-73569800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chrX:73569000-73569800	Enhancers	NHEK	skin
44	chrX:73569200-73569800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chrX:73569200-73570000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chrX:73569400-73569800	Enhancers	HMEC	breast
47	chrX:73569600-73569800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chrX:73569800-73571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chrX:73569800-73571800	Weak transcription	NHEK	skin
50	chrX:73571000-73571600	Enhancers	Primary T helper cells PMA-I stimulated	--

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