Variant report

Variant	esv3447095
Chromosome Location	chrX:31441731-31519629
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:31441684-31441786	K562	blood:	n/a	n/a
2	ARID3A	chrX:31442158-31442355	HepG2	liver:	n/a	n/a
3	BACH1	chrX:31517260-31517602	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chrX:31461975-31462162	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chrX:31441491-31442399	Hela-S3	cervix:	n/a	chrX:31442354-31442361
6	CEBPB	chrX:31498840-31499200	HepG2	liver:	n/a	n/a
7	CEBPB	chrX:31498832-31499204	K562	blood:	n/a	n/a
8	CEBPB	chrX:31449714-31449901	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:31448066-31448352	HepG2	liver:	n/a	chrX:31448196-31448207
10	CEBPB	chrX:31448037-31448386	IMR90	lung:	n/a	chrX:31448196-31448207
11	CEBPB	chrX:31441617-31442633	Hela-S3	cervix:	n/a	chrX:31442323-31442340 chrX:31442324-31442337
12	CEBPB	chrX:31498848-31499181	A549	lung:	n/a	n/a
13	CEBPB	chrX:31441720-31441981	IMR90	lung:	n/a	n/a
14	CEBPB	chrX:31463707-31463999	IMR90	lung:	n/a	n/a
15	CEBPB	chrX:31448025-31448379	K562	blood:	n/a	chrX:31448196-31448207
16	CEBPB	chrX:31444213-31444413	IMR90	lung:	n/a	n/a
17	CEBPB	chrX:31448077-31448353	A549	lung:	n/a	chrX:31448196-31448207
18	CEBPB	chrX:31493581-31493777	K562	blood:	n/a	n/a
19	CEBPB	chrX:31498859-31499182	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chrX:31448047-31448361	Hela-S3	cervix:	n/a	chrX:31448196-31448207
21	CEBPB	chrX:31477547-31477852	IMR90	lung:	n/a	n/a
22	CEBPB	chrX:31498870-31499174	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chrX:31461661-31461885	HepG2	liver:	n/a	n/a
24	CEBPB	chrX:31498839-31499206	IMR90	lung:	n/a	n/a
25	CHD1	chrX:31519110-31519142	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chrX:31453690-31454125	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chrX:31441800-31441950	NHEK	skin:	n/a	n/a
28	CTCF	chrX:31442415-31442418	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chrX:31477929-31478006	GM20000	blood:	n/a	n/a
30	CTCF	chrX:31442180-31442330	HCM	heart:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
31	CTCF	chrX:31442140-31442290	AG04450	lung:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
32	CTCF	chrX:31442219-31442243	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chrX:31504543-31504615	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chrX:31442436-31442509	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chrX:31489523-31489545	ProgFib	skin:	n/a	n/a
36	CTCF	chrX:31442088-31442385	HUVEC	blood vessel:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
37	CTCF	chrX:31441946-31442396	IMR90	lung:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
38	CTCF	chrX:31441999-31442301	H1-hESC	embryonic stem cell:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
39	CTCF	chrX:31442137-31442257	Fibrobl	skin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
40	CTCF	chrX:31442060-31442210	MCF-7	breast:	n/a	n/a
41	CTCF	chrX:31442107-31442288	NHEK	skin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
42	CTCF	chrX:31442140-31442290	HBMEC	blood vessel:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
43	CTCF	chrX:31442100-31442250	HPF	lung:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
44	CTCF	chrX:31492207-31492272	GM20000	blood:	n/a	n/a
45	CTCF	chrX:31442838-31442888	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chrX:31442100-31442250	AG09309	skin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
47	CTCF	chrX:31442120-31442270	AG10803	skin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
48	CTCF	chrX:31442160-31442310	NHEK	skin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
49	CTCF	chrX:31442200-31442350	HFF-Myc	foreskin:	n/a	chrX:31442201-31442214 chrX:31442201-31442214
50	CTCF	chrX:31442140-31442290	GM06990	blood:	n/a	chrX:31442201-31442214 chrX:31442201-31442214

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:31479350..31481011-chrX:31523171..31525113,2	K562	blood:
2	chrX:31436407..31439307-chrX:31440950..31442473,2	K562	blood:

Variant related genes	Relation type
DMD	TF binding region

Extended variants
information (count: 962 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180816622	chrX:31441763-31441764	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs143314632	chrX:31441824-31441825	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs374233006	chrX:31441825-31441826	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs185920571	chrX:31441909-31441910	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs553949474	chrX:31441914-31441915	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs368340816	chrX:31441916-31441917	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566091704	chrX:31442170-31442171	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs12006623	chrX:31442307-31442308	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370881059	chrX:31442311-31442312	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140067267	chrX:31442336-31442337	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145588145	chrX:31442546-31442547	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539939149	chrX:31442707-31442708	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs150634324	chrX:31442752-31442753	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372460944	chrX:31442778-31442779	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs10521968	chrX:31442965-31442966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190794550	chrX:31442966-31442967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149761598	chrX:31443003-31443004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182567854	chrX:31443044-31443045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145709878	chrX:31443072-31443073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185759081	chrX:31443079-31443080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377117631	chrX:31443321-31443322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201013595	chrX:31443439-31443440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376156126	chrX:31443647-31443648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558141614	chrX:31443658-31443659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140557569	chrX:31443670-31443671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7892444	chrX:31443796-31443797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202226701	chrX:31443808-31443809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200426582	chrX:31443825-31443826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58343053	chrX:31443828-31443829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12011154	chrX:31443829-31443830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61365841	chrX:31443835-31443836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200325032	chrX:31443877-31443878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146527214	chrX:31443891-31443892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200765962	chrX:31443938-31443939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375103228	chrX:31443955-31443956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190554536	chrX:31443977-31443978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368012866	chrX:31443999-31444000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371398137	chrX:31444109-31444110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183202181	chrX:31444166-31444167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576518505	chrX:31444235-31444236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375963319	chrX:31444259-31444260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73212347	chrX:31444281-31444282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11316158	chrX:31444291-31444292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564425514	chrX:31444351-31444352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140985974	chrX:31444449-31444450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193214191	chrX:31444488-31444489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183908682	chrX:31444529-31444530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187768633	chrX:31444533-31444534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576058884	chrX:31444605-31444606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191349332	chrX:31444612-31444613	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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	21293372	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31439400-31441800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chrX:31441400-31441800	Enhancers	Brain Anterior Caudate	brain
3	chrX:31441400-31442200	Active TSS	Ovary	ovary
4	chrX:31441600-31441800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chrX:31441600-31441800	Active TSS	Muscle Satellite Cultured Cells	--
6	chrX:31441600-31442200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chrX:31441600-31442200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chrX:31441600-31442200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chrX:31441600-31442600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chrX:31441600-31442800	Flanking Active TSS	Hela-S3	cervix
11	chrX:31441800-31442200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chrX:31441800-31442200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chrX:31441800-31442200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chrX:31441800-31442200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chrX:31441800-31442200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chrX:31441800-31442200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chrX:31441800-31442200	Active TSS	Brain Angular Gyrus	brain
18	chrX:31441800-31442200	Enhancers	Brain Cingulate Gyrus	brain
19	chrX:31441800-31442200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chrX:31441800-31442400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chrX:31441800-31442400	Active TSS	Brain Anterior Caudate	brain
22	chrX:31441800-31442400	Enhancers	Fetal Heart	heart
23	chrX:31441800-31442600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chrX:31441800-31442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chrX:31441800-31442600	Bivalent/Poised TSS	Fetal Lung	lung
26	chrX:31441800-31442600	Enhancers	HSMMtube	muscle
27	chrX:31441800-31442600	Enhancers	NHDF-Ad	bronchial
28	chrX:31442000-31442400	Enhancers	Adipose Nuclei	Adipose
29	chrX:31442200-31442600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chrX:31442200-31442600	Enhancers	Muscle Satellite Cultured Cells	--
31	chrX:31442200-31442600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chrX:31442200-31442600	Enhancers	Ovary	ovary
33	chrX:31442400-31442600	Enhancers	Brain Anterior Caudate	brain
34	chrX:31442400-31443800	Weak transcription	Adipose Nuclei	Adipose
35	chrX:31442400-31443800	Weak transcription	Fetal Heart	heart
36	chrX:31442600-31444000	Weak transcription	Ovary	ovary
37	chrX:31442600-31444600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chrX:31442800-31443400	Enhancers	Hela-S3	cervix
39	chrX:31443800-31446000	Enhancers	Fetal Heart	heart
40	chrX:31444000-31444200	Enhancers	Adipose Nuclei	Adipose
41	chrX:31444000-31444800	Enhancers	Ovary	ovary
42	chrX:31444600-31444800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chrX:31446200-31446800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chrX:31452200-31452400	Enhancers	Fetal Kidney	kidney
45	chrX:31452200-31453400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chrX:31452400-31452800	Enhancers	Fetal Brain Male	brain
47	chrX:31452400-31453800	Weak transcription	Fetal Kidney	kidney
48	chrX:31452600-31454400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chrX:31452600-31454800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:31452800-31453200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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