Variant report

Variant	esv2758567
Chromosome Location	chrX:31363616-31519148
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:31368398-31368911	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:31374459-31375489	HepG2	liver:	n/a	chrX:31374966-31374982
3	ARID3A	chrX:31442158-31442355	HepG2	liver:	n/a	n/a
4	ARID3A	chrX:31441684-31441786	K562	blood:	n/a	n/a
5	ATF1	chrX:31390110-31390428	K562	blood:	n/a	n/a
6	BACH1	chrX:31461975-31462162	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chrX:31517260-31517602	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chrX:31370954-31371737	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chrX:31439052-31439392	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chrX:31441491-31442399	Hela-S3	cervix:	n/a	chrX:31442354-31442361
11	BRCA1	chrX:31374799-31375406	Hela-S3	cervix:	n/a	n/a
12	CCNT2	chrX:31390189-31390389	K562	blood:	n/a	chrX:31390263-31390283
13	CEBPB	chrX:31374560-31375581	Hela-S3	cervix:	n/a	chrX:31375388-31375399
14	CEBPB	chrX:31448037-31448386	IMR90	lung:	n/a	chrX:31448196-31448207
15	CEBPB	chrX:31438969-31439347	IMR90	lung:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
16	CEBPB	chrX:31438923-31439350	HepG2	liver:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
17	CEBPB	chrX:31421795-31421980	IMR90	lung:	n/a	n/a
18	CEBPB	chrX:31444213-31444413	IMR90	lung:	n/a	n/a
19	CEBPB	chrX:31439071-31439266	H1-hESC	embryonic stem cell:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
20	CEBPB	chrX:31439007-31439344	A549	lung:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
21	CEBPB	chrX:31498832-31499204	K562	blood:	n/a	n/a
22	CEBPB	chrX:31368405-31368701	HepG2	liver:	n/a	n/a
23	CEBPB	chrX:31439132-31439239	K562	blood:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
24	CEBPB	chrX:31371200-31371539	IMR90	lung:	n/a	n/a
25	CEBPB	chrX:31374629-31375001	HepG2	liver:	n/a	n/a
26	CEBPB	chrX:31386116-31386126	IMR90	lung:	n/a	n/a
27	CEBPB	chrX:31493581-31493777	K562	blood:	n/a	n/a
28	CEBPB	chrX:31412089-31412259	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chrX:31438755-31439889	Hela-S3	cervix:	n/a	chrX:31439148-31439161 chrX:31439148-31439161 chrX:31439149-31439160 chrX:31439189-31439202 chrX:31439190-31439201
30	CEBPB	chrX:31463707-31463999	IMR90	lung:	n/a	n/a
31	CEBPB	chrX:31498840-31499200	HepG2	liver:	n/a	n/a
32	CEBPB	chrX:31448025-31448379	K562	blood:	n/a	chrX:31448196-31448207
33	CEBPB	chrX:31461661-31461885	HepG2	liver:	n/a	n/a
34	CEBPB	chrX:31374718-31374926	HepG2	liver:	n/a	n/a
35	CEBPB	chrX:31477547-31477852	IMR90	lung:	n/a	n/a
36	CEBPB	chrX:31415313-31415492	IMR90	lung:	n/a	n/a
37	CEBPB	chrX:31448077-31448353	A549	lung:	n/a	chrX:31448196-31448207
38	CEBPB	chrX:31386041-31386163	K562	blood:	n/a	n/a
39	CEBPB	chrX:31498859-31499182	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chrX:31498848-31499181	A549	lung:	n/a	n/a
41	CEBPB	chrX:31449714-31449901	IMR90	lung:	n/a	n/a
42	CEBPB	chrX:31498839-31499206	IMR90	lung:	n/a	n/a
43	CEBPB	chrX:31390129-31390491	K562	blood:	n/a	n/a
44	CEBPB	chrX:31370908-31371779	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chrX:31448047-31448361	Hela-S3	cervix:	n/a	chrX:31448196-31448207
46	CEBPB	chrX:31498870-31499174	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chrX:31410202-31410453	IMR90	lung:	n/a	n/a
48	CEBPB	chrX:31390072-31390407	K562	blood:	n/a	n/a
49	CEBPB	chrX:31441720-31441981	IMR90	lung:	n/a	n/a
50	CEBPB	chrX:31448066-31448352	HepG2	liver:	n/a	chrX:31448196-31448207

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

Variant related genes	Relation type
DMD	TF binding region
RNU6-894P	TF binding region

Extended variants
information (count: 1987 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144382243	chrX:31363657-31363658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180960780	chrX:31363724-31363725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185337571	chrX:31363728-31363729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188683980	chrX:31363789-31363790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145574169	chrX:31363878-31363879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142564761	chrX:31364036-31364037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2141816	chrX:31364179-31364180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181464558	chrX:31364356-31364357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs72333175	chrX:31364418-31364419	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370589798	chrX:31364426-31364427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4143965	chrX:31364476-31364477	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140790428	chrX:31364491-31364492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144622934	chrX:31364500-31364501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146629106	chrX:31364565-31364566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6628594	chrX:31364718-31364719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186048711	chrX:31364752-31364753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550683097	chrX:31364792-31364793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191934796	chrX:31364797-31364798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6628595	chrX:31364817-31364818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6631292	chrX:31364973-31364974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374615311	chrX:31365042-31365043	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs55814909	chrX:31365097-31365098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535553340	chrX:31365137-31365138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5927731	chrX:31365154-31365155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55862733	chrX:31365155-31365156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145089494	chrX:31365220-31365221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201507588	chrX:31365279-31365280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6631294	chrX:31365286-31365287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183893088	chrX:31365478-31365479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187187928	chrX:31365481-31365482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201162964	chrX:31365493-31365494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190915616	chrX:31365497-31365498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182341857	chrX:31365501-31365502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187095526	chrX:31365511-31365512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11796041	chrX:31365514-31365515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138895995	chrX:31365584-31365585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191862560	chrX:31365636-31365637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375103948	chrX:31365734-31365735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11797959	chrX:31365753-31365754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183019212	chrX:31365793-31365794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11796098	chrX:31365929-31365930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200308057	chrX:31365968-31365969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569012029	chrX:31366106-31366107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143706379	chrX:31366119-31366120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188509825	chrX:31366144-31366145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535864368	chrX:31366167-31366168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192912574	chrX:31366191-31366192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185579840	chrX:31366241-31366242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188842031	chrX:31366412-31366413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6628596	chrX:31366484-31366485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31357800-31367800	Weak transcription	Fetal Heart	heart
2	chrX:31367800-31369200	Enhancers	Liver	Liver
3	chrX:31367800-31369200	Enhancers	Gastric	stomach
4	chrX:31367800-31369400	Enhancers	Fetal Heart	heart
5	chrX:31367800-31369600	Enhancers	HepG2	liver
6	chrX:31368000-31368200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chrX:31368200-31369200	Enhancers	Hela-S3	cervix
8	chrX:31368400-31369200	Enhancers	HMEC	breast
9	chrX:31368800-31369200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chrX:31369200-31370200	Weak transcription	Hela-S3	cervix
11	chrX:31369200-31371000	Weak transcription	HMEC	breast
12	chrX:31369200-31373600	Weak transcription	Liver	Liver
13	chrX:31369200-31374200	Weak transcription	Gastric	stomach
14	chrX:31369400-31371600	Weak transcription	Fetal Heart	heart
15	chrX:31369600-31373000	Weak transcription	HepG2	liver
16	chrX:31370200-31374600	Enhancers	Hela-S3	cervix
17	chrX:31370400-31371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chrX:31370600-31372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chrX:31370800-31371200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chrX:31371000-31372000	Enhancers	NHEK	skin
21	chrX:31371000-31372200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chrX:31371000-31372400	Enhancers	HMEC	breast
23	chrX:31371200-31371600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chrX:31371200-31371600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chrX:31371200-31372000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chrX:31371400-31371600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chrX:31371400-31371600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chrX:31371400-31372200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrX:31371600-31371800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chrX:31371600-31371800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chrX:31371600-31372000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chrX:31371600-31372000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chrX:31371600-31372000	Enhancers	Fetal Heart	heart
34	chrX:31371600-31373600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chrX:31371600-31374200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chrX:31371800-31372800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chrX:31371800-31373400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chrX:31371800-31373600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chrX:31371800-31375600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chrX:31372000-31373600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:31372000-31374000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chrX:31372000-31375200	Weak transcription	Fetal Heart	heart
43	chrX:31372800-31373800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chrX:31373000-31375800	Enhancers	HepG2	liver
45	chrX:31373400-31376400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chrX:31373600-31373800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chrX:31373600-31374400	Enhancers	H9 Cell Line	embryonic stem cell
48	chrX:31373600-31374800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chrX:31373600-31377000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:31373600-31377000	Enhancers	Liver	Liver

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