Variant report

Variant	nsv527547
Chromosome Location	chrX:29581553-29619671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chrX:29608540-29608552	GM12878	blood:	n/a	n/a
2	CEBPB	chrX:29603424-29603592	A549	lung:	n/a	n/a
3	CTCF	chrX:29593341-29593348	GM10248	blood:	n/a	n/a
4	CTCF	chrX:29612919-29612976	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chrX:29616522-29616550	LNCaP	prostate:	n/a	n/a
6	CTCF	chrX:29606408-29606472	GM20000	blood:	n/a	n/a
7	CTCF	chrX:29591156-29591193	GM10248	blood:	n/a	n/a
8	CTCF	chrX:29593260-29593334	GM10248	blood:	n/a	n/a
9	CTCF	chrX:29616555-29616564	LNCaP	prostate:	n/a	n/a
10	CTCF	chrX:29614749-29614804	GM20000	blood:	n/a	n/a
11	CTCF	chrX:29615928-29616049	GM20000	blood:	n/a	n/a
12	CTCF	chrX:29591148-29591233	GM20000	blood:	n/a	n/a
13	FOS	chrX:29599332-29599583	HUVEC	blood vessel:	n/a	n/a
14	GATA2	chrX:29599420-29599753	HUVEC	blood vessel:	n/a	n/a
15	GATA3	chrX:29588620-29588984	SK-N-SH	brain:	n/a	n/a
16	GATA3	chrX:29588603-29588894	T-47D	breast:	n/a	n/a
17	JUN	chrX:29587954-29588190	K562	blood:	n/a	n/a
18	MYC	chrX:29593485-29593546	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chrX:29609182-29609247	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chrX:29608640-29608673	GM12878	blood:	n/a	n/a
21	POLR2A	chrX:29593584-29593624	A549	lung:	n/a	n/a
22	POLR2A	chrX:29593563-29593570	A549	lung:	n/a	n/a
23	POLR2A	chrX:29597249-29597338	ProgFib	skin:	n/a	n/a
24	POLR2A	chrX:29611538-29611619	ProgFib	skin:	n/a	n/a
25	POLR2A	chrX:29612109-29612223	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chrX:29589125-29589214	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chrX:29616282-29616315	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chrX:29589074-29589155	A549	lung:	n/a	n/a
29	POLR2A	chrX:29597292-29597450	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chrX:29602698-29602874	K562	blood:	n/a	n/a
31	POLR2A	chrX:29591206-29591399	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chrX:29608698-29608821	ProgFib	skin:	n/a	n/a
33	POLR2A	chrX:29619014-29619081	A549	lung:	n/a	n/a
34	POLR2A	chrX:29594718-29594857	ProgFib	skin:	n/a	n/a
35	POLR2A	chrX:29598722-29598913	ProgFib	skin:	n/a	n/a
36	POLR2A	chrX:29603662-29603664	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chrX:29611542-29611631	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chrX:29609841-29609857	A549	lung:	n/a	n/a
39	POLR2A	chrX:29608587-29608637	A549	lung:	n/a	n/a
40	POLR2A	chrX:29611307-29611360	A549	lung:	n/a	n/a
41	POLR2A	chrX:29583583-29583672	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chrX:29609613-29609835	A549	lung:	n/a	n/a
43	POLR2A	chrX:29611300-29611302	A549	lung:	n/a	n/a
44	POLR2A	chrX:29610957-29610990	A549	lung:	n/a	n/a
45	POLR2A	chrX:29593629-29593702	A549	lung:	n/a	n/a
46	POLR2A	chrX:29611379-29611421	A549	lung:	n/a	n/a
47	POLR2A	chrX:29611264-29611266	A549	lung:	n/a	n/a
48	RUNX3	chrX:29605292-29605625	GM12878	blood:	n/a	n/a
49	STAT3	chrX:29611771-29611958	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chrX:29583033-29583150	MCF10A-Er-Src	breast:	n/a	n/a

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4666b	chrX:29592403-29592425	MIMAT0022485

No data

Variant related genes	Relation type
MIR4666B	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183302175	chrX:29587957-29587958	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144854086	chrX:29587973-29587974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188518456	chrX:29587992-29587993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs5927784	chrX:29588004-29588005	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147103367	chrX:29588605-29588606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191526491	chrX:29588611-29588612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183679496	chrX:29588656-29588657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369611543	chrX:29588824-29588825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs188057097	chrX:29588832-29588833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs6526887	chrX:29588888-29588889	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181982065	chrX:29588894-29588895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs5927785	chrX:29589105-29589106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201313993	chrX:29589165-29589166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs386824508	chrX:29589174-29589175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374953270	chrX:29589186-29589187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs386824509	chrX:29589195-29589196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs369419809	chrX:29590994-29590995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191481920	chrX:29591052-29591053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112294139	chrX:29591060-29591061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543478038	chrX:29591118-29591119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142669249	chrX:29591250-29591251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113444594	chrX:29591277-29591278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140631495	chrX:29592425-29592426	Inactive region	miRNA	n/a	Overlapped CNVs	n/a
24	rs187021600	chrX:29599672-29599673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191511116	chrX:29599708-29599709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76874664	chrX:29599769-29599770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79989472	chrX:29599770-29599771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539196355	chrX:29599843-29599844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113859784	chrX:29599872-29599873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112548776	chrX:29599890-29599891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187508036	chrX:29599898-29599899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193281114	chrX:29599993-29599994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs5927865	chrX:29605016-29605017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs57841605	chrX:29605017-29605018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34857378	chrX:29605104-29605105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149430091	chrX:29605193-29605194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144698705	chrX:29605323-29605324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148075493	chrX:29605378-29605379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143914324	chrX:29605407-29605408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191243947	chrX:29605464-29605465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377435065	chrX:29605485-29605486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182336224	chrX:29605496-29605497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186664357	chrX:29605507-29605508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191127720	chrX:29605525-29605526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183306778	chrX:29605634-29605635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147264109	chrX:29605678-29605679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140801693	chrX:29605784-29605785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187641833	chrX:29605866-29605867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142822181	chrX:29606057-29606058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192891229	chrX:29606092-29606093	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Pancreatic cancer	17952125	CNVD
Mental retardation	20613765	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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29599600-29600000	Enhancers	Fetal Heart	heart
2	chrX:29605000-29606400	Enhancers	GM12878-XiMat	blood
3	chrX:29608600-29609000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:29609000-29609400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chrX:29609400-29610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chrX:29616800-29617800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chrX:29616800-29618600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chrX:29617000-29618600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chrX:29617000-29619000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chrX:29617000-29619000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chrX:29617600-29618400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chrX:29618400-29618800	Enhancers	H1 Cell Line	embryonic stem cell
13	chrX:29618600-29619200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links