Variant report

Variant	nsv523313
Chromosome Location	chrX:29536125-29648021
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	ATF2	chrX:29573388-29574404	GM12878	blood:	n/a	n/a
2	ATF2	chrX:29573213-29574360	GM12878	blood:	n/a	n/a
3	BATF	chrX:29573528-29574299	GM12878	blood:	n/a	chrX:29573801-29573811
4	BATF	chrX:29646043-29646254	GM12878	blood:	n/a	chrX:29646190-29646200
5	BATF	chrX:29573454-29574266	GM12878	blood:	n/a	chrX:29573801-29573811
6	BCL11A	chrX:29573430-29574319	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
7	BCL11A	chrX:29573579-29573980	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
8	BCL3	chrX:29573591-29574020	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
9	BCL3	chrX:29553480-29553939	A549	lung:	n/a	n/a
10	BCL3	chrX:29573529-29574018	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
11	BCLAF1	chrX:29573491-29574181	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
12	BCLAF1	chrX:29549343-29549822	GM12878	blood:	n/a	chrX:29549613-29549622
13	BCLAF1	chrX:29549455-29549715	GM12878	blood:	n/a	chrX:29549613-29549622
14	BCLAF1	chrX:29573360-29574154	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
15	BHLHE40	chrX:29550328-29550401	GM12878	blood:	n/a	n/a
16	BHLHE40	chrX:29573417-29574342	GM12878	blood:	n/a	n/a
17	BRCA1	chrX:29564466-29564468	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chrX:29608540-29608552	GM12878	blood:	n/a	n/a
19	CEBPB	chrX:29573614-29574036	GM12878	blood:	n/a	n/a
20	CEBPB	chrX:29579446-29579722	HepG2	liver:	n/a	chrX:29579518-29579529
21	CEBPB	chrX:29561053-29561343	A549	lung:	n/a	chrX:29561184-29561195
22	CEBPB	chrX:29628641-29629013	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chrX:29548736-29549013	IMR90	lung:	n/a	n/a
24	CEBPB	chrX:29561015-29561331	A549	lung:	n/a	chrX:29561184-29561195
25	CEBPB	chrX:29563995-29564304	A549	lung:	n/a	n/a
26	CEBPB	chrX:29570574-29570884	IMR90	lung:	n/a	chrX:29570854-29570866 chrX:29570851-29570868 chrX:29570705-29570716
27	CEBPB	chrX:29628683-29628953	A549	lung:	n/a	n/a
28	CEBPB	chrX:29628661-29628972	IMR90	lung:	n/a	n/a
29	CEBPB	chrX:29545996-29546249	IMR90	lung:	n/a	n/a
30	CEBPB	chrX:29570572-29570878	HepG2	liver:	n/a	chrX:29570854-29570866 chrX:29570851-29570868 chrX:29570705-29570716
31	CEBPB	chrX:29573344-29574225	GM12878	blood:	n/a	chrX:29574117-29574128 chrX:29574117-29574128
32	CEBPB	chrX:29561075-29561356	A549	lung:	n/a	chrX:29561184-29561195
33	CEBPB	chrX:29603424-29603592	A549	lung:	n/a	n/a
34	CEBPB	chrX:29561045-29561361	IMR90	lung:	n/a	chrX:29561184-29561195
35	CEBPB	chrX:29545986-29546419	A549	lung:	n/a	n/a
36	CEBPB	chrX:29564093-29564293	HepG2	liver:	n/a	n/a
37	CEBPB	chrX:29561027-29561356	HepG2	liver:	n/a	chrX:29561184-29561195
38	CEBPB	chrX:29628689-29629002	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chrX:29628651-29628921	A549	lung:	n/a	n/a
40	CEBPB	chrX:29570652-29570832	A549	lung:	n/a	chrX:29570705-29570716
41	CEBPB	chrX:29628735-29629015	A549	lung:	n/a	n/a
42	CEBPB	chrX:29561123-29561218	HepG2	liver:	n/a	chrX:29561184-29561195
43	CEBPB	chrX:29579500-29579810	IMR90	lung:	n/a	chrX:29579518-29579529
44	CEBPB	chrX:29579484-29579847	Hela-S3	cervix:	n/a	chrX:29579518-29579529
45	CHD2	chrX:29573499-29574235	GM12878	blood:	n/a	n/a
46	CREB1	chrX:29573444-29574154	GM12878	blood:	n/a	n/a
47	CREB1	chrX:29573448-29574368	GM12878	blood:	n/a	n/a
48	CTCF	chrX:29635980-29636130	AG09319	gingival:	n/a	n/a
49	CTCF	chrX:29635992-29636099	MCF-7	breast:	n/a	n/a
50	CTCF	chrX:29537720-29537870	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:29569469..29571389-chrX:29622961..29624853,2	K562	blood:
2	chrX:29569469..29571389-chrX:29622961..29624853,2	K562	blood:

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

Variant related genes	Relation type
MIR4666B	TF binding region

Extended variants
information (count: 744 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192349653	chrX:29537016-29537017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150623218	chrX:29537373-29537374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374786589	chrX:29537386-29537387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139673068	chrX:29537410-29537411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149803689	chrX:29537908-29537909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147890493	chrX:29537996-29537997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190398021	chrX:29546066-29546067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541103588	chrX:29546074-29546075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182226097	chrX:29546165-29546166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370762618	chrX:29546333-29546334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs76217898	chrX:29546350-29546351	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184591645	chrX:29546403-29546404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188956552	chrX:29546412-29546413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181372362	chrX:29546615-29546616	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147464417	chrX:29546824-29546825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114202600	chrX:29546840-29546841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185648411	chrX:29546887-29546888	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112293242	chrX:29546992-29546993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191191898	chrX:29547100-29547101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578159601	chrX:29547133-29547134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180846622	chrX:29547260-29547261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76948502	chrX:29547305-29547306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185909221	chrX:29547568-29547569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377165412	chrX:29547572-29547573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112200187	chrX:29547676-29547677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199709540	chrX:29547717-29547718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200409138	chrX:29547718-29547719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375349899	chrX:29547725-29547726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141823157	chrX:29547758-29547759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60369358	chrX:29547760-29547761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371751772	chrX:29547765-29547766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72625534	chrX:29547766-29547767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200953250	chrX:29547769-29547770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192003346	chrX:29547837-29547838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545485038	chrX:29548036-29548037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5971554	chrX:29548066-29548067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147264699	chrX:29548148-29548149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5972342	chrX:29548429-29548430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112877362	chrX:29548455-29548456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112605439	chrX:29548464-29548465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12841004	chrX:29548630-29548631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144139146	chrX:29548655-29548656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183129113	chrX:29548722-29548723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185958495	chrX:29548729-29548730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547098552	chrX:29548751-29548752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146434808	chrX:29548832-29548833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140754299	chrX:29548891-29548892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35777054	chrX:29548983-29548984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539154560	chrX:29548999-29549000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190430368	chrX:29549046-29549047	Weak transcription 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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29537000-29537800	Enhancers	Adipose Nuclei	Adipose
2	chrX:29537200-29537600	Enhancers	Brain Hippocampus Middle	brain
3	chrX:29537200-29538000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chrX:29546000-29546200	Enhancers	GM12878-XiMat	blood
5	chrX:29546200-29546400	Enhancers	A549	lung
6	chrX:29546200-29546400	Flanking Active TSS	GM12878-XiMat	blood
7	chrX:29546200-29547200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chrX:29546400-29546600	Enhancers	GM12878-XiMat	blood
9	chrX:29546600-29547000	Flanking Active TSS	GM12878-XiMat	blood
10	chrX:29546600-29551200	Weak transcription	A549	lung
11	chrX:29547000-29547200	Enhancers	GM12878-XiMat	blood
12	chrX:29547200-29548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chrX:29547200-29548400	Weak transcription	GM12878-XiMat	blood
14	chrX:29548400-29548800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chrX:29548400-29550200	Enhancers	GM12878-XiMat	blood
16	chrX:29548600-29549000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chrX:29548800-29553600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chrX:29551000-29551400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chrX:29551200-29551800	Enhancers	A549	lung
20	chrX:29551800-29553200	Weak transcription	A549	lung
21	chrX:29553200-29553400	Enhancers	A549	lung
22	chrX:29553200-29554200	Enhancers	NHEK	skin
23	chrX:29553400-29554000	Enhancers	HUVEC	blood vessel
24	chrX:29553400-29554200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chrX:29553400-29554200	Flanking Active TSS	A549	lung
26	chrX:29553600-29554000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chrX:29553800-29554200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chrX:29554200-29554600	Enhancers	A549	lung
29	chrX:29559400-29559800	ZNF genes & repeats	GM12878-XiMat	blood
30	chrX:29559800-29561400	Enhancers	GM12878-XiMat	blood
31	chrX:29560200-29562400	Enhancers	Liver	Liver
32	chrX:29561400-29565800	Weak transcription	GM12878-XiMat	blood
33	chrX:29562400-29563400	Weak transcription	Liver	Liver
34	chrX:29563400-29565200	Enhancers	Liver	Liver
35	chrX:29565200-29565600	Weak transcription	Liver	Liver
36	chrX:29565600-29566600	Enhancers	Liver	Liver
37	chrX:29565800-29566600	Flanking Active TSS	GM12878-XiMat	blood
38	chrX:29566000-29566800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chrX:29566200-29566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chrX:29566200-29566800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chrX:29566200-29567400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chrX:29566400-29567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chrX:29566600-29567600	Enhancers	GM12878-XiMat	blood
44	chrX:29566800-29567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chrX:29566800-29567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chrX:29567000-29567400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chrX:29567200-29567800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chrX:29567200-29567800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chrX:29567400-29571200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chrX:29567800-29571200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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