Variant report

Variant	nsv948944
Chromosome Location	chrX:29398264-29902917
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:29888604-29889199	GM12878	blood:	n/a	n/a
3	ATF2	chrX:29888720-29889090	GM12878	blood:	n/a	n/a
4	ATF2	chrX:29573213-29574360	GM12878	blood:	n/a	n/a
5	ATF3	chrX:29488088-29488437	HCT-116	colon:	n/a	n/a
6	ATF3	chrX:29680699-29681442	A549	lung:	n/a	n/a
7	ATF3	chrX:29680082-29680533	A549	lung:	n/a	n/a
8	ATF3	chrX:29488101-29488592	HCT-116	colon:	n/a	n/a
9	ATF3	chrX:29680735-29681444	A549	lung:	n/a	n/a
10	BACH1	chrX:29511134-29511188	K562	blood:	n/a	n/a
11	BATF	chrX:29573454-29574266	GM12878	blood:	n/a	chrX:29573801-29573811
12	BATF	chrX:29681395-29681628	GM12878	blood:	n/a	n/a
13	BATF	chrX:29573528-29574299	GM12878	blood:	n/a	chrX:29573801-29573811
14	BATF	chrX:29880333-29880582	GM12878	blood:	n/a	n/a
15	BATF	chrX:29471429-29471733	GM12878	blood:	n/a	n/a
16	BATF	chrX:29680824-29681092	GM12878	blood:	n/a	n/a
17	BATF	chrX:29680260-29680482	GM12878	blood:	n/a	n/a
18	BATF	chrX:29646043-29646254	GM12878	blood:	n/a	chrX:29646190-29646200
19	BATF	chrX:29680238-29680482	GM12878	blood:	n/a	n/a
20	BCL11A	chrX:29573579-29573980	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
21	BCL11A	chrX:29888756-29889109	GM12878	blood:	n/a	chrX:29888914-29888923
22	BCL11A	chrX:29681369-29681593	GM12878	blood:	n/a	n/a
23	BCL11A	chrX:29573430-29574319	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
24	BCL3	chrX:29573591-29574020	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
25	BCL3	chrX:29553480-29553939	A549	lung:	n/a	n/a
26	BCL3	chrX:29680080-29681622	A549	lung:	n/a	n/a
27	BCL3	chrX:29573529-29574018	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
28	BCL3	chrX:29680712-29681604	A549	lung:	n/a	n/a
29	BCLAF1	chrX:29573491-29574181	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
30	BCLAF1	chrX:29549343-29549822	GM12878	blood:	n/a	chrX:29549613-29549622
31	BCLAF1	chrX:29573360-29574154	GM12878	blood:	n/a	chrX:29573800-29573809 chrX:29573799-29573808 chrX:29573753-29573762
32	BCLAF1	chrX:29496715-29497192	GM12878	blood:	n/a	n/a
33	BCLAF1	chrX:29549455-29549715	GM12878	blood:	n/a	chrX:29549613-29549622
34	BHLHE40	chrX:29496062-29497035	GM12878	blood:	n/a	n/a
35	BHLHE40	chrX:29573417-29574342	GM12878	blood:	n/a	n/a
36	BHLHE40	chrX:29507052-29507412	GM12878	blood:	n/a	n/a
37	BHLHE40	chrX:29550328-29550401	GM12878	blood:	n/a	n/a
38	BHLHE40	chrX:29880374-29880612	GM12878	blood:	n/a	n/a
39	BRCA1	chrX:29895804-29895907	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chrX:29564466-29564468	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chrX:29608540-29608552	GM12878	blood:	n/a	n/a
42	BRCA1	chrX:29450500-29450526	GM12878	blood:	n/a	n/a
43	BRCA1	chrX:29680808-29681729	Hela-S3	cervix:	n/a	chrX:29681023-29681030
44	CBX3	chrX:29445249-29445751	HCT-116	colon:	n/a	n/a
45	CEBPB	chrX:29680823-29681612	A549	lung:	n/a	n/a
46	CEBPB	chrX:29561015-29561331	A549	lung:	n/a	chrX:29561184-29561195
47	CEBPB	chrX:29505845-29506184	A549	lung:	n/a	chrX:29506170-29506181 chrX:29506012-29506023 chrX:29506014-29506023 chrX:29506013-29506024
48	CEBPB	chrX:29482380-29482607	IMR90	lung:	n/a	n/a
49	CEBPB	chrX:29471723-29472010	HepG2	liver:	n/a	chrX:29471852-29471863
50	CEBPB	chrX:29805844-29806145	IMR90	lung:	n/a	chrX:29805951-29805962 chrX:29805978-29805989

No.	Distal block	Cell Line	Cell type
1	chrX:29880273..29882962-chrX:29889198..29890836,2	K562	blood:
2	chr1:37940088..37941001-chrX:29680329..29680874,2	Hela-S3	cervix:
3	chrX:29569469..29571389-chrX:29622961..29624853,2	K562	blood:
4	chrX:29880273..29882962-chrX:29889198..29890836,2	K562	blood:
5	chrX:29836886..29838838-chrX:29842038..29844841,2	K562	blood:
6	chrX:29569469..29571389-chrX:29622961..29624853,2	K562	blood:
7	chrX:29381837..29383683-chrX:29401526..29403141,2	K562	blood:
8	chrX:29836886..29838838-chrX:29842038..29844841,2	K562	blood:
9	chrX:29709719..29712234-chrX:29713547..29716493,2	MCF-7	breast:
10	chrX:29709719..29712234-chrX:29713547..29716493,2	MCF-7	breast:

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

Variant related genes	Relation type
MIR4666B	TF binding region
ENSG00000163874	chromatin interactions

Extended variants
information (count: 3947 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3947 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187240531	chrX:29408209-29408210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35299154	chrX:29408276-29408277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1028361	chrX:29408416-29408417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139145213	chrX:29410471-29410472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372833369	chrX:29414549-29414550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201189729	chrX:29414569-29414570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370129379	chrX:29414572-29414573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200345215	chrX:29414573-29414574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373441053	chrX:29414591-29414592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377333517	chrX:29415259-29415260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188929977	chrX:29415264-29415265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374568261	chrX:29415305-29415306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6628424	chrX:29415345-29415346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201280937	chrX:29415368-29415369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568935626	chrX:29415603-29415604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs5971905	chrX:29415656-29415657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs150594232	chrX:29415687-29415688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2206354	chrX:29415870-29415871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192470844	chrX:29415877-29415878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73631658	chrX:29416015-29416016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187403299	chrX:29416022-29416023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191942099	chrX:29416043-29416044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184861566	chrX:29416110-29416111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535842799	chrX:29416136-29416137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189754697	chrX:29416214-29416215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80134119	chrX:29416257-29416258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181041157	chrX:29416293-29416294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184467777	chrX:29416334-29416335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67395117	chrX:29416436-29416437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374798990	chrX:29416630-29416631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188105256	chrX:29416631-29416632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5927346	chrX:29416661-29416662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181951828	chrX:29416688-29416689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2294533	chrX:29416908-29416909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186334097	chrX:29416937-29416938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189167213	chrX:29417064-29417065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181536853	chrX:29417156-29417157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186500754	chrX:29417168-29417169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375069613	chrX:29417240-29417241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375905905	chrX:29417258-29417259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368301683	chrX:29417268-29417269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370874667	chrX:29417287-29417288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191378384	chrX:29417363-29417364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182749376	chrX:29417442-29417443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186087470	chrX:29417490-29417491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372010294	chrX:29417494-29417495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4829347	chrX:29417510-29417511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111286320	chrX:29417704-29417705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369211822	chrX:29417712-29417713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183332425	chrX:29417713-29417714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Astrocytoma	22246337	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Infertility	21528002	CNVD
Ovarian cancer	19835627	CNVD
Testicular germ cell tumor	18059402	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Mental retardation	20848651	CNVD

Chromatin state (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29408200-29408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chrX:29410400-29410600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chrX:29414400-29414600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chrX:29415200-29416200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:29415600-29416000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:29416200-29420400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chrX:29419800-29420800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chrX:29420400-29421000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chrX:29420400-29421000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chrX:29437600-29438400	Enhancers	Stomach Mucosa	stomach
11	chrX:29437800-29438600	Enhancers	HUVEC	blood vessel
12	chrX:29438000-29438200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chrX:29438000-29438400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chrX:29438200-29438600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chrX:29438200-29438600	Enhancers	Fetal Heart	heart
16	chrX:29438400-29438800	Enhancers	NH-A	brain
17	chrX:29438400-29439400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chrX:29438600-29439800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chrX:29438600-29445400	Weak transcription	Fetal Heart	heart
20	chrX:29439200-29439800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chrX:29439400-29439600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chrX:29439400-29441000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chrX:29439600-29440200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chrX:29439800-29440000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chrX:29439800-29440400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chrX:29439800-29440400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chrX:29440000-29440200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chrX:29440000-29440200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chrX:29440000-29440200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chrX:29440000-29441600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chrX:29440200-29441600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chrX:29440200-29441600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chrX:29440400-29440800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chrX:29440400-29441200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chrX:29440800-29441600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chrX:29441000-29441200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chrX:29441200-29441400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chrX:29441200-29442200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chrX:29441400-29441600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
40	chrX:29441400-29441600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chrX:29442600-29442800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chrX:29445400-29446600	Enhancers	Fetal Heart	heart
43	chrX:29446600-29447000	Weak transcription	Fetal Heart	heart
44	chrX:29447000-29447600	Enhancers	Fetal Heart	heart
45	chrX:29450200-29451200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chrX:29450200-29451400	Enhancers	HMEC	breast
47	chrX:29450200-29451400	Enhancers	NHEK	skin
48	chrX:29450400-29450800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chrX:29452800-29453200	Active TSS	Fetal Kidney	kidney
50	chrX:29453200-29453400	ZNF genes & repeats	Fetal Kidney	kidney

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