Variant report

Variant	nsv949607
Chromosome Location	chrX:31766645-31889084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:304)
CpG islands
(count:0)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chrX:31825327-31825587	HepG2	liver:	n/a	n/a
2	ARID3A	chrX:31840662-31840756	K562	blood:	n/a	n/a
3	ATF1	chrX:31880836-31881481	K562	blood:	n/a	n/a
4	ATF1	chrX:31856622-31856958	K562	blood:	n/a	n/a
5	ATF1	chrX:31854667-31854914	K562	blood:	n/a	n/a
6	ATF1	chrX:31865924-31866215	K562	blood:	n/a	n/a
7	BACH1	chrX:31783135-31783137	K562	blood:	n/a	n/a
8	BCL3	chrX:31766561-31766945	GM12878	blood:	n/a	n/a
9	BCL3	chrX:31766645-31766852	GM12878	blood:	n/a	n/a
10	BHLHE40	chrX:31795023-31795206	K562	blood:	n/a	n/a
11	BHLHE40	chrX:31887576-31887844	K562	blood:	n/a	n/a
12	CBX3	chrX:31880787-31881579	K562	blood:	n/a	n/a
13	CBX3	chrX:31880911-31881222	K562	blood:	n/a	n/a
14	CCNT2	chrX:31865917-31866562	K562	blood:	n/a	n/a
15	CCNT2	chrX:31880965-31881256	K562	blood:	n/a	n/a
16	CEBPB	chrX:31854765-31854950	K562	blood:	n/a	chrX:31854795-31854812
17	CEBPB	chrX:31778692-31778796	HepG2	liver:	n/a	n/a
18	CEBPB	chrX:31826556-31826776	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chrX:31826634-31826676	K562	blood:	n/a	n/a
20	CEBPB	chrX:31880697-31881227	K562	blood:	n/a	n/a
21	CEBPB	chrX:31839455-31839711	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chrX:31880877-31881207	K562	blood:	n/a	n/a
23	CEBPB	chrX:31869466-31869539	K562	blood:	n/a	n/a
24	CEBPB	chrX:31773913-31774042	HepG2	liver:	n/a	chrX:31773955-31773966 chrX:31773957-31773968
25	CEBPB	chrX:31839449-31839744	K562	blood:	n/a	n/a
26	CEBPD	chrX:31865787-31866260	K562	blood:	n/a	n/a
27	CEBPD	chrX:31888350-31888723	K562	blood:	n/a	n/a
28	CEBPD	chrX:31865879-31866246	K562	blood:	n/a	n/a
29	CREB1	chrX:31881331-31881799	K562	blood:	n/a	n/a
30	CREB1	chrX:31880714-31881288	K562	blood:	n/a	n/a
31	CTCF	chrX:31788284-31788339	Medullo	brain:	n/a	n/a
32	CTCF	chrX:31874831-31874903	GM10248	blood:	n/a	n/a
33	CTCF	chrX:31863261-31863336	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:31842601-31842637	GM13976	blood:	n/a	n/a
35	CTCF	chrX:31778754-31778804	GM10266	blood:	n/a	n/a
36	CTCF	chrX:31781547-31781675	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chrX:31887709-31887726	GM13976	blood:	n/a	n/a
38	CTCF	chrX:31824806-31824875	GM20000	blood:	n/a	n/a
39	CTCF	chrX:31835719-31835774	GM10248	blood:	n/a	n/a
40	CTCF	chrX:31885277-31885356	LNCaP	prostate:	n/a	n/a
41	CTCF	chrX:31852823-31852921	Lung_OC	lung:	n/a	n/a
42	CTCF	chrX:31844911-31844933	Medullo	brain:	n/a	n/a
43	CTCF	chrX:31834014-31834048	GM10266	blood:	n/a	n/a
44	CTCF	chrX:31887988-31888161	K562	blood:	n/a	n/a
45	CTCF	chrX:31837830-31837874	Fibrobl	skin:	n/a	n/a
46	CTCF	chrX:31848465-31848544	LNCaP	prostate:	n/a	n/a
47	CTCF	chrX:31841916-31841948	A549	lung:	n/a	n/a
48	CTCF	chrX:31810831-31810849	A549	lung:	n/a	n/a
49	CTCF	chrX:31793852-31793869	GM10248	blood:	n/a	n/a
50	CTCF	chrX:31871029-31871120	GM10266	blood:	n/a	n/a

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
2	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
3	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
4	chrX:31880368..31882445-chrX:37544523..37546582,2	K562	blood:
5	chrX:31846736..31849689-chrX:31851521..31853181,2	K562	blood:
6	chrX:31853042..31856013-chrX:31864412..31867304,2	K562	blood:
7	chrX:31849555..31852205-chrX:31866739..31868743,2	K562	blood:
8	chrX:31867261..31868765-chrX:31875575..31877377,2	K562	blood:
9	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
10	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
11	chrX:31879109..31884748-chrX:31886200..31892011,14	K562	blood:
12	chrX:31870056..31872825-chrX:31875477..31878792,4	K562	blood:
13	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
14	chrX:31854870..31857269-chrX:31880560..31882604,2	K562	blood:
15	chrX:31867261..31868765-chrX:31875575..31877377,2	K562	blood:
16	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
17	chrX:31868973..31870576-chrX:31872637..31874406,2	K562	blood:
18	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
19	chrX:31849555..31852205-chrX:31866739..31868743,2	K562	blood:
20	chrX:31879318..31881738-chrX:37568667..37570898,2	K562	blood:
21	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
22	chrX:31846736..31849689-chrX:31851521..31853181,2	K562	blood:
23	chrX:31868973..31870576-chrX:31872637..31874406,2	K562	blood:
24	chrX:31860758..31862494-chrX:31865169..31867353,2	K562	blood:
25	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
26	chrX:31856957..31858886-chrX:31860711..31862555,2	K562	blood:
27	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
28	chrX:31868974..31872940-chrX:31881104..31882648,3	K562	blood:
29	chrX:31871691..31874644-chrX:31876183..31879556,5	K562	blood:
30	chrX:31870056..31872825-chrX:31875477..31878792,4	K562	blood:
31	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
32	chrX:31879109..31884748-chrX:31886200..31892011,14	K562	blood:
33	chrX:31860758..31862494-chrX:31865169..31867353,2	K562	blood:
34	chrX:31856957..31858886-chrX:31860711..31862555,2	K562	blood:
35	chrX:31871691..31874644-chrX:31876183..31879556,5	K562	blood:
36	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
37	chrX:31854748..31856516-chrX:31874032..31875743,2	K562	blood:
38	chrX:31868974..31872940-chrX:31881104..31882648,3	K562	blood:

No data

Variant related genes	Relation type
DMD	TF binding region
ENSG00000106638	chromatin interactions
ENSG00000047597	chromatin interactions
ENSG00000198947	chromatin interactions

Extended variants
information (count: 1431 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1431 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2047373	chrX:31766645-31766646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142945132	chrX:31766658-31766659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151062509	chrX:31766848-31766849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141312779	chrX:31766875-31766876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183224455	chrX:31766897-31766898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5927833	chrX:31766901-31766902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs1040347	chrX:31766959-31766960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371699222	chrX:31766992-31766993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140380662	chrX:31767007-31767008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150377607	chrX:31767102-31767103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138011731	chrX:31767134-31767135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199603439	chrX:31767151-31767152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186555311	chrX:31767186-31767187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190327788	chrX:31767240-31767241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34854553	chrX:31767254-31767255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202196355	chrX:31767256-31767257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35354717	chrX:31767258-31767259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143496860	chrX:31767264-31767265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182931845	chrX:31767268-31767269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60724705	chrX:31767272-31767273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187626246	chrX:31767306-31767307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192614808	chrX:31767323-31767324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182764757	chrX:31767326-31767327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5927834	chrX:31767365-31767366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369028884	chrX:31767442-31767443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373894121	chrX:31767466-31767467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs5927835	chrX:31767481-31767482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5927836	chrX:31767495-31767496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5927837	chrX:31767530-31767531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187738604	chrX:31767718-31767719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9779518	chrX:31767816-31767817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75809696	chrX:31768098-31768099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148213657	chrX:31768137-31768138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192905040	chrX:31768142-31768143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142770253	chrX:31768168-31768169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75616160	chrX:31768202-31768203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5927038	chrX:31768311-31768312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137928759	chrX:31768550-31768551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184587627	chrX:31768559-31768560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6628637	chrX:31768567-31768568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139435366	chrX:31768582-31768583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189907328	chrX:31768605-31768606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192050513	chrX:31768612-31768613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6628638	chrX:31768618-31768619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75274690	chrX:31768623-31768624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184647818	chrX:31768645-31768646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78652589	chrX:31768672-31768673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78238280	chrX:31768675-31768676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75473321	chrX:31768678-31768679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79670934	chrX:31768681-31768682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	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
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31765400-31767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chrX:31765800-31766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chrX:31766400-31770800	Weak transcription	Fetal Brain Male	brain
4	chrX:31766800-31770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chrX:31769400-31770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chrX:31770200-31770800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:31770200-31771000	Enhancers	Fetal Brain Female	brain
8	chrX:31770200-31771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:31770400-31771800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chrX:31770600-31771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chrX:31770600-31771000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chrX:31770600-31771200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chrX:31770600-31771400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chrX:31770600-31772000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:31770800-31771000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chrX:31770800-31771200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:31770800-31771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chrX:31770800-31771400	Enhancers	Fetal Brain Male	brain
19	chrX:31771400-31774200	Weak transcription	Fetal Brain Male	brain
20	chrX:31771800-31772200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chrX:31772200-31773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chrX:31774200-31774400	Enhancers	Fetal Brain Male	brain
23	chrX:31774400-31774800	Bivalent Enhancer	Fetal Brain Male	brain
24	chrX:31774400-31774800	Enhancers	Fetal Heart	heart
25	chrX:31777800-31778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chrX:31787400-31787800	Enhancers	HSMMtube	muscle
27	chrX:31789000-31797400	Weak transcription	Liver	Liver
28	chrX:31797400-31797600	Enhancers	Liver	Liver
29	chrX:31809400-31838800	Weak transcription	Aorta	Aorta
30	chrX:31810800-31811400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chrX:31815400-31817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:31816000-31816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chrX:31816400-31816800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chrX:31816600-31816800	Enhancers	HSMMtube	muscle
35	chrX:31816800-31825200	Weak transcription	HSMMtube	muscle
36	chrX:31823400-31826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chrX:31824000-31827000	Enhancers	Liver	Liver
38	chrX:31825800-31827000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chrX:31825800-31827200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chrX:31826200-31826400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chrX:31826200-31826800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chrX:31826200-31826800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chrX:31826200-31827000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chrX:31826200-31827000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chrX:31826400-31826800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chrX:31826600-31826800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chrX:31826800-31829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chrX:31826800-31838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chrX:31827000-31829200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chrX:31829200-31829400	Enhancers	HUES48 Cell Line	embryonic stem cell

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