Variant report

Variant	nsv481879
Chromosome Location	chrX:32765802-32869026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:186)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:186 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrX:32766919-32767531	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
3	CEBPB	chrX:32772797-32772997	A549	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906
4	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
5	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
6	CEBPB	chrX:32772748-32773051	HepG2	liver:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
7	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
8	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
9	CEBPB	chrX:32772781-32773048	IMR90	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
10	CTCF	chrX:32771076-32771134	GM10248	blood:	n/a	n/a
11	CTCF	chrX:32792704-32792717	HepG2	liver:	n/a	n/a
12	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chrX:32836220-32836370	HMEC	breast:	n/a	n/a
14	CTCF	chrX:32851301-32851413	LNCaP	prostate:	n/a	n/a
15	CTCF	chrX:32792620-32792770	SAEC	small airway:	n/a	n/a
16	CTCF	chrX:32792620-32792770	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chrX:32786375-32786459	GM20000	blood:	n/a	n/a
18	CTCF	chrX:32836265-32836468	Medullo	brain:	n/a	n/a
19	CTCF	chrX:32770543-32770629	GM10266	blood:	n/a	n/a
20	CTCF	chrX:32797220-32797370	HMEC	breast:	n/a	n/a
21	CTCF	chrX:32775575-32775630	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chrX:32792685-32792697	NHEK	skin:	n/a	n/a
23	CTCF	chrX:32818692-32818774	GM20000	blood:	n/a	n/a
24	CTCF	chrX:32797236-32797397	Medullo	brain:	n/a	n/a
25	CTCF	chrX:32792620-32792770	BE2_C	brain:	n/a	n/a
26	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
27	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
28	CTCF	chrX:32792671-32792700	GM12878	blood:	n/a	n/a
29	CTCF	chrX:32778746-32778761	GM10248	blood:	n/a	n/a
30	CTCF	chrX:32792620-32792770	HEK293	kidney:	n/a	n/a
31	CTCF	chrX:32797197-32797411	LNCaP	prostate:	n/a	chrX:32797392-32797400
32	CTCF	chrX:32831104-32831171	GM10266	blood:	n/a	n/a
33	CTCF	chrX:32780790-32780863	GM20000	blood:	n/a	n/a
34	CTCF	chrX:32797253-32797345	IMR90	lung:	n/a	n/a
35	CTCF	chrX:32834010-32834073	LNCaP	prostate:	n/a	n/a
36	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
37	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chrX:32797226-32797328	LNCaP	prostate:	n/a	n/a
39	CTCF	chrX:32792650-32792769	Medullo	brain:	n/a	n/a
40	CTCF	chrX:32852154-32852263	GM20000	blood:	n/a	n/a
41	CTCF	chrX:32792641-32792723	LNCaP	prostate:	n/a	n/a
42	CTCF	chrX:32792600-32792750	BE2_C	brain:	n/a	n/a
43	CTCF	chrX:32794104-32794151	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chrX:32797240-32797312	Hela-S3	cervix:	n/a	n/a
45	CTCF	chrX:32768823-32769008	GM20000	blood:	n/a	n/a
46	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
47	CTCF	chrX:32822791-32822834	MCF-7	breast:	n/a	n/a
48	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chrX:32792660-32792810	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chrX:32769516-32769564	Pancreas_OC	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32830005-32830055	K562	blood:	n/a
2	chrX:32830005-32830055	AG10803	skin:	n/a
3	chrX:32830005-32830055	ECC-1	luminal epithelium:	n/a
4	chrX:32830005-32830055	HL-60	blood:	n/a
5	chrX:32830005-32830055	RPTEC	kidney:	n/a
6	chrX:32830005-32830055	HCM	heart:	n/a
7	chrX:32830005-32830055	Hela-S3	cervix:	n/a
8	chrX:32830005-32830055	AG09319	gingival:	n/a
9	chrX:32830005-32830055	PANC-1	pancreas:	n/a
10	chrX:32830005-32830055	SK-N-MC	brain:	n/a
11	chrX:32830005-32830055	Jurkat	blood:	n/a
12	chrX:32830005-32830055	ProgFib	skin:	n/a
13	chrX:32830005-32830055	SK-N-SH	brain:	n/a
14	chrX:32830005-32830055	NH-A	brain:	n/a
15	chrX:32830005-32830055	SKMC	muscle:	n/a
16	chrX:32830005-32830055	HIPEpiC	eye:	n/a
17	chrX:32830005-32830055	AG04450	lung:	fetal
18	chrX:32830005-32830055	A549	lung:	n/a
19	chrX:32830005-32830055	ovcar-3	ovarian:	n/a
20	chrX:32830005-32830055	SK-N-SH_RA	brain:	n/a
21	chrX:32830005-32830055	HCF	heart:	n/a
22	chrX:32830005-32830055	HEEpiC	esophagus:	n/a
23	chrX:32830005-32830055	AG04449	skin:	fetal
24	chrX:32830005-32830055	HEK293	kidney:	embryo
25	chrX:32830005-32830055	T-47D	breast:	n/a
26	chrX:32830005-32830055	GM12892	blood:	n/a
27	chrX:32830005-32830055	PFSK-1	brain:	n/a
28	chrX:32830005-32830055	U87	brain:	n/a
29	chrX:32830005-32830055	HepG2	liver:	n/a
30	chrX:32830005-32830055	LNCaP	prostate:	n/a
31	chrX:32830005-32830055	BJ	skin:	n/a
32	chrX:32830005-32830055	HNPCEpiC	eye:	n/a
33	chrX:32830005-32830055	PrEC	prostate:	n/a
34	chrX:32830005-32830055	MCF-7	breast:	n/a
35	chrX:32830005-32830055	HUVEC	blood vessel:	n/a
36	chrX:32830005-32830055	IMR90	lung:	fetal
37	chrX:32830005-32830055	NHBE	bronchial:	n/a
38	chrX:32830005-32830055	BE2_C	brain:	n/a
39	chrX:32830005-32830055	AG09309	skin:	n/a
40	chrX:32830005-32830055	HMEC	breast:	n/a
41	chrX:32830005-32830055	CMK	blood:	n/a
42	chrX:32830005-32830055	NHDF-neo	bronchial:	n/a
43	chrX:32830005-32830055	HCT-116	colon:	n/a
44	chrX:32830005-32830055	HPAEpiC	pulmonary alveolar:	n/a
45	chrX:32830005-32830055	HCPEpiC	choroid plexus:	n/a
46	chrX:32830005-32830055	HRPEpiC	eye:	n/a
47	chrX:32830005-32830055	Hepatocyte	liver:	n/a
48	chrX:32830005-32830055	H1-hESC	embryonic stem cell:	embryo
49	chrX:32830005-32830055	GM06990	blood:	n/a
50	chrX:32830005-32830055	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:32796881..32797760-chrX:33354782..33355607,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GK-5	chrX:32773057-32773106	ENSG00000236828.1
2	lnc-GK-5	chrX:32774275-32774517	ENSG00000236828.1

No data

Variant related genes	Relation type
DMD	TF binding region
DMD-AS3	TF binding region
ENSG00000238969	TF binding region
DMD	CpG island
DMD-AS3	CpG island
ENSG00000238969	CpG island

Extended variants
information (count: 1864 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1864 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139956728	chrX:32765859-32765860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113470379	chrX:32765891-32765892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376735063	chrX:32765936-32765937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199865466	chrX:32765941-32765942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12833483	chrX:32765961-32765962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369490936	chrX:32765993-32765994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182814921	chrX:32766109-32766110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186407235	chrX:32766219-32766220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57286791	chrX:32766224-32766225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192253365	chrX:32766254-32766255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529725959	chrX:32766325-32766326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148570961	chrX:32766378-32766379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182769108	chrX:32766392-32766393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375207546	chrX:32766395-32766396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187697784	chrX:32766396-32766397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192730715	chrX:32766418-32766419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369338543	chrX:32766425-32766426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60116805	chrX:32766433-32766434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201020087	chrX:32766477-32766478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187075317	chrX:32766533-32766534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144292790	chrX:32766541-32766542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192288667	chrX:32766761-32766762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113939587	chrX:32766770-32766771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184485072	chrX:32766802-32766803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112386435	chrX:32766817-32766818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548947804	chrX:32766828-32766829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16990614	chrX:32766987-32766988	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61144225	chrX:32767022-32767023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79272315	chrX:32767102-32767103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373303643	chrX:32767116-32767117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4829125	chrX:32767219-32767220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188067192	chrX:32767222-32767223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193206660	chrX:32767249-32767250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs5972656	chrX:32767256-32767257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144998401	chrX:32767263-32767264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149093020	chrX:32767316-32767317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16990618	chrX:32767425-32767426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184385351	chrX:32767480-32767481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189313915	chrX:32767514-32767515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181349265	chrX:32767597-32767598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184098106	chrX:32767632-32767633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188489969	chrX:32767639-32767640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370706826	chrX:32767655-32767656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114500663	chrX:32767790-32767791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567163287	chrX:32767797-32767798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12013455	chrX:32767803-32767804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6631640	chrX:32767818-32767819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566743919	chrX:32767882-32767883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6631641	chrX:32767884-32767885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191984713	chrX:32767940-32767941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Mental retardation	17406619	CNVD
Breast cancer	21364760	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
Alcoholism	21790672	CNVD
Chronic granulomatous disease	22383943	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32760600-32768800	Weak transcription	Left Ventricle	heart
2	chrX:32764800-32766800	Weak transcription	Fetal Heart	heart
3	chrX:32766800-32769000	Enhancers	Fetal Heart	heart
4	chrX:32767200-32768000	Enhancers	HUVEC	blood vessel
5	chrX:32769000-32769200	Enhancers	Left Ventricle	heart
6	chrX:32769000-32770600	Weak transcription	Fetal Heart	heart
7	chrX:32770600-32770800	Enhancers	Fetal Heart	heart
8	chrX:32788200-32788600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chrX:32792800-32793600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chrX:32793400-32793800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chrX:32793800-32795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chrX:32794800-32795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chrX:32795000-32797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chrX:32795600-32797000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chrX:32795600-32797000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chrX:32795600-32797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chrX:32795800-32797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chrX:32796000-32796400	Enhancers	H1 Cell Line	embryonic stem cell
19	chrX:32797400-32804400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chrX:32804200-32804400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chrX:32804400-32805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chrX:32804400-32805400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chrX:32804800-32805600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chrX:32805200-32805400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chrX:32807000-32807800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chrX:32807000-32808000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chrX:32807200-32807600	Enhancers	Brain Angular Gyrus	brain
28	chrX:32807200-32807600	Enhancers	Fetal Heart	heart
29	chrX:32807200-32807600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chrX:32807200-32809600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chrX:32807600-32808000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chrX:32807600-32808400	Weak transcription	Fetal Heart	heart
33	chrX:32808000-32809600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chrX:32808400-32808600	Enhancers	Fetal Heart	heart
35	chrX:32808600-32808800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chrX:32808600-32809600	Enhancers	Left Ventricle	heart
37	chrX:32808600-32832400	Weak transcription	Fetal Heart	heart
38	chrX:32808800-32809000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
39	chrX:32808800-32809400	Enhancers	Right Ventricle	heart
40	chrX:32809600-32809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chrX:32816000-32817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chrX:32817000-32817200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chrX:32817200-32817800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chrX:32817600-32842000	Weak transcription	HSMMtube	muscle
45	chrX:32817800-32818600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chrX:32818600-32823800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chrX:32819200-32823800	Weak transcription	Right Ventricle	heart
48	chrX:32820800-32825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chrX:32821600-32823600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chrX:32821800-32822800	Weak transcription	Stomach Smooth Muscle	stomach

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