Variant report

Variant	nsv491930
Chromosome Location	chrX:31449215-31543991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:313)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:313 , 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	BACH1	chrX:31517260-31517602	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chrX:31461975-31462162	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chrX:31498839-31499206	IMR90	lung:	n/a	n/a
4	CEBPB	chrX:31529159-31529352	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chrX:31461661-31461885	HepG2	liver:	n/a	n/a
6	CEBPB	chrX:31477547-31477852	IMR90	lung:	n/a	n/a
7	CEBPB	chrX:31524549-31524822	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chrX:31449714-31449901	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:31493581-31493777	K562	blood:	n/a	n/a
10	CEBPB	chrX:31498870-31499174	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chrX:31498832-31499204	K562	blood:	n/a	n/a
12	CEBPB	chrX:31498840-31499200	HepG2	liver:	n/a	n/a
13	CEBPB	chrX:31498848-31499181	A549	lung:	n/a	n/a
14	CEBPB	chrX:31498859-31499182	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chrX:31463707-31463999	IMR90	lung:	n/a	n/a
16	CHD1	chrX:31519110-31519142	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chrX:31453690-31454125	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chrX:31485579-31485640	LNCaP	prostate:	n/a	n/a
19	CTCF	chrX:31515024-31515083	GM20000	blood:	n/a	n/a
20	CTCF	chrX:31489498-31489514	ProgFib	skin:	n/a	n/a
21	CTCF	chrX:31523167-31523229	LNCaP	prostate:	n/a	n/a
22	CTCF	chrX:31477929-31478006	GM20000	blood:	n/a	n/a
23	CTCF	chrX:31489560-31489710	HEK293	kidney:	n/a	n/a
24	CTCF	chrX:31459184-31459260	GM20000	blood:	n/a	n/a
25	CTCF	chrX:31466822-31466923	LNCaP	prostate:	n/a	n/a
26	CTCF	chrX:31523373-31523454	GM10248	blood:	n/a	n/a
27	CTCF	chrX:31451818-31451908	GM10266	blood:	n/a	n/a
28	CTCF	chrX:31489540-31489690	HepG2	liver:	n/a	n/a
29	CTCF	chrX:31540242-31540297	ProgFib	skin:	n/a	n/a
30	CTCF	chrX:31525123-31525215	GM10248	blood:	n/a	n/a
31	CTCF	chrX:31459493-31459542	GM10248	blood:	n/a	n/a
32	CTCF	chrX:31463889-31463908	LNCaP	prostate:	n/a	n/a
33	CTCF	chrX:31516558-31516608	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chrX:31470582-31470661	LNCaP	prostate:	n/a	n/a
35	CTCF	chrX:31492207-31492272	GM20000	blood:	n/a	n/a
36	CTCF	chrX:31526464-31526537	LNCaP	prostate:	n/a	n/a
37	CTCF	chrX:31465215-31465234	GM10248	blood:	n/a	n/a
38	CTCF	chrX:31489521-31489656	A549	lung:	n/a	n/a
39	CTCF	chrX:31472901-31472959	GM20000	blood:	n/a	n/a
40	CTCF	chrX:31489518-31489607	MCF-7	breast:	n/a	n/a
41	CTCF	chrX:31497830-31497876	GM10248	blood:	n/a	n/a
42	CTCF	chrX:31483790-31483845	GM20000	blood:	n/a	n/a
43	CTCF	chrX:31508080-31508158	GM20000	blood:	n/a	n/a
44	CTCF	chrX:31489409-31489494	ProgFib	skin:	n/a	n/a
45	CTCF	chrX:31504543-31504615	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chrX:31505574-31505632	GM10248	blood:	n/a	n/a
47	CTCF	chrX:31489523-31489545	ProgFib	skin:	n/a	n/a
48	E2F4	chrX:31477588-31477778	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chrX:31495443-31495519	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chrX:31514322-31515011	MCF10A-Er-Src	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:31526531-31526581	HepG2	liver:	n/a
2	chrX:31526531-31526581	AG09309	skin:	n/a
3	chrX:31526531-31526581	HPAEpiC	pulmonary alveolar:	n/a
4	chrX:31526745-31526795	HRCEpiC	kidney:	n/a
5	chrX:31526745-31526795	GM12878	blood:	n/a
6	chrX:31526745-31526795	AG09309	skin:	n/a
7	chrX:31526531-31526581	Jurkat	blood:	n/a
8	chrX:31526531-31526581	HCT-116	colon:	n/a
9	chrX:31526531-31526581	MCF-7	breast:	n/a
10	chrX:31526531-31526581	Hepatocyte	liver:	n/a
11	chrX:31526745-31526795	HUVEC	blood vessel:	n/a
12	chrX:31526531-31526581	HIPEpiC	eye:	n/a
13	chrX:31526745-31526795	SK-N-MC	brain:	n/a
14	chrX:31526531-31526581	HRPEpiC	eye:	n/a
15	chrX:31526745-31526795	RPTEC	kidney:	n/a
16	chrX:31526531-31526581	A549	lung:	n/a
17	chrX:31526745-31526795	BE2_C	brain:	n/a
18	chrX:31526531-31526581	NT2-D1	testis:	n/a
19	chrX:31526531-31526581	PrEC	prostate:	n/a
20	chrX:31526531-31526581	HEK293	kidney:	embryo
21	chrX:31526745-31526795	K562	blood:	n/a
22	chrX:31526531-31526581	HNPCEpiC	eye:	n/a
23	chrX:31526531-31526581	GM06990	blood:	n/a
24	chrX:31526745-31526795	Hepatocyte	liver:	n/a
25	chrX:31526745-31526795	T-47D	breast:	n/a
26	chrX:31526745-31526795	AG04450	lung:	fetal
27	chrX:31526531-31526581	SKMC	muscle:	n/a
28	chrX:31526531-31526581	BE2_C	brain:	n/a
29	chrX:31526531-31526581	AG09319	gingival:	n/a
30	chrX:31526531-31526581	HUVEC	blood vessel:	n/a
31	chrX:31526531-31526581	GM12892	blood:	n/a
32	chrX:31526745-31526795	U87	brain:	n/a
33	chrX:31526531-31526581	ECC-1	luminal epithelium:	n/a
34	chrX:31526531-31526581	AG10803	skin:	n/a
35	chrX:31526745-31526795	GM12892	blood:	n/a
36	chrX:31526745-31526795	BJ	skin:	n/a
37	chrX:31526745-31526795	HIPEpiC	eye:	n/a
38	chrX:31526531-31526581	T-47D	breast:	n/a
39	chrX:31526531-31526581	HMEC	breast:	n/a
40	chrX:31526531-31526581	HCPEpiC	choroid plexus:	n/a
41	chrX:31526745-31526795	NB4	blood:	n/a
42	chrX:31526531-31526581	SK-N-SH_RA	brain:	n/a
43	chrX:31526531-31526581	H1-hESC	embryonic stem cell:	embryo
44	chrX:31526531-31526581	NHBE	bronchial:	n/a
45	chrX:31526745-31526795	HNPCEpiC	eye:	n/a
46	chrX:31526531-31526581	AG04449	skin:	fetal
47	chrX:31526745-31526795	IMR90	lung:	fetal
48	chrX:31526745-31526795	PANC-1	pancreas:	n/a
49	chrX:31526745-31526795	HepG2	liver:	n/a
50	chrX:31526745-31526795	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:31479350..31481011-chrX:31523171..31525113,2	K562	blood:
2	chrX:31479350..31481011-chrX:31523171..31525113,2	K562	blood:

No data

Variant related genes	Relation type
DMD	TF binding region
DMD	CpG island

Extended variants
information (count: 1273 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1273 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17330006	chrX:31452322-31452323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188159555	chrX:31452355-31452356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7063535	chrX:31452427-31452428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370652407	chrX:31452461-31452462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200809747	chrX:31452536-31452537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181026791	chrX:31452539-31452540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200909549	chrX:31452557-31452558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202168388	chrX:31452559-31452560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10572573	chrX:31452580-31452581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55857267	chrX:31452586-31452587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10572572	chrX:31452590-31452591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59597512	chrX:31452678-31452679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs207478222	chrX:31452791-31452792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17338535	chrX:31452809-31452810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184812592	chrX:31452829-31452830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147771206	chrX:31452832-31452833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6631314	chrX:31452999-31453000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189770782	chrX:31453154-31453155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549805133	chrX:31453161-31453162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568088378	chrX:31453278-31453279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67267140	chrX:31453367-31453368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17338542	chrX:31453403-31453404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140973545	chrX:31453456-31453457	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141504966	chrX:31453516-31453517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145812519	chrX:31453546-31453547	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181783750	chrX:31453561-31453562	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185700375	chrX:31453823-31453824	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190504188	chrX:31453836-31453837	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138276865	chrX:31453893-31453894	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146106118	chrX:31453998-31453999	Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs17338549	chrX:31454007-31454008	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs17340756	chrX:31454071-31454072	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs144586604	chrX:31454091-31454092	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181789014	chrX:31454127-31454128	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs73212356	chrX:31454165-31454166	Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201674929	chrX:31454283-31454284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368668904	chrX:31454285-31454286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145196194	chrX:31454400-31454401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186318634	chrX:31454445-31454446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147193916	chrX:31454583-31454584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199950204	chrX:31454587-31454588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140558181	chrX:31454614-31454615	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs190969415	chrX:31454740-31454741	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs7059589	chrX:31454913-31454914	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182678713	chrX:31454924-31454925	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs188228967	chrX:31455124-31455125	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs58963087	chrX:31455252-31455253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377383336	chrX:31455295-31455296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10521969	chrX:31455356-31455357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183290469	chrX:31455570-31455571	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31452200-31452400	Enhancers	Fetal Kidney	kidney
2	chrX:31452200-31453400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chrX:31452400-31452800	Enhancers	Fetal Brain Male	brain
4	chrX:31452400-31453800	Weak transcription	Fetal Kidney	kidney
5	chrX:31452600-31454400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chrX:31452600-31454800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chrX:31452800-31453200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chrX:31452800-31453800	Weak transcription	Fetal Brain Male	brain
9	chrX:31452800-31454000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chrX:31453000-31454800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chrX:31453000-31455000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:31453200-31454400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chrX:31453200-31454800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chrX:31453200-31455000	Enhancers	HepG2	liver
15	chrX:31453400-31453600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chrX:31453400-31453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:31453600-31454000	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chrX:31453600-31454800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chrX:31453800-31454200	Active TSS	Brain Hippocampus Middle	brain
20	chrX:31453800-31454200	Enhancers	Fetal Brain Male	brain
21	chrX:31453800-31454200	Enhancers	Fetal Kidney	kidney
22	chrX:31453800-31454200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chrX:31453800-31454800	Enhancers	Fetal Intestine Small	intestine
24	chrX:31454000-31454200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chrX:31454000-31454200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chrX:31454000-31454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chrX:31454200-31454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chrX:31454200-31455000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chrX:31454400-31454800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chrX:31454800-31455000	Enhancers	Liver	Liver
31	chrX:31454800-31455600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chrX:31454800-31456600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chrX:31455000-31461800	Weak transcription	Liver	Liver
34	chrX:31455400-31455600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chrX:31456600-31456800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chrX:31460400-31461800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chrX:31461400-31467600	Weak transcription	Aorta	Aorta
38	chrX:31461800-31462200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chrX:31461800-31462200	Strong transcription	Liver	Liver
40	chrX:31461800-31463000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chrX:31462000-31465200	Enhancers	Dnd41	blood
42	chrX:31462200-31463800	Weak transcription	Psoas Muscle	Psoas
43	chrX:31462200-31466200	Weak transcription	Liver	Liver
44	chrX:31463800-31464000	Enhancers	Psoas Muscle	Psoas
45	chrX:31465000-31465200	Enhancers	Ovary	ovary
46	chrX:31466200-31466400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chrX:31466200-31466400	Enhancers	Liver	Liver
48	chrX:31466200-31466600	Enhancers	HepG2	liver
49	chrX:31466400-31467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:31467200-31467800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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