Variant report

Variant	nsv432353
Chromosome Location	chrX:110098562-110188612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:183)
CpG islands
(count:612)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:183 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chrX:110188424-110188545	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chrX:110112624-110112848	A549	lung:	n/a	chrX:110112737-110112748
3	CEBPB	chrX:110132557-110132830	IMR90	lung:	n/a	chrX:110132657-110132665
4	CEBPB	chrX:110109137-110109366	HepG2	liver:	n/a	n/a
5	CEBPB	chrX:110174538-110174729	IMR90	lung:	n/a	n/a
6	CEBPB	chrX:110109082-110109326	K562	blood:	n/a	n/a
7	CEBPB	chrX:110112571-110112893	HepG2	liver:	n/a	chrX:110112737-110112748
8	CEBPB	chrX:110133423-110133454	IMR90	lung:	n/a	n/a
9	CEBPB	chrX:110112609-110112903	IMR90	lung:	n/a	chrX:110112737-110112748
10	CEBPB	chrX:110129227-110129433	IMR90	lung:	n/a	n/a
11	CEBPB	chrX:110121723-110121915	A549	lung:	n/a	n/a
12	CEBPB	chrX:110112722-110112879	K562	blood:	n/a	chrX:110112737-110112748
13	CEBPB	chrX:110122288-110122340	A549	lung:	n/a	n/a
14	CTBP2	chrX:110187451-110188651	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chrX:110122729-110122812	GM20000	blood:	n/a	n/a
16	CTCF	chrX:110177604-110177634	HepG2	liver:	n/a	n/a
17	CTCF	chrX:110172760-110172870	LNCaP	prostate:	n/a	n/a
18	CTCF	chrX:110126650-110126690	ProgFib	skin:	n/a	n/a
19	CTCF	chrX:110163005-110163019	GM10266	blood:	n/a	n/a
20	CTCF	chrX:110145377-110145532	GM10248	blood:	n/a	n/a
21	CTCF	chrX:110159894-110159992	GM10248	blood:	n/a	n/a
22	CTCF	chrX:110121720-110121870	AoAF	blood vessel:	n/a	n/a
23	CTCF	chrX:110107272-110107335	ProgFib	skin:	n/a	n/a
24	CTCF	chrX:110102678-110102723	HepG2	liver:	n/a	n/a
25	CTCF	chrX:110122240-110122390	HEK293	kidney:	n/a	n/a
26	CTCF	chrX:110111186-110111286	GM20000	blood:	n/a	n/a
27	CTCF	chrX:110162190-110162266	GM20000	blood:	n/a	n/a
28	CTCF	chrX:110121949-110121981	GM10266	blood:	n/a	n/a
29	CTCF	chrX:110126685-110126744	GM10248	blood:	n/a	n/a
30	CTCF	chrX:110156782-110156797	GM10266	blood:	n/a	n/a
31	CTCF	chrX:110158300-110158450	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chrX:110140234-110140315	GM10248	blood:	n/a	n/a
33	CTCF	chrX:110153771-110153880	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:110124191-110124233	A549	lung:	n/a	n/a
35	CTCF	chrX:110173322-110173346	GM10248	blood:	n/a	n/a
36	CTCF	chrX:110133303-110133446	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chrX:110174419-110174453	GM20000	blood:	n/a	n/a
38	CTCF	chrX:110187659-110187717	ProgFib	skin:	n/a	n/a
39	CTCF	chrX:110145377-110145507	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chrX:110099780-110099930	HEK293	kidney:	n/a	n/a
41	CTCF	chrX:110178672-110178728	Medullo	brain:	n/a	n/a
42	CTCF	chrX:110123451-110123566	LNCaP	prostate:	n/a	n/a
43	CTCF	chrX:110172350-110172459	LNCaP	prostate:	n/a	n/a
44	CTCF	chrX:110175168-110175247	LNCaP	prostate:	n/a	n/a
45	E2F4	chrX:110185237-110185398	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chrX:110138070-110138178	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chrX:110123507-110123643	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F6	chrX:110187344-110187843	H1-hESC	embryonic stem cell:	n/a	chrX:110187385-110187397
49	FOS	chrX:110176053-110176340	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chrX:110117394-110117595	MCF10A-Er-Src	breast:	n/a	chrX:110117465-110117475 chrX:110117465-110117475 chrX:110117466-110117474 chrX:110117465-110117475 chrX:110117465-110117475

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:110187421-110187471	AG04449	skin:	fetal
2	chrX:110187501-110187551	MCF10A-Er-Src	breast:	n/a
3	chrX:110187421-110187471	AG04449	skin:	fetal
4	chrX:110187501-110187551	MCF10A-Er-Src	breast:	n/a
5	chrX:110188397-110188447	HCPEpiC	choroid plexus:	n/a
6	chrX:110187600-110187650	NH-A	brain:	n/a
7	chrX:110188397-110188447	Jurkat	blood:	n/a
8	chrX:110187421-110187471	HEK293	kidney:	embryo
9	chrX:110187600-110187650	HRPEpiC	eye:	n/a
10	chrX:110187555-110187605	Caco-2	colon:	n/a
11	chrX:110187501-110187551	Caco-2	colon:	n/a
12	chrX:110186893-110186943	Hela-S3	cervix:	n/a
13	chrX:110186893-110186943	HAEpiC	amniotic membrane:	n/a
14	chrX:110187600-110187650	PrEC	prostate:	n/a
15	chrX:110188323-110188373	HepG2	liver:	n/a
16	chrX:110187421-110187471	MCF10A-Er-Src	breast:	n/a
17	chrX:110188323-110188373	HCPEpiC	choroid plexus:	n/a
18	chrX:110187600-110187650	HNPCEpiC	eye:	n/a
19	chrX:110187179-110187229	MCF10A-Er-Src	breast:	n/a
20	chrX:110187179-110187229	NHDF-neo	bronchial:	n/a
21	chrX:110187600-110187650	U87	brain:	n/a
22	chrX:110188323-110188373	SK-N-SH_RA	brain:	n/a
23	chrX:110188397-110188447	PrEC	prostate:	n/a
24	chrX:110186893-110186943	CMK	blood:	n/a
25	chrX:110187233-110187283	ECC-1	luminal epithelium:	n/a
26	chrX:110187179-110187229	HRE	kidney:	n/a
27	chrX:110186893-110186943	HRCEpiC	kidney:	n/a
28	chrX:110187179-110187229	SK-N-MC	brain:	n/a
29	chrX:110188397-110188447	H1-hESC	embryonic stem cell:	embryo
30	chrX:110187421-110187471	HCM	heart:	n/a
31	chrX:110187465-110187515	GM12891	blood:	n/a
32	chrX:110187179-110187229	T-47D	breast:	n/a
33	chrX:110187179-110187229	HCPEpiC	choroid plexus:	n/a
34	chrX:110187233-110187283	GM12878	blood:	n/a
35	chrX:110187501-110187551	NH-A	brain:	n/a
36	chrX:110186893-110186943	Jurkat	blood:	n/a
37	chrX:110188397-110188447	Caco-2	colon:	n/a
38	chrX:110186893-110186943	AG04449	skin:	fetal
39	chrX:110188397-110188447	HEK293	kidney:	embryo
40	chrX:110186893-110186943	HNPCEpiC	eye:	n/a
41	chrX:110188397-110188447	HL-60	blood:	n/a
42	chrX:110187555-110187605	SK-N-SH	brain:	n/a
43	chrX:110187233-110187283	HepG2	liver:	n/a
44	chrX:110187600-110187650	SK-N-SH	brain:	n/a
45	chrX:110187233-110187283	SK-N-SH_RA	brain:	n/a
46	chrX:110188323-110188373	HEEpiC	esophagus:	n/a
47	chrX:110187179-110187229	ECC-1	luminal epithelium:	n/a
48	chrX:110188397-110188447	PANC-1	pancreas:	n/a
49	chrX:110187233-110187283	HEK293	kidney:	embryo
50	chrX:110188323-110188373	U87	brain:	n/a

No data

Variant related genes	Relation type
PAK3	TF binding region
PAK3	CpG island

Extended variants
information (count: 153 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182387207	chrX:110109650-110109651	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs186382956	chrX:110109720-110109721	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs147724713	chrX:110109738-110109739	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530995963	chrX:110109739-110109740	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs190439089	chrX:110109846-110109847	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs34393996	chrX:110109864-110109865	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181421522	chrX:110109865-110109866	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs142500583	chrX:110109916-110109917	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs181901961	chrX:110156810-110156811	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73540046	chrX:110157205-110157206	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs140934174	chrX:110157381-110157382	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191043145	chrX:110157382-110157383	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs183555624	chrX:110157469-110157470	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs5942697	chrX:110157496-110157497	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151200031	chrX:110157546-110157547	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs552959812	chrX:110157637-110157638	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs573211081	chrX:110157655-110157656	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs575099493	chrX:110157877-110157878	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs369148436	chrX:110157891-110157892	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs5942698	chrX:110157970-110157971	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150348900	chrX:110158090-110158091	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs138108314	chrX:110158112-110158113	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs188435755	chrX:110158113-110158114	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs191350842	chrX:110158160-110158161	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs5943080	chrX:110158172-110158173	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs183108190	chrX:110158223-110158224	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs375184225	chrX:110158360-110158361	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs186636581	chrX:110158382-110158383	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191433968	chrX:110158417-110158418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183637724	chrX:110158426-110158427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34792745	chrX:110158441-110158442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138263979	chrX:110158575-110158576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5942699	chrX:110158582-110158583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369657860	chrX:110158632-110158633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61603076	chrX:110158647-110158648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144263792	chrX:110158669-110158670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5942700	chrX:110158676-110158677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187647161	chrX:110158875-110158876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193116978	chrX:110159014-110159015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371123458	chrX:110159101-110159102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73542012	chrX:110159137-110159138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185223522	chrX:110159141-110159142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190100351	chrX:110159215-110159216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34614552	chrX:110159244-110159245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542936003	chrX:110159285-110159286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6642831	chrX:110159286-110159287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139429911	chrX:110159313-110159314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560087877	chrX:110159335-110159336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144484687	chrX:110159360-110159361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145946131	chrX:110159433-110159434	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Multiple myeloma	17550852	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Pelizaeus-Merzbacher disease	18923514	CNVD
Pelizaeus-Merzbacher disease	22241247	CNVD
Cervical cancer	21062161	CNVD
Myxofibrosarcoma	16751306	CNVD
Pelizaeus-Merzbacher disease	22470819	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Astrocytoma	22246337	CNVD
Hirschsprung''s Disease	21712996	CNVD
X-linked lissencephaly	21572526	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:110109600-110110000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
2	chrX:110156800-110157000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chrX:110156800-110160200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chrX:110157200-110157800	Enhancers	Brain Substantia Nigra	brain
5	chrX:110157200-110158400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chrX:110157600-110158400	Enhancers	HMEC	breast
7	chrX:110157600-110159400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chrX:110157800-110159200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chrX:110158000-110158400	Enhancers	Adipose Nuclei	Adipose
10	chrX:110158000-110158400	Enhancers	Ovary	ovary
11	chrX:110158000-110158600	Enhancers	NHDF-Ad	bronchial
12	chrX:110158000-110158800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chrX:110158000-110159600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chrX:110158200-110158400	Bivalent Enhancer	NHEK	skin
15	chrX:110158400-110158800	Weak transcription	Adipose Nuclei	Adipose
16	chrX:110158400-110159000	Weak transcription	HMEC	breast
17	chrX:110158400-110159200	Enhancers	Fetal Muscle Leg	muscle
18	chrX:110158600-110159200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chrX:110158600-110159200	Weak transcription	NHDF-Ad	bronchial
20	chrX:110158800-110159400	Enhancers	Adipose Nuclei	Adipose
21	chrX:110159000-110159600	Enhancers	HMEC	breast
22	chrX:110159200-110159400	Enhancers	NHDF-Ad	bronchial
23	chrX:110159400-110159800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chrX:110164400-110165000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chrX:110167600-110168200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chrX:110182000-110182400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
27	chrX:110182000-110182600	Enhancers	Gastric	stomach
28	chrX:110182000-110183200	Enhancers	Pancreas	Pancrea
29	chrX:110182200-110182600	Enhancers	Stomach Mucosa	stomach
30	chrX:110182200-110182800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chrX:110182400-110183000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chrX:110182600-110187600	Weak transcription	Gastric	stomach
33	chrX:110182600-110188600	Weak transcription	Stomach Mucosa	stomach
34	chrX:110183200-110187200	Weak transcription	Pancreas	Pancrea
35	chrX:110184800-110186000	Enhancers	HMEC	breast
36	chrX:110185400-110185800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chrX:110185800-110186600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chrX:110186000-110187400	Bivalent Enhancer	HMEC	breast
39	chrX:110186600-110187200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chrX:110186800-110187000	Enhancers	Brain Germinal Matrix	brain
41	chrX:110186800-110187200	Enhancers	Brain Angular Gyrus	brain
42	chrX:110187000-110187400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chrX:110187000-110188400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chrX:110187000-110188600	Bivalent/Poised TSS	Fetal Kidney	kidney
45	chrX:110187000-110188800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chrX:110187000-110189800	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chrX:110187000-110190200	Active TSS	Brain Germinal Matrix	brain
48	chrX:110187200-110187400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
49	chrX:110187200-110187400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chrX:110187200-110187400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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