Variant report

Variant	nsv869737
Chromosome Location	chrX:110346973-110376790
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:110358073-110358405	GM12878	blood:	n/a	n/a
2	BCL3	chrX:110349210-110349641	GM12878	blood:	n/a	n/a
3	BCL3	chrX:110349264-110349860	GM12878	blood:	n/a	n/a
4	BHLHE40	chrX:110367720-110367739	GM12878	blood:	n/a	n/a
5	CEBPB	chrX:110353583-110353957	HepG2	liver:	n/a	chrX:110353752-110353763 chrX:110353821-110353833
6	CEBPB	chrX:110353589-110353921	IMR90	lung:	n/a	chrX:110353752-110353763 chrX:110353821-110353833
7	CEBPB	chrX:110370377-110370566	A549	lung:	n/a	chrX:110370435-110370446
8	CEBPB	chrX:110370366-110370590	HepG2	liver:	n/a	chrX:110370435-110370446
9	CEBPB	chrX:110353392-110353943	Hela-S3	cervix:	n/a	chrX:110353752-110353763 chrX:110353821-110353833
10	CEBPB	chrX:110353616-110353943	A549	lung:	n/a	chrX:110353752-110353763 chrX:110353821-110353833
11	CEBPB	chrX:110370366-110370603	IMR90	lung:	n/a	chrX:110370435-110370446
12	CEBPB	chrX:110353617-110353884	K562	blood:	n/a	chrX:110353752-110353763 chrX:110353821-110353833
13	CREB1	chrX:110367645-110368091	GM12878	blood:	n/a	n/a
14	CTCF	chrX:110364229-110364287	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chrX:110357137-110357200	GM10248	blood:	n/a	n/a
16	CTCF	chrX:110349457-110349494	GM19239	blood:	n/a	n/a
17	CTCF	chrX:110349649-110349669	GM19239	blood:	n/a	n/a
18	CTCF	chrX:110372896-110372925	LNCaP	prostate:	n/a	n/a
19	E2F4	chrX:110360547-110360606	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chrX:110370059-110370316	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chrX:110351400-110351532	MCF10A-Er-Src	breast:	n/a	n/a
22	EBF1	chrX:110367817-110368148	GM12878	blood:	n/a	chrX:110367972-110367983 chrX:110367973-110367983
23	EBF1	chrX:110367800-110368072	GM12878	blood:	n/a	chrX:110367972-110367983 chrX:110367973-110367983
24	EP300	chrX:110358213-110358343	GM12878	blood:	n/a	n/a
25	EP300	chrX:110358172-110358384	GM12878	blood:	n/a	chrX:110358208-110358217
26	EP300	chrX:110353671-110353904	Hela-S3	cervix:	n/a	n/a
27	EP300	chrX:110347030-110347173	GM12878	blood:	n/a	n/a
28	EP300	chrX:110367750-110367956	GM12878	blood:	n/a	n/a
29	EP300	chrX:110366367-110366444	GM12878	blood:	n/a	n/a
30	FOS	chrX:110353706-110353899	MCF10A-Er-Src	breast:	n/a	chrX:110353793-110353802
31	FOS	chrX:110373207-110373452	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chrX:110376700-110376982	MCF10A-Er-Src	breast:	n/a	chrX:110376823-110376835 chrX:110376825-110376833 chrX:110376824-110376834 chrX:110376824-110376834
33	FOS	chrX:110376634-110377013	MCF10A-Er-Src	breast:	n/a	chrX:110376823-110376835 chrX:110376825-110376833 chrX:110376824-110376834 chrX:110376824-110376834
34	FOS	chrX:110353750-110353924	MCF10A-Er-Src	breast:	n/a	chrX:110353793-110353802
35	FOS	chrX:110373135-110373517	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chrX:110353727-110353825	MCF10A-Er-Src	breast:	n/a	chrX:110353793-110353802
37	FOS	chrX:110373194-110373517	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chrX:110376671-110376955	MCF10A-Er-Src	breast:	n/a	chrX:110376823-110376835 chrX:110376825-110376833 chrX:110376824-110376834 chrX:110376824-110376834
39	FOS	chrX:110376728-110376941	MCF10A-Er-Src	breast:	n/a	chrX:110376823-110376835 chrX:110376825-110376833 chrX:110376824-110376834 chrX:110376824-110376834
40	FOXM1	chrX:110357988-110358459	GM12878	blood:	n/a	n/a
41	GATA3	chrX:110359876-110360243	MCF-7	breast:	n/a	n/a
42	GATA3	chrX:110376365-110376463	SH-SY5Y	brain:	n/a	n/a
43	JUN	chrX:110370307-110370571	HepG2	liver:	n/a	chrX:110370449-110370462
44	JUND	chrX:110353323-110353508	HepG2	liver:	n/a	n/a
45	JUND	chrX:110370337-110370601	HepG2	liver:	n/a	n/a
46	JUND	chrX:110362739-110363015	HepG2	liver:	n/a	chrX:110362837-110362846
47	MAFK	chrX:110376261-110376461	HepG2	liver:	n/a	chrX:110376364-110376375 chrX:110376365-110376376 chrX:110376360-110376376 chrX:110376365-110376376
48	MAFK	chrX:110367745-110367942	HepG2	liver:	n/a	chrX:110367862-110367879
49	MAFK	chrX:110376207-110376407	IMR90	lung:	n/a	chrX:110376364-110376375 chrX:110376365-110376376 chrX:110376360-110376376 chrX:110376365-110376376
50	MXI1	chrX:110360558-110360569	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:110365767-110365817	Caco-2	colon:	n/a
2	chrX:110365767-110365817	SK-N-MC	brain:	n/a
3	chrX:110365603-110365653	ECC-1	luminal epithelium:	n/a
4	chrX:110366476-110366526	NH-A	brain:	n/a
5	chrX:110366476-110366526	T-47D	breast:	n/a
6	chrX:110366476-110366526	GM12892	blood:	n/a
7	chrX:110366476-110366526	AoSMC	blood vessel:	n/a
8	chrX:110365603-110365653	BJ	skin:	n/a
9	chrX:110365767-110365817	HIPEpiC	eye:	n/a
10	chrX:110366476-110366526	BJ	skin:	n/a
11	chrX:110365767-110365817	HCM	heart:	n/a
12	chrX:110365603-110365653	AoSMC	blood vessel:	n/a
13	chrX:110365847-110365897	NHBE	bronchial:	n/a
14	chrX:110366476-110366526	SK-N-MC	brain:	n/a
15	chrX:110365767-110365817	ProgFib	skin:	n/a
16	chrX:110365847-110365897	HIPEpiC	eye:	n/a
17	chrX:110365767-110365817	NB4	blood:	n/a
18	chrX:110365767-110365817	U87	brain:	n/a
19	chrX:110365603-110365653	Caco-2	colon:	n/a
20	chrX:110365847-110365897	HAEpiC	amniotic membrane:	n/a
21	chrX:110365603-110365653	HepG2	liver:	n/a
22	chrX:110365767-110365817	AG10803	skin:	n/a
23	chrX:110365767-110365817	H1-hESC	embryonic stem cell:	embryo
24	chrX:110365603-110365653	HCM	heart:	n/a
25	chrX:110366476-110366526	HEEpiC	esophagus:	n/a
26	chrX:110366476-110366526	Hela-S3	cervix:	n/a
27	chrX:110365603-110365653	GM12891	blood:	n/a
28	chrX:110366476-110366526	NHDF-neo	bronchial:	n/a
29	chrX:110365847-110365897	SAEC	small airway:	n/a
30	chrX:110365847-110365897	HCF	heart:	n/a
31	chrX:110366476-110366526	Caco-2	colon:	n/a
32	chrX:110366476-110366526	AG10803	skin:	n/a
33	chrX:110365847-110365897	HRCEpiC	kidney:	n/a
34	chrX:110365847-110365897	HepG2	liver:	n/a
35	chrX:110365603-110365653	HCPEpiC	choroid plexus:	n/a
36	chrX:110365603-110365653	HPAEpiC	pulmonary alveolar:	n/a
37	chrX:110365847-110365897	GM19239	blood:	n/a
38	chrX:110365767-110365817	NHDF-neo	bronchial:	n/a
39	chrX:110366476-110366526	SKMC	muscle:	n/a
40	chrX:110365603-110365653	SK-N-SH	brain:	n/a
41	chrX:110365603-110365653	HL-60	blood:	n/a
42	chrX:110365847-110365897	AG10803	skin:	n/a
43	chrX:110365767-110365817	HepG2	liver:	n/a
44	chrX:110366476-110366526	Hepatocyte	liver:	n/a
45	chrX:110365603-110365653	GM19239	blood:	n/a
46	chrX:110366476-110366526	HRE	kidney:	n/a
47	chrX:110365767-110365817	Jurkat	blood:	n/a
48	chrX:110365847-110365897	RPTEC	kidney:	n/a
49	chrX:110365847-110365897	IMR90	lung:	fetal
50	chrX:110365767-110365817	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:110368396..110371071-chrX:110375207..110377505,2	K562	blood:
2	chrX:110349889..110351867-chrX:110354398..110356796,2	MCF-7	breast:
3	chrX:110368396..110371071-chrX:110375207..110377505,2	K562	blood:
4	chrX:110349889..110351867-chrX:110354398..110356796,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG13-7	chrX:110367493-110372431	NONHSAT138174

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

Extended variants
information (count: 405 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111252975	chrX:110347098-110347099	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs60395416	chrX:110347130-110347131	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180769658	chrX:110347223-110347224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140660231	chrX:110347254-110347255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7065990	chrX:110347477-110347478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199554979	chrX:110347488-110347489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184679819	chrX:110347534-110347535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7062370	chrX:110347544-110347545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201744637	chrX:110347561-110347562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77068776	chrX:110347562-110347563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371923367	chrX:110347631-110347632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138468238	chrX:110347658-110347659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199783727	chrX:110347728-110347729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142391799	chrX:110347776-110347777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143009585	chrX:110347811-110347812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182232611	chrX:110348077-110348078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187296508	chrX:110348083-110348084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190494873	chrX:110348202-110348203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181699822	chrX:110348598-110348599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148226060	chrX:110348600-110348601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185608458	chrX:110348638-110348639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6642860	chrX:110348655-110348656	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201752399	chrX:110348748-110348749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532263784	chrX:110348760-110348761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182537288	chrX:110348783-110348784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141179297	chrX:110348839-110348840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34042700	chrX:110348897-110348898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5985318	chrX:110349079-110349080	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377666543	chrX:110349116-110349117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183944176	chrX:110349198-110349199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188844262	chrX:110349255-110349256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192028925	chrX:110349271-110349272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184438953	chrX:110349272-110349273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187016234	chrX:110349352-110349353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530956158	chrX:110349440-110349441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191858750	chrX:110349465-110349466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184819332	chrX:110349522-110349523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189279840	chrX:110349552-110349553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150774395	chrX:110349556-110349557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6642861	chrX:110349625-110349626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185612448	chrX:110349628-110349629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189564450	chrX:110349742-110349743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6642862	chrX:110349837-110349838	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374470417	chrX:110349886-110349887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143624321	chrX:110350129-110350130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553602147	chrX:110350243-110350244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12859316	chrX:110350340-110350341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377423021	chrX:110350387-110350388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371089925	chrX:110350389-110350390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181588143	chrX:110350422-110350423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

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
Sertoli-cell only syndrome	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:110340000-110348400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chrX:110340000-110351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:110340000-110353200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chrX:110340000-110374200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chrX:110340400-110347600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chrX:110340400-110349400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chrX:110341800-110349000	Weak transcription	NH-A	brain
8	chrX:110342200-110348000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chrX:110342400-110357800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chrX:110342600-110348200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chrX:110342800-110348200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chrX:110342800-110358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chrX:110342800-110362200	Weak transcription	Brain Angular Gyrus	brain
14	chrX:110344000-110349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chrX:110344200-110347400	Weak transcription	Spleen	Spleen
16	chrX:110344600-110349000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chrX:110345000-110348400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chrX:110345000-110348600	Weak transcription	Fetal Brain Male	brain
19	chrX:110345600-110357800	Weak transcription	Placenta	Placenta
20	chrX:110345600-110406200	Weak transcription	Brain Germinal Matrix	brain
21	chrX:110345800-110347200	Enhancers	Ovary	ovary
22	chrX:110345800-110349800	Strong transcription	Aorta	Aorta
23	chrX:110346000-110348200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chrX:110346000-110353600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chrX:110346400-110347200	Strong transcription	Fetal Muscle Trunk	muscle
26	chrX:110346400-110347200	Bivalent Enhancer	Fetal Stomach	stomach
27	chrX:110346400-110347200	Strong transcription	Pancreas	Pancrea
28	chrX:110346400-110351000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chrX:110346600-110350600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chrX:110347000-110347200	Weak transcription	Osteobl	bone
31	chrX:110347200-110349400	Weak transcription	Pancreas	Pancrea
32	chrX:110347200-110349800	Strong transcription	Fetal Muscle Leg	muscle
33	chrX:110347200-110355000	Weak transcription	Ovary	ovary
34	chrX:110347200-110372400	Weak transcription	Fetal Muscle Trunk	muscle
35	chrX:110347400-110348600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chrX:110347600-110348200	Weak transcription	Osteobl	bone
37	chrX:110347600-110349800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chrX:110347800-110348400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chrX:110347800-110371400	Weak transcription	HMEC	breast
40	chrX:110348000-110349800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chrX:110348200-110349600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chrX:110348200-110349800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chrX:110348200-110349800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chrX:110348400-110349600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chrX:110348400-110349800	Strong transcription	Osteobl	bone
46	chrX:110348400-110350000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chrX:110349000-110349600	Strong transcription	NH-A	brain
48	chrX:110349400-110349800	Strong transcription	Pancreas	Pancrea
49	chrX:110349400-110351400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chrX:110349600-110351000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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