Variant report

Variant	nsv932174
Chromosome Location	chrX:5900508-6018691
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	ARID3A	chrX:5939545-5939724	HepG2	liver:	n/a	n/a
2	BACH1	chrX:5933538-5933757	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chrX:5914130-5914334	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chrX:5933456-5933812	GM12878	blood:	n/a	n/a
5	CEBPB	chrX:5961398-5961625	IMR90	lung:	n/a	chrX:5961510-5961521
6	CEBPB	chrX:5930405-5930778	A549	lung:	n/a	chrX:5930590-5930601
7	CEBPB	chrX:5930411-5930766	IMR90	lung:	n/a	chrX:5930590-5930601
8	CEBPB	chrX:5930410-5930763	HepG2	liver:	n/a	chrX:5930590-5930601
9	CEBPB	chrX:5929097-5929277	HepG2	liver:	n/a	chrX:5929164-5929177 chrX:5929164-5929175
10	CEBPB	chrX:5930421-5930781	H1-hESC	embryonic stem cell:	n/a	chrX:5930590-5930601
11	CEBPB	chrX:5961464-5961680	HepG2	liver:	n/a	chrX:5961510-5961521
12	CEBPB	chrX:5940708-5941207	HepG2	liver:	n/a	chrX:5941068-5941079 chrX:5941067-5941080
13	CEBPB	chrX:5932685-5932910	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chrX:5930419-5930753	K562	blood:	n/a	chrX:5930590-5930601
15	CHD1	chrX:5944660-5944719	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chrX:5944567-5944649	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chrX:5939480-5939630	HRE	kidney:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
18	CTCF	chrX:6013680-6013830	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chrX:6013700-6013850	GM12868	blood:	n/a	n/a
20	CTCF	chrX:6013688-6013792	Gliobla	brain:	n/a	n/a
21	CTCF	chrX:5939402-5939696	GM19238	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
22	CTCF	chrX:5939520-5939670	NHDF-neo	bronchial:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
23	CTCF	chrX:5939500-5939650	GM12870	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
24	CTCF	chrX:5939480-5939630	HFF-Myc	foreskin:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
25	CTCF	chrX:6013588-6013900	GM12878	blood:	n/a	n/a
26	CTCF	chrX:6013640-6013790	GM12866	blood:	n/a	n/a
27	CTCF	chrX:5939460-5939610	AG09319	gingival:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
28	CTCF	chrX:6013740-6013890	GM06990	blood:	n/a	n/a
29	CTCF	chrX:5939416-5939701	LNCaP	prostate:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
30	CTCF	chrX:5939440-5939590	GM12872	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
31	CTCF	chrX:5939218-5939328	GM12891	blood:	n/a	n/a
32	CTCF	chrX:5939425-5939682	GM10266	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
33	CTCF	chrX:5939500-5939650	HL-60	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
34	CTCF	chrX:5939460-5939610	K562	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
35	CTCF	chrX:5939284-5939291	GM13977	blood:	n/a	n/a
36	CTCF	chrX:5962038-5962097	LNCaP	prostate:	n/a	n/a
37	CTCF	chrX:5939480-5939630	BE2_C	brain:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
38	CTCF	chrX:6018214-6018330	GM20000	blood:	n/a	n/a
39	CTCF	chrX:5920110-5920127	GM10248	blood:	n/a	n/a
40	CTCF	chrX:5939480-5939630	GM12873	blood:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
41	CTCF	chrX:6013647-6013795	Hela-S3	cervix:	n/a	n/a
42	CTCF	chrX:5918480-5918630	GM12867	blood:	n/a	n/a
43	CTCF	chrX:5907862-5907896	GM20000	blood:	n/a	n/a
44	CTCF	chrX:5939480-5939630	HepG2	liver:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
45	CTCF	chrX:6013660-6013810	GM12874	blood:	n/a	n/a
46	CTCF	chrX:5920306-5920370	HepG2	liver:	n/a	chrX:5920341-5920354 chrX:5920345-5920354 chrX:5920342-5920352 chrX:5920339-5920357
47	CTCF	chrX:5997795-5997818	GM20000	blood:	n/a	n/a
48	CTCF	chrX:6013657-6013821	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chrX:5939440-5939590	NHLF	lung:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572
50	CTCF	chrX:5939460-5939610	Caco-2	colon:	n/a	chrX:5939558-5939579 chrX:5939556-5939574 chrX:5939559-5939572

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:5961169-5961219	GM12892	blood:	n/a
2	chrX:5961169-5961219	GM19239	blood:	n/a
3	chrX:5961169-5961219	HCT-116	colon:	n/a
4	chrX:5961169-5961219	NHBE	bronchial:	n/a
5	chrX:5961169-5961219	PFSK-1	brain:	n/a
6	chrX:5961169-5961219	SAEC	small airway:	n/a
7	chrX:5961169-5961219	ovcar-3	ovarian:	n/a
8	chrX:5961169-5961219	HL-60	blood:	n/a
9	chrX:5961169-5961219	CMK	blood:	n/a
10	chrX:5961169-5961219	NT2-D1	testis:	n/a
11	chrX:5961169-5961219	K562	blood:	n/a
12	chrX:5961169-5961219	HRCEpiC	kidney:	n/a
13	chrX:5961169-5961219	Jurkat	blood:	n/a
14	chrX:5961169-5961219	RPTEC	kidney:	n/a
15	chrX:5961169-5961219	SKMC	muscle:	n/a
16	chrX:5961169-5961219	SK-N-MC	brain:	n/a
17	chrX:5961169-5961219	AG09319	gingival:	n/a
18	chrX:5961169-5961219	BJ	skin:	n/a
19	chrX:5961169-5961219	AG10803	skin:	n/a
20	chrX:5961169-5961219	HEEpiC	esophagus:	n/a
21	chrX:5961169-5961219	HRE	kidney:	n/a
22	chrX:5961169-5961219	BE2_C	brain:	n/a
23	chrX:5961169-5961219	AG09309	skin:	n/a
24	chrX:5961169-5961219	HCF	heart:	n/a
25	chrX:5961169-5961219	HCM	heart:	n/a
26	chrX:5961169-5961219	U87	brain:	n/a
27	chrX:5961169-5961219	AoSMC	blood vessel:	n/a
28	chrX:5961169-5961219	MCF-7	breast:	n/a
29	chrX:5961169-5961219	LNCaP	prostate:	n/a
30	chrX:5961169-5961219	Caco-2	colon:	n/a
31	chrX:5961169-5961219	HEK293	kidney:	embryo
32	chrX:5961169-5961219	IMR90	lung:	fetal
33	chrX:5961169-5961219	HIPEpiC	eye:	n/a
34	chrX:5961169-5961219	Hepatocyte	liver:	n/a
35	chrX:5961169-5961219	GM12891	blood:	n/a
36	chrX:5961169-5961219	NHDF-neo	bronchial:	n/a
37	chrX:5961169-5961219	NH-A	brain:	n/a
38	chrX:5961169-5961219	GM06990	blood:	n/a
39	chrX:5961169-5961219	HepG2	liver:	n/a
40	chrX:5961169-5961219	H1-hESC	embryonic stem cell:	embryo
41	chrX:5961169-5961219	HRPEpiC	eye:	n/a
42	chrX:5961169-5961219	MCF10A-Er-Src	breast:	n/a
43	chrX:5961169-5961219	SK-N-SH	brain:	n/a
44	chrX:5961169-5961219	ProgFib	skin:	n/a
45	chrX:5961169-5961219	SK-N-SH_RA	brain:	n/a
46	chrX:5961169-5961219	ECC-1	luminal epithelium:	n/a
47	chrX:5961169-5961219	HUVEC	blood vessel:	n/a
48	chrX:5961169-5961219	HAEpiC	amniotic membrane:	n/a
49	chrX:5961169-5961219	Hela-S3	cervix:	n/a
50	chrX:5961169-5961219	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:5939484..5940010-chrX:6281086..6281665,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252291	TF binding region
ENSG00000252291	CpG island

Extended variants
information (count: 2010 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564658890	chrX:5900743-5900744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191569580	chrX:5900785-5900786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375198040	chrX:5900819-5900820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6638586	chrX:5900905-5900906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147786272	chrX:5900915-5900916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369754026	chrX:5900995-5900996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113343115	chrX:5901034-5901035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6639557	chrX:5901087-5901088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529232133	chrX:5901232-5901233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201236730	chrX:5901247-5901248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71821945	chrX:5901248-5901249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183991482	chrX:5901434-5901435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145323753	chrX:5901487-5901488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5961910	chrX:5901492-5901493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372310688	chrX:5901544-5901545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180853616	chrX:5901658-5901659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149200376	chrX:5901811-5901812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34031632	chrX:5901814-5901815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186139984	chrX:5901857-5901858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548929721	chrX:5901960-5901961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143388102	chrX:5902036-5902037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146892246	chrX:5902068-5902069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35640435	chrX:5902264-5902265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562562339	chrX:5902300-5902301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5961911	chrX:5902311-5902312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74946685	chrX:5902316-5902317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76779305	chrX:5902413-5902414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549401348	chrX:5902421-5902422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200301991	chrX:5902503-5902504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201307322	chrX:5902508-5902509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111810945	chrX:5902685-5902686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138282841	chrX:5902790-5902791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190536223	chrX:5902886-5902887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113952215	chrX:5902896-5902897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182244260	chrX:5902897-5902898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141904092	chrX:5902996-5902997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4463568	chrX:5903017-5903018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185950183	chrX:5903019-5903020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34882732	chrX:5903105-5903106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113194749	chrX:5903247-5903248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112287555	chrX:5903477-5903478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7885973	chrX:5903493-5903494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373999670	chrX:5903570-5903571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556169838	chrX:5903769-5903770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72627601	chrX:5903772-5903773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190715104	chrX:5903890-5903891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182533621	chrX:5903942-5903943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142676019	chrX:5903963-5903964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185674781	chrX:5904043-5904044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371764941	chrX:5904068-5904069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
short stature	22470819	CNVD
turner syndrome	20877625	CNVD
Kallmann Syndrome 1	22470819	CNVD
Oro-facial digital syndrome	19023858	CNVD
Oro-facial digital syndrome	21572526	CNVD
Aicardi syndrome	21572526	CNVD
Vermis hypoplasia	21569638	CNVD
Opitz syndrome	21569638	CNVD
Opitz syndrome	21572526	CNVD
Oro-facial digital syndrome	21569638	CNVD
Abnormal corpus callosum	21572526	CNVD
T-cell lymphomas	19863542	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Seminomas	18059402	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Mental retardation	17406619	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21785460	CNVD
XY gonadal dysgenesis	20685758	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20486941	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20643418	CNVD
Autism	23710042	CNVD
Schizophrenia	23710042	CNVD
Abnormal phenotypes	21355048	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Microphthalmia	21572526	CNVD
Steroid sulfatase deficiency	21549014	CNVD
Attention deficit hyperactivity disorder	21355048	CNVD
Ichthyosis	21355048	CNVD
Mental retardation	21355048	CNVD
Immune disease	21076436	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:5887000-5901000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chrX:5897600-5904800	Weak transcription	Dnd41	blood
3	chrX:5901000-5901200	Enhancers	H9 Cell Line	embryonic stem cell
4	chrX:5904800-5906600	Strong transcription	Dnd41	blood
5	chrX:5906600-5910800	Weak transcription	Dnd41	blood
6	chrX:5908400-5909600	Enhancers	Fetal Brain Male	brain
7	chrX:5908800-5909000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chrX:5908800-5909000	Enhancers	Fetal Brain Female	brain
9	chrX:5908800-5909200	Enhancers	H9 Cell Line	embryonic stem cell
10	chrX:5908800-5909200	Enhancers	Ovary	ovary
11	chrX:5908800-5910000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chrX:5909000-5909800	Enhancers	H1 Cell Line	embryonic stem cell
13	chrX:5909000-5916800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chrX:5909200-5920200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chrX:5909400-5911000	Weak transcription	Fetal Thymus	thymus
16	chrX:5909600-5909800	Enhancers	Fetal Brain Female	brain
17	chrX:5909600-5916000	Weak transcription	Fetal Brain Male	brain
18	chrX:5909600-5920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chrX:5909600-5920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chrX:5910000-5920400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chrX:5910800-5915200	Strong transcription	Dnd41	blood
22	chrX:5911000-5911400	Strong transcription	Fetal Thymus	thymus
23	chrX:5911400-5939800	Weak transcription	Fetal Thymus	thymus
24	chrX:5911600-5915800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chrX:5913400-5913800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chrX:5914000-5914600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chrX:5914400-5914600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chrX:5914600-5917400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:5914600-5920200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chrX:5915200-5916800	Weak transcription	Dnd41	blood
31	chrX:5915800-5918400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chrX:5916000-5916200	Enhancers	Fetal Brain Male	brain
33	chrX:5916200-5917000	Weak transcription	Fetal Brain Male	brain
34	chrX:5916400-5917800	Enhancers	Fetal Brain Female	brain
35	chrX:5916400-5923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chrX:5916600-5917600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:5916800-5917400	Enhancers	Brain Hippocampus Middle	brain
38	chrX:5916800-5918400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chrX:5916800-5924200	Strong transcription	Dnd41	blood
40	chrX:5917000-5917400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chrX:5917000-5918000	Enhancers	Fetal Brain Male	brain
42	chrX:5917000-5918600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chrX:5917400-5917800	Weak transcription	Brain Hippocampus Middle	brain
44	chrX:5917400-5918200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chrX:5917800-5918200	Enhancers	Brain Hippocampus Middle	brain
46	chrX:5918400-5922600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chrX:5918600-5922600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chrX:5920200-5921000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chrX:5920200-5921600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chrX:5920200-5922000	Enhancers	H9 Cell Line	embryonic stem cell

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