Variant report

Variant	nsv522469
Chromosome Location	chrX:33065888-33320612
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:33144820-33145008	HepG2	liver:	n/a	n/a
2	BACH1	chrX:33147409-33147431	K562	blood:	n/a	n/a
3	BACH1	chrX:33270668-33270839	H1-hESC	embryonic stem cell:	n/a	chrX:33270743-33270757
4	BHLHE40	chrX:33128028-33128289	HepG2	liver:	n/a	n/a
5	BRCA1	chrX:33316811-33316859	GM12878	blood:	n/a	n/a
6	BRCA1	chrX:33165997-33166016	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chrX:33213590-33214003	IMR90	lung:	n/a	n/a
8	CEBPB	chrX:33160540-33160740	H1-hESC	embryonic stem cell:	n/a	chrX:33160655-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160657-33160666
9	CEBPB	chrX:33151479-33151834	Hela-S3	cervix:	n/a	chrX:33151746-33151758
10	CEBPB	chrX:33148366-33148473	HepG2	liver:	n/a	chrX:33148389-33148398 chrX:33148387-33148398
11	CEBPB	chrX:33171534-33171732	H1-hESC	embryonic stem cell:	n/a	chrX:33171615-33171624 chrX:33171613-33171626 chrX:33171615-33171624 chrX:33171615-33171624
12	CEBPB	chrX:33195772-33196058	IMR90	lung:	n/a	n/a
13	CEBPB	chrX:33223125-33223751	Hela-S3	cervix:	n/a	chrX:33223299-33223312
14	CEBPB	chrX:33197332-33197603	IMR90	lung:	n/a	n/a
15	CEBPB	chrX:33223111-33223603	IMR90	lung:	n/a	chrX:33223299-33223312
16	CEBPB	chrX:33290544-33290954	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chrX:33313671-33313922	IMR90	lung:	n/a	chrX:33313803-33313814 chrX:33313803-33313816
18	CEBPB	chrX:33144791-33145012	HepG2	liver:	n/a	n/a
19	CEBPB	chrX:33148264-33148522	IMR90	lung:	n/a	chrX:33148389-33148398 chrX:33148387-33148398
20	CEBPB	chrX:33160475-33160841	IMR90	lung:	n/a	chrX:33160655-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160657-33160666
21	CEBPB	chrX:33160497-33160849	Hela-S3	cervix:	n/a	chrX:33160655-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160657-33160666
22	CEBPB	chrX:33091405-33091686	IMR90	lung:	n/a	n/a
23	CEBPB	chrX:33160520-33160820	HepG2	liver:	n/a	chrX:33160655-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160655-33160668 chrX:33160657-33160666 chrX:33160657-33160666
24	CEBPB	chrX:33171612-33171646	K562	blood:	n/a	chrX:33171615-33171624 chrX:33171613-33171626 chrX:33171615-33171624 chrX:33171615-33171624
25	CEBPB	chrX:33151562-33151721	IMR90	lung:	n/a	n/a
26	CEBPB	chrX:33089575-33089851	IMR90	lung:	n/a	n/a
27	CEBPB	chrX:33171438-33171776	IMR90	lung:	n/a	chrX:33171615-33171624 chrX:33171613-33171626 chrX:33171615-33171624 chrX:33171615-33171624
28	CEBPB	chrX:33151542-33151711	A549	lung:	n/a	n/a
29	CHD1	chrX:33146368-33146591	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chrX:33229480-33229630	HMF	breast:	n/a	n/a
31	CTCF	chrX:33255731-33255769	GM20000	blood:	n/a	n/a
32	CTCF	chrX:33099685-33099787	GM20000	blood:	n/a	n/a
33	CTCF	chrX:33152132-33152188	GM10266	blood:	n/a	n/a
34	CTCF	chrX:33295691-33295706	GM20000	blood:	n/a	n/a
35	CTCF	chrX:33286736-33286791	Medullo	brain:	n/a	n/a
36	CTCF	chrX:33089432-33089501	GM20000	blood:	n/a	n/a
37	CTCF	chrX:33213185-33213241	GM20000	blood:	n/a	n/a
38	CTCF	chrX:33169120-33169270	BE2_C	brain:	n/a	n/a
39	CTCF	chrX:33207756-33207836	GM20000	blood:	n/a	n/a
40	CTCF	chrX:33268497-33268587	GM10248	blood:	n/a	n/a
41	CTCF	chrX:33167397-33167492	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chrX:33268749-33268833	GM20000	blood:	n/a	n/a
43	CTCF	chrX:33121448-33121533	GM20000	blood:	n/a	n/a
44	CTCF	chrX:33130951-33130972	GM20000	blood:	n/a	n/a
45	CTCF	chrX:33126576-33126627	LNCaP	prostate:	n/a	n/a
46	CTCF	chrX:33164222-33164291	Medullo	brain:	n/a	n/a
47	CTCF	chrX:33149942-33149981	GM10248	blood:	n/a	n/a
48	CTCF	chrX:33279025-33279089	LNCaP	prostate:	n/a	n/a
49	CTCF	chrX:33308170-33308224	LNCaP	prostate:	n/a	n/a
50	CTCF	chrX:33229500-33229650	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:33231153-33231203	RPTEC	kidney:	n/a
2	chrX:33229714-33229764	HRE	kidney:	n/a
3	chrX:33229454-33229504	PrEC	prostate:	n/a
4	chrX:33231153-33231203	RPTEC	kidney:	n/a
5	chrX:33229714-33229764	HRE	kidney:	n/a
6	chrX:33229454-33229504	PrEC	prostate:	n/a
7	chrX:33229689-33229739	BE2_C	brain:	n/a
8	chrX:33146609-33146659	HRPEpiC	eye:	n/a
9	chrX:33231137-33231187	SK-N-SH_RA	brain:	n/a
10	chrX:33231153-33231203	Hela-S3	cervix:	n/a
11	chrX:33147978-33148028	LNCaP	prostate:	n/a
12	chrX:33229689-33229739	PANC-1	pancreas:	n/a
13	chrX:33146500-33146550	BE2_C	brain:	n/a
14	chrX:33146493-33146543	T-47D	breast:	n/a
15	chrX:33146609-33146659	NB4	blood:	n/a
16	chrX:33146493-33146543	GM12891	blood:	n/a
17	chrX:33147978-33148028	RPTEC	kidney:	n/a
18	chrX:33231137-33231187	AG09309	skin:	n/a
19	chrX:33146500-33146550	HNPCEpiC	eye:	n/a
20	chrX:33146609-33146659	HCPEpiC	choroid plexus:	n/a
21	chrX:33229689-33229739	CMK	blood:	n/a
22	chrX:33146500-33146550	H1-hESC	embryonic stem cell:	embryo
23	chrX:33231137-33231187	HCPEpiC	choroid plexus:	n/a
24	chrX:33229714-33229764	NB4	blood:	n/a
25	chrX:33229454-33229504	NH-A	brain:	n/a
26	chrX:33231153-33231203	SK-N-SH_RA	brain:	n/a
27	chrX:33146493-33146543	NHDF-neo	bronchial:	n/a
28	chrX:33146500-33146550	LNCaP	prostate:	n/a
29	chrX:33229689-33229739	BJ	skin:	n/a
30	chrX:33231137-33231187	HUVEC	blood vessel:	n/a
31	chrX:33229714-33229764	HIPEpiC	eye:	n/a
32	chrX:33229454-33229504	ECC-1	luminal epithelium:	n/a
33	chrX:33147978-33148028	HUVEC	blood vessel:	n/a
34	chrX:33229454-33229504	HUVEC	blood vessel:	n/a
35	chrX:33146609-33146659	NH-A	brain:	n/a
36	chrX:33229714-33229764	GM19239	blood:	n/a
37	chrX:33229689-33229739	Hepatocyte	liver:	n/a
38	chrX:33146493-33146543	MCF-7	breast:	n/a
39	chrX:33146609-33146659	HRE	kidney:	n/a
40	chrX:33146500-33146550	SAEC	small airway:	n/a
41	chrX:33229454-33229504	AG09319	gingival:	n/a
42	chrX:33229714-33229764	MCF-7	breast:	n/a
43	chrX:33147978-33148028	T-47D	breast:	n/a
44	chrX:33231137-33231187	GM19239	blood:	n/a
45	chrX:33229689-33229739	Hela-S3	cervix:	n/a
46	chrX:33146500-33146550	AG04449	skin:	fetal
47	chrX:33146609-33146659	MCF-7	breast:	n/a
48	chrX:33147978-33148028	ProgFib	skin:	n/a
49	chrX:33146609-33146659	HAEpiC	amniotic membrane:	n/a
50	chrX:33229454-33229504	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:79502951..79504471-chrX:33134966..33136486,2	MCF-7	breast:
2	chr1:188146014..188146534-chrX:33134463..33134983,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM47A-3	chrX:33229399-33229549	NONHSAT136602
2	lnc-FAM47A-3	chrX:33146180-33146544	NONHSAT136601
3	lnc-FAM47A-3	chrX:33177312-33177714	NONHSAT136602

Variant related genes	Relation type
DMD	TF binding region
DMD	CpG island
ENSG00000171033	chromatin interactions

Extended variants
information (count: 2897 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:2897 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2765386	chrX:33065888-33065889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184641187	chrX:33065906-33065907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149837887	chrX:33065924-33065925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560218603	chrX:33066026-33066027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370665299	chrX:33066167-33066168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146330579	chrX:33066189-33066190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189160399	chrX:33066198-33066199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5972741	chrX:33066326-33066327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371161360	chrX:33066400-33066401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144300445	chrX:33066469-33066470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5972742	chrX:33066510-33066511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181495672	chrX:33066614-33066615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375422993	chrX:33066744-33066745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368289583	chrX:33066782-33066783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77771650	chrX:33066810-33066811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186279027	chrX:33066894-33066895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149143357	chrX:33066903-33066904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2225013	chrX:33066921-33066922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151233666	chrX:33066953-33066954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140285424	chrX:33067057-33067058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527366337	chrX:33067093-33067094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189964147	chrX:33067095-33067096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7885116	chrX:33067101-33067102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181603687	chrX:33067152-33067153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138115890	chrX:33067189-33067190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185714681	chrX:33067257-33067258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191057026	chrX:33067338-33067339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2765387	chrX:33067359-33067360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6631727	chrX:33067405-33067406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183874392	chrX:33067429-33067430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2765388	chrX:33067502-33067503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149252469	chrX:33067534-33067535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2765389	chrX:33067594-33067595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148387627	chrX:33067616-33067617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375020344	chrX:33067651-33067652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6631728	chrX:33067795-33067796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146349555	chrX:33067797-33067798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545827439	chrX:33067916-33067917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187991275	chrX:33068125-33068126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201390256	chrX:33068188-33068189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2765390	chrX:33068538-33068539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139718388	chrX:33068593-33068594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113620100	chrX:33068734-33068735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182677914	chrX:33068740-33068741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73452023	chrX:33068758-33068759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111292887	chrX:33068827-33068828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2765391	chrX:33068863-33068864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145713596	chrX:33068986-33068987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375274424	chrX:33069040-33069041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73621871	chrX:33069085-33069086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:33058200-33072800	Weak transcription	HSMMtube	muscle
2	chrX:33059600-33096800	Weak transcription	HSMM	muscle
3	chrX:33063400-33068600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chrX:33063600-33072600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chrX:33065400-33095600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chrX:33065800-33066000	Enhancers	Fetal Heart	heart
7	chrX:33068600-33068800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chrX:33068800-33069200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chrX:33072200-33072400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chrX:33072800-33073200	Enhancers	Muscle Satellite Cultured Cells	--
11	chrX:33072800-33073200	Enhancers	HSMMtube	muscle
12	chrX:33072800-33073600	Enhancers	Brain Anterior Caudate	brain
13	chrX:33073000-33073200	Enhancers	Brain Substantia Nigra	brain
14	chrX:33073200-33074000	Weak transcription	Brain Substantia Nigra	brain
15	chrX:33073200-33099200	Weak transcription	HSMMtube	muscle
16	chrX:33074000-33074200	Enhancers	Brain Substantia Nigra	brain
17	chrX:33074200-33079400	Weak transcription	Brain Substantia Nigra	brain
18	chrX:33079400-33080000	Enhancers	Brain Substantia Nigra	brain
19	chrX:33079600-33080000	Enhancers	Brain Anterior Caudate	brain
20	chrX:33079600-33080000	Enhancers	Brain Cingulate Gyrus	brain
21	chrX:33079600-33080200	Enhancers	Brain Angular Gyrus	brain
22	chrX:33079800-33080400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chrX:33080000-33081200	Weak transcription	Brain Cingulate Gyrus	brain
24	chrX:33080000-33081800	Weak transcription	Brain Substantia Nigra	brain
25	chrX:33080200-33081800	Weak transcription	Brain Angular Gyrus	brain
26	chrX:33080400-33080800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chrX:33080800-33081000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chrX:33081000-33082800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chrX:33081400-33081600	Enhancers	Brain Cingulate Gyrus	brain
30	chrX:33081800-33082000	Enhancers	Brain Angular Gyrus	brain
31	chrX:33081800-33082000	Enhancers	Brain Substantia Nigra	brain
32	chrX:33082800-33084200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chrX:33084200-33088000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chrX:33084600-33094000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chrX:33087400-33087800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chrX:33088000-33088400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chrX:33088200-33089200	Enhancers	Brain Angular Gyrus	brain
38	chrX:33090200-33090400	Enhancers	Left Ventricle	heart
39	chrX:33090400-33103800	Weak transcription	Left Ventricle	heart
40	chrX:33091400-33095400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chrX:33093000-33095800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chrX:33093200-33093600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chrX:33094000-33094400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chrX:33094000-33095800	Strong transcription	Stomach Smooth Muscle	stomach
45	chrX:33094400-33094600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chrX:33094400-33094600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
47	chrX:33094600-33095000	Strong transcription	Muscle Satellite Cultured Cells	--
48	chrX:33094600-33095400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chrX:33094800-33095200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chrX:33094800-33111800	Weak transcription	Colon Smooth Muscle	Colon

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