Variant report

Variant	nsv510836
Chromosome Location	chrX:77796010-77825919
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	BCLAF1	chrX:77810950-77811256	GM12878	blood:	n/a	n/a
2	CHD2	chrX:77798430-77798456	GM12878	blood:	n/a	n/a
3	CTCF	chrX:77811000-77811150	GM12865	blood:	n/a	chrX:77811073-77811094
4	CTCF	chrX:77810960-77811110	GM12868	blood:	n/a	chrX:77811073-77811094
5	CTCF	chrX:77811020-77811170	GM12864	blood:	n/a	chrX:77811073-77811094
6	CTCF	chrX:77811020-77811170	NHDF-neo	bronchial:	n/a	chrX:77811073-77811094
7	CTCF	chrX:77810930-77811223	K562	blood:	n/a	chrX:77811073-77811094
8	CTCF	chrX:77810980-77811130	HEEpiC	esophagus:	n/a	chrX:77811073-77811094
9	CTCF	chrX:77818579-77818704	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chrX:77811019-77811123	Kidney_OC	kidney:	n/a	chrX:77811073-77811094
11	CTCF	chrX:77810840-77810990	HAc	cerebellar:	n/a	n/a
12	CTCF	chrX:77810960-77811110	GM12870	blood:	n/a	chrX:77811073-77811094
13	CTCF	chrX:77810940-77811090	AG09309	skin:	n/a	n/a
14	CTCF	chrX:77803216-77803303	Lung_OC	lung:	n/a	n/a
15	CTCF	chrX:77818604-77818712	Fibrobl	skin:	n/a	n/a
16	CTCF	chrX:77810960-77811110	HBMEC	blood vessel:	n/a	chrX:77811073-77811094
17	CTCF	chrX:77811005-77811141	LNCaP	prostate:	n/a	chrX:77811073-77811094
18	CTCF	chrX:77810960-77811110	HRE	kidney:	n/a	chrX:77811073-77811094
19	CTCF	chrX:77810983-77811154	GM10266	blood:	n/a	chrX:77811073-77811094
20	CTCF	chrX:77810957-77811104	HepG2	liver:	n/a	chrX:77811073-77811094
21	CTCF	chrX:77810980-77811130	GM12867	blood:	n/a	chrX:77811073-77811094
22	CTCF	chrX:77814300-77814397	LNCaP	prostate:	n/a	n/a
23	CTCF	chrX:77810980-77811130	AG04449	skin:	n/a	chrX:77811073-77811094
24	CTCF	chrX:77796543-77796632	GM10248	blood:	n/a	n/a
25	CTCF	chrX:77818654-77818716	GM12892	blood:	n/a	n/a
26	CTCF	chrX:77811020-77811170	GM12872	blood:	n/a	chrX:77811073-77811094
27	CTCF	chrX:77811040-77811190	HFF	foreskin:	n/a	chrX:77811073-77811094
28	CTCF	chrX:77811008-77811097	GM20000	blood:	n/a	chrX:77811073-77811094
29	CTCF	chrX:77810940-77811090	GM06990	blood:	n/a	n/a
30	CTCF	chrX:77810922-77811156	A549	lung:	n/a	chrX:77811073-77811094
31	CTCF	chrX:77811020-77811170	AG09319	gingival:	n/a	chrX:77811073-77811094
32	CTCF	chrX:77818580-77818730	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chrX:77810871-77811289	IMR90	lung:	n/a	chrX:77811073-77811094
34	CTCF	chrX:77818600-77818750	HEK293	kidney:	n/a	n/a
35	CTCF	chrX:77810960-77811195	Medullo	brain:	n/a	chrX:77811073-77811094
36	CTCF	chrX:77816337-77816435	GM10248	blood:	n/a	n/a
37	CTCF	chrX:77810982-77811146	GM10248	blood:	n/a	chrX:77811073-77811094
38	CTCF	chrX:77810980-77811130	HMF	breast:	n/a	chrX:77811073-77811094
39	CTCF	chrX:77818576-77818663	ProgFib	skin:	n/a	n/a
40	CTCF	chrX:77810920-77811070	HMEC	breast:	n/a	n/a
41	CTCF	chrX:77811000-77811150	AG04450	lung:	n/a	chrX:77811073-77811094
42	CTCF	chrX:77811000-77811150	HFF-Myc	foreskin:	n/a	chrX:77811073-77811094
43	CTCF	chrX:77810922-77811201	Spleen_OC	spleen:	n/a	chrX:77811073-77811094
44	CTCF	chrX:77810860-77811010	NHLF	lung:	n/a	n/a
45	CTCF	chrX:77810958-77811184	HUVEC	blood vessel:	n/a	chrX:77811073-77811094
46	CTCF	chrX:77810980-77811130	HMEC	breast:	n/a	chrX:77811073-77811094
47	CTCF	chrX:77811000-77811150	MCF-7	breast:	n/a	chrX:77811073-77811094
48	CTCF	chrX:77810960-77811100	A549	lung:	n/a	chrX:77811073-77811094
49	CTCF	chrX:77810900-77811050	BE2_C	brain:	n/a	n/a
50	CTCF	chrX:77818540-77818690	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:77811500..77813088-chrX:78666250..78667785,2	MCF-7	breast:
2	chrX:77810818..77811621-chrX:78337177..78337725,3	MCF-7	breast:
3	chrX:77810661..77811278-chrX:78780189..78780762,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZCCHC5-2	chrX:77809909-77810248	NONHSAT137706

Variant related genes	Relation type
UBE2V1P7	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73627490	chrX:77796063-77796064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369774052	chrX:77796092-77796093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73227638	chrX:77796106-77796107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112264994	chrX:77796132-77796133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373638587	chrX:77796256-77796257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112586398	chrX:77796285-77796286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112428343	chrX:77796293-77796294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189054228	chrX:77796490-77796491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192488349	chrX:77796507-77796508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184847881	chrX:77796578-77796579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569175542	chrX:77803002-77803003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534100829	chrX:77803172-77803173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16978773	chrX:77803301-77803302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138779397	chrX:77803338-77803339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184041971	chrX:77803361-77803362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142809967	chrX:77803549-77803550	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200860287	chrX:77803580-77803581	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs73508757	chrX:77803591-77803592	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs147422323	chrX:77803630-77803631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188727446	chrX:77803633-77803634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181390691	chrX:77803647-77803648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184460235	chrX:77803653-77803654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139211764	chrX:77803699-77803700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536937718	chrX:77803890-77803891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs5958834	chrX:77803904-77803905	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373177856	chrX:77803907-77803908	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs149452275	chrX:77803985-77803986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374643861	chrX:77804025-77804026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112580519	chrX:77804046-77804047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554694010	chrX:77804087-77804088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190429257	chrX:77804089-77804090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182072373	chrX:77804184-77804185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10126095	chrX:77804240-77804241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187431983	chrX:77804266-77804267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs756384	chrX:77804280-77804281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566855943	chrX:77804383-77804384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200163687	chrX:77804422-77804423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200740017	chrX:77804424-77804425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202014058	chrX:77804428-77804429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112759755	chrX:77804434-77804435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397896679	chrX:77804467-77804468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73508761	chrX:77810080-77810081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182790302	chrX:77810163-77810164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs35101586	chrX:77810774-77810775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs188350945	chrX:77810898-77810899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs140917121	chrX:77810943-77810944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs370099452	chrX:77811101-77811102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370217857	chrX:77811144-77811145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs35527677	chrX:77811232-77811233	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200992781	chrX:77811234-77811235	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

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
Acute myeloid leukemia	20729466	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
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	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
Premature ovarian failure	20952765	CNVD
Astrocytoma	22246337	CNVD
Mental retardation	17339581	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:77796000-77796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chrX:77803000-77803400	Enhancers	Muscle Satellite Cultured Cells	--
3	chrX:77803400-77803600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chrX:77803400-77804000	Enhancers	NHDF-Ad	bronchial
5	chrX:77803400-77804000	Enhancers	NHEK	skin
6	chrX:77803400-77804200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chrX:77803600-77803800	Enhancers	Muscle Satellite Cultured Cells	--
8	chrX:77803800-77804000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chrX:77804000-77804400	Enhancers	Muscle Satellite Cultured Cells	--
10	chrX:77804000-77804600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chrX:77811200-77811800	Enhancers	Primary T cells from cord blood	blood
12	chrX:77811200-77812200	Enhancers	Dnd41	blood

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