Variant report

Variant	esv3392998
Chromosome Location	chrX:65255877-65258525
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	GATA1	chrX:65254943-65256287	PBDE	blood:	n/a	chrX:65255603-65255616 chrX:65255224-65255232
2	MAFK	chrX:65257596-65257759	HepG2	liver:	n/a	n/a
3	POLR2A	chrX:65258099-65258165	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chrX:65255935-65256074	MCF10A-Er-Src	breast:	n/a	n/a
5	SMC3	chrX:65256257-65256366	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:65257688..65259866-chrX:65261443..65263005,2	K562	blood:

Variant related genes	Relation type
VSIG4	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 45 )

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	rs148719014	chrX:65255895-65255896	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs576637079	chrX:65255899-65255900	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192448032	chrX:65255977-65255978	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184857458	chrX:65255981-65255982	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188177297	chrX:65255990-65255991	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs142344771	chrX:65256033-65256034	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs374797592	chrX:65256090-65256091	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369497697	chrX:65256106-65256107	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs151282435	chrX:65256116-65256117	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs5965087	chrX:65256236-65256237	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193166928	chrX:65256362-65256363	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543765776	chrX:65256367-65256368	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113783814	chrX:65256397-65256398	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111627420	chrX:65256440-65256441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184620778	chrX:65256536-65256537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189941272	chrX:65256596-65256597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181372459	chrX:65256769-65256770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183729136	chrX:65256815-65256816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376644681	chrX:65256946-65256947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368672449	chrX:65256961-65256962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371633788	chrX:65256967-65256968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375018076	chrX:65256970-65256971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368839291	chrX:65256976-65256977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371379960	chrX:65256984-65256985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375274478	chrX:65256999-65257000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369879136	chrX:65257005-65257006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374102609	chrX:65257009-65257010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368786318	chrX:65257016-65257017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374615969	chrX:65257017-65257018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377696271	chrX:65257098-65257099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376701816	chrX:65257109-65257110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369895324	chrX:65257113-65257114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373567409	chrX:65257115-65257116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369611924	chrX:65257120-65257121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373566389	chrX:65257131-65257132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377585904	chrX:65257132-65257133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370123928	chrX:65257137-65257138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376561448	chrX:65257138-65257139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374886677	chrX:65257146-65257147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377079514	chrX:65257150-65257151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370876699	chrX:65257160-65257161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373949923	chrX:65257164-65257165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371085202	chrX:65257172-65257173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375604286	chrX:65257175-65257176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368317986	chrX:65257178-65257179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111221155	chrX:65257216-65257217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188445326	chrX:65257238-65257239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181916595	chrX:65257285-65257286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111221104	chrX:65257308-65257309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187406517	chrX:65257383-65257384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Intellectual disability	23615299	CNVD
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
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Astrocytoma	22246337	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Craniofrontonasal syndrome	21572526	CNVD
Cerebellar hypoplasia	21569638	CNVD
Disorders of sex development	21048976	CNVD
Myxofibrosarcoma	16751306	CNVD
Cervical cancer	21062161	CNVD
Cancer	22429812	CNVD
Cancer	16751803	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:65251000-65259000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chrX:65255400-65256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chrX:65255400-65256400	Enhancers	K562	blood
4	chrX:65255600-65256400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chrX:65255800-65256000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chrX:65255800-65256200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:65255800-65256200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chrX:65256200-65256400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chrX:65256400-65259000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chrX:65256400-65265400	Weak transcription	K562	blood
11	chrX:65257600-65260000	Active TSS	Adipose Nuclei	Adipose
12	chrX:65257800-65259800	Active TSS	Placenta	Placenta
13	chrX:65258000-65258400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chrX:65258200-65259600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chrX:65258400-65259800	Active TSS	Brain Hippocampus Middle	brain

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