Variant report

Variant	esv2752337
Chromosome Location	chrX:79129588-79238458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:79132290..79134398-chrX:79136094..79138656,2	MCF-7	breast:
2	chrX:79111031..79113848-chrX:79129901..79131563,2	K562	blood:
3	chrX:79132290..79134398-chrX:79136094..79138656,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571241026	chrX:79182047-79182048	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187181552	chrX:79182092-79182093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs137877892	chrX:79182117-79182118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191365755	chrX:79182164-79182165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs183229909	chrX:79182197-79182198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375266638	chrX:79182224-79182225	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143529673	chrX:79182317-79182318	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs62598468	chrX:79182323-79182324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188506259	chrX:79182359-79182360	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139379591	chrX:79182381-79182382	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs193060240	chrX:79182432-79182433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201096481	chrX:79182434-79182435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184787027	chrX:79182450-79182451	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187622602	chrX:79182457-79182458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191324555	chrX:79182463-79182464	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs183471755	chrX:79182468-79182469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs195349	chrX:79182472-79182473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377514556	chrX:79182493-79182494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189447287	chrX:79182525-79182526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs377014057	chrX:79182528-79182529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144405598	chrX:79182580-79182581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181436900	chrX:79182589-79182590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs195348	chrX:79182616-79182617	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs195347	chrX:79182624-79182625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184823873	chrX:79182666-79182667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7060663	chrX:79182690-79182691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113292826	chrX:79182691-79182692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs195346	chrX:79182760-79182761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375991086	chrX:79182779-79182780	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377366675	chrX:79212209-79212210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs182917957	chrX:79212228-79212229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188767184	chrX:79212255-79212256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192845017	chrX:79212270-79212271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184114384	chrX:79212271-79212272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559448945	chrX:79212301-79212302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12557630	chrX:79212362-79212363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs12557632	chrX:79212368-79212369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565017137	chrX:79212369-79212370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs187569071	chrX:79212372-79212373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149060436	chrX:79212385-79212386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs530860653	chrX:79212399-79212400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs12558031	chrX:79212414-79212415	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs12559673	chrX:79212438-79212439	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12559531	chrX:79212506-79212507	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191295901	chrX:79212631-79212632	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs202129189	chrX:79212652-79212653	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs79969365	chrX:79212662-79212663	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs76229367	chrX:79212671-79212672	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs370663601	chrX:79212674-79212675	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs374756975	chrX:79212677-79212678	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:79182000-79182400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chrX:79182000-79182800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chrX:79182000-79182800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chrX:79182000-79182800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chrX:79182200-79182800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chrX:79182400-79182800	Active TSS	H9 Cell Line	embryonic stem cell
7	chrX:79212200-79212800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chrX:79212400-79212600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
9	chrX:79212600-79212800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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