Variant report

Variant	nsv818026
Chromosome Location	chrX:58121424-58346672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:59628301..59629147-chrX:58339728..58340665,2	MCF-7	breast:

Extended variants
information (count: 1717 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1717 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371484941	chrX:58129070-58129071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4244107	chrX:58129089-58129090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs527543630	chrX:58129092-58129093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189008551	chrX:58129169-58129170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs191917109	chrX:58129177-58129178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs6611655	chrX:58129310-58129311	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145246479	chrX:58129311-58129312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs144134288	chrX:58129340-58129341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs184876080	chrX:58129350-58129351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189390047	chrX:58129377-58129378	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs180952171	chrX:58129382-58129383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12835090	chrX:58129420-58129421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6612892	chrX:58129495-58129496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367607404	chrX:58129504-58129505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375824082	chrX:58129554-58129555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370185059	chrX:58129868-58129869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73512316	chrX:58129966-58129967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs145504469	chrX:58130007-58130008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs56859213	chrX:58130024-58130025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73512317	chrX:58130067-58130068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557165543	chrX:58130156-58130157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201708056	chrX:58130185-58130186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575701346	chrX:58130264-58130265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4244108	chrX:58130397-58130398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs184174334	chrX:58130433-58130434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141384310	chrX:58130469-58130470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189419889	chrX:58130472-58130473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181822101	chrX:58130501-58130502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs186013746	chrX:58130537-58130538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190478738	chrX:58130638-58130639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181469739	chrX:58130672-58130673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs138936357	chrX:58130687-58130688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550781227	chrX:58130707-58130708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186588751	chrX:58130770-58130771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140505210	chrX:58130776-58130777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150437830	chrX:58130777-58130778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs73512320	chrX:58130779-58130780	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191036658	chrX:58130810-58130811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149573618	chrX:58130811-58130812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376017295	chrX:58130851-58130852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs147235208	chrX:58131001-58131002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs182932553	chrX:58131002-58131003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543204625	chrX:58131061-58131062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs536239449	chrX:58131080-58131081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs138208536	chrX:58131119-58131120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs367958903	chrX:58131126-58131127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187527805	chrX:58131130-58131131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs554494673	chrX:58131210-58131211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200479013	chrX:58131213-58131214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191169446	chrX:58131355-58131356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
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
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
Cancer	20164919	CNVD
Thyroid cancer	19087340	CNVD
lymphocytic leukemia	21291569	CNVD
Cervical cancer	21062161	CNVD
Follicular lymphoma	20505157	CNVD
primary effusion lymphomas	17116491	CNVD
Testicular germ cell tumor	18059402	CNVD
Testicular cancer	18059402	CNVD
Seminomas	18059402	CNVD
Ovarian cancer	19835627	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:58129000-58131600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chrX:58129800-58131400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chrX:58133600-58135000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chrX:58133600-58135000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chrX:58142000-58149800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chrX:58143200-58145400	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chrX:58148200-58148800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chrX:58167800-58168400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chrX:58170200-58170800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chrX:58170200-58171400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chrX:58171600-58173600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chrX:58172200-58173000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chrX:58213400-58216600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chrX:58237400-58237600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chrX:58237400-58238000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chrX:58238000-58238400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chrX:58238400-58238600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chrX:58238600-58239600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chrX:58239600-58241000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chrX:58239600-58241000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chrX:58241600-58242400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chrX:58250400-58251000	Active TSS	Fetal Heart	heart
23	chrX:58276600-58280000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chrX:58279400-58280200	Enhancers	Brain Hippocampus Middle	brain
25	chrX:58280200-58313600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chrX:58282400-58296600	ZNF genes & repeats	Fetal Stomach	stomach
27	chrX:58290800-58292200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chrX:58295000-58298000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chrX:58307400-58313200	ZNF genes & repeats	Fetal Stomach	stomach
30	chrX:58309600-58309800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
31	chrX:58314600-58315400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chrX:58315600-58318800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
33	chrX:58324800-58326800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chrX:58324800-58331200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chrX:58327800-58329800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chrX:58330200-58331400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chrX:58330400-58330800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chrX:58330600-58330800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chrX:58330600-58330800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chrX:58330600-58330800	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chrX:58330600-58330800	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chrX:58330600-58330800	ZNF genes & repeats	Left Ventricle	heart
43	chrX:58330600-58330800	ZNF genes & repeats	Ovary	ovary
44	chrX:58330600-58330800	ZNF genes & repeats	Psoas Muscle	Psoas
45	chrX:58330600-58330800	ZNF genes & repeats	Right Ventricle	heart
46	chrX:58330600-58330800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chrX:58330600-58330800	ZNF genes & repeats	A549	lung
48	chrX:58330600-58330800	ZNF genes & repeats	Dnd41	blood
49	chrX:58330600-58330800	ZNF genes & repeats	GM12878-XiMat	blood
50	chrX:58330600-58330800	ZNF genes & repeats	Hela-S3	cervix

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