Variant report

Variant	nsv527992
Chromosome Location	chrX:29638278-29691517
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	chr1:37940088..37941001-chrX:29680329..29680874,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000163874	chromatin interactions

Extended variants
information (count: 616 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:616 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181144633	chrX:29640555-29640556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139796960	chrX:29644548-29644549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186956473	chrX:29644620-29644621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191747832	chrX:29644705-29644706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183984136	chrX:29644707-29644708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201777718	chrX:29644759-29644760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200083902	chrX:29644765-29644766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370668951	chrX:29644770-29644771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs36066191	chrX:29644971-29644972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150753547	chrX:29645454-29645455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189731253	chrX:29645475-29645476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182341856	chrX:29645504-29645505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373757922	chrX:29645518-29645519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139079631	chrX:29645567-29645568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186999134	chrX:29645618-29645619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532828958	chrX:29645693-29645694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4076956	chrX:29645714-29645715	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191777558	chrX:29645717-29645718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs370562296	chrX:29652225-29652226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs55868613	chrX:29652258-29652259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137856731	chrX:29652317-29652318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149489533	chrX:29652333-29652334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189239089	chrX:29652374-29652375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147175681	chrX:29652410-29652411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181887709	chrX:29652417-29652418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186532041	chrX:29652445-29652446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201276259	chrX:29652483-29652484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140378747	chrX:29652538-29652539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189738455	chrX:29652634-29652635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144043534	chrX:29652723-29652724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180923275	chrX:29652807-29652808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147296825	chrX:29652907-29652908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374174816	chrX:29652980-29652981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4829120	chrX:29652995-29652996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs199886444	chrX:29653285-29653286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142433245	chrX:29653372-29653373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562501306	chrX:29653434-29653435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186346085	chrX:29653444-29653445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191197780	chrX:29653551-29653552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372622118	chrX:29653587-29653588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183449015	chrX:29653606-29653607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151254599	chrX:29653638-29653639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139236590	chrX:29653886-29653887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187334351	chrX:29653910-29653911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199689857	chrX:29653913-29653914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546573708	chrX:29653926-29653927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190634240	chrX:29654021-29654022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183161695	chrX:29654022-29654023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368637751	chrX:29654089-29654090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74900829	chrX:29654195-29654196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	21364760	CNVD
Mental retardation	17406619	CNVD
Pancreatic cancer	17952125	CNVD
Mental retardation	20613765	CNVD
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:29640400-29640600	Enhancers	Fetal Kidney	kidney
2	chrX:29644400-29645000	Enhancers	GM12878-XiMat	blood
3	chrX:29645400-29645800	Active TSS	Liver	Liver
4	chrX:29652200-29652400	Enhancers	Brain Cingulate Gyrus	brain
5	chrX:29652400-29653800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chrX:29652400-29657800	Weak transcription	Brain Cingulate Gyrus	brain
7	chrX:29652600-29653000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chrX:29653800-29657800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chrX:29657800-29658600	Enhancers	Fetal Lung	lung
10	chrX:29657800-29658800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chrX:29657800-29659600	Enhancers	Brain Cingulate Gyrus	brain
12	chrX:29657800-29660000	Enhancers	Brain Hippocampus Middle	brain
13	chrX:29658000-29659400	Enhancers	Brain Substantia Nigra	brain
14	chrX:29658200-29658400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chrX:29658400-29666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chrX:29658600-29658800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chrX:29658800-29659600	Weak transcription	Fetal Lung	lung
18	chrX:29659400-29659600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chrX:29660200-29660600	Weak transcription	Fetal Lung	lung
20	chrX:29661200-29661400	Enhancers	Fetal Lung	lung
21	chrX:29662200-29670400	Weak transcription	NHLF	lung
22	chrX:29663800-29664000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
23	chrX:29666400-29666600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chrX:29669600-29671200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chrX:29669800-29671600	Enhancers	HMEC	breast
26	chrX:29669800-29672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chrX:29670200-29671400	Enhancers	NHEK	skin
28	chrX:29670400-29670800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chrX:29670400-29671000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chrX:29670400-29671000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chrX:29670400-29671000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chrX:29670400-29671000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chrX:29670400-29671000	Enhancers	HSMM	muscle
34	chrX:29670400-29671000	Enhancers	Osteobl	bone
35	chrX:29670400-29671200	Enhancers	Muscle Satellite Cultured Cells	--
36	chrX:29670400-29671400	Enhancers	NH-A	brain
37	chrX:29670400-29671600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chrX:29670400-29671600	Enhancers	Brain Angular Gyrus	brain
39	chrX:29670400-29671600	Enhancers	NHLF	lung
40	chrX:29670600-29671000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chrX:29670600-29671000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chrX:29670600-29671000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chrX:29670600-29671000	Enhancers	Brain Substantia Nigra	brain
44	chrX:29671000-29671400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chrX:29671000-29680000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chrX:29671200-29679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chrX:29677000-29679000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chrX:29677800-29678600	Active TSS	NHLF	lung
49	chrX:29678000-29678200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chrX:29678200-29678400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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