Variant report

Variant	nsv497882
Chromosome Location	chrX:31537077-31619941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:31607664..31610419-chrX:31614245..31616179,2	K562	blood:
2	chrX:31589050..31591269-chrX:31593172..31595132,2	K562	blood:
3	chrX:31589050..31591269-chrX:31593172..31595132,2	K562	blood:
4	chrX:31607664..31610419-chrX:31614245..31616179,2	K562	blood:

Extended variants
information (count: 687 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374670730	chrX:31537097-31537098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192889891	chrX:31537134-31537135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12008795	chrX:31537178-31537179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139849571	chrX:31537227-31537228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183498029	chrX:31537253-31537254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188390038	chrX:31537293-31537294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193226704	chrX:31537564-31537565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370837217	chrX:31537647-31537648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375165722	chrX:31537695-31537696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111661910	chrX:31537713-31537714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188195211	chrX:31537738-31537739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72625587	chrX:31537939-31537940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143226602	chrX:31537965-31537966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191605597	chrX:31538054-31538055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184137442	chrX:31538067-31538068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147472280	chrX:31538070-31538071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs5927762	chrX:31538105-31538106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188507089	chrX:31538288-31538289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59798995	chrX:31538484-31538485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372942689	chrX:31538648-31538649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5972396	chrX:31538656-31538657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181279327	chrX:31538704-31538705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112480327	chrX:31538722-31538723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186850917	chrX:31538751-31538752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190040495	chrX:31538834-31538835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182329311	chrX:31538986-31538987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186386498	chrX:31539086-31539087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373420185	chrX:31539241-31539242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368741739	chrX:31539279-31539280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189710670	chrX:31539289-31539290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182341361	chrX:31539368-31539369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368582767	chrX:31539571-31539572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536721666	chrX:31539578-31539579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555468853	chrX:31539605-31539606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10126933	chrX:31539644-31539645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151227887	chrX:31539672-31539673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116679543	chrX:31539691-31539692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145464118	chrX:31539767-31539768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370074902	chrX:31539841-31539842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6631324	chrX:31539897-31539898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185117060	chrX:31539916-31539917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191239846	chrX:31539947-31539948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112381460	chrX:31539971-31539972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183099978	chrX:31540112-31540113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5927763	chrX:31540240-31540241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188528222	chrX:31540385-31540386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373139793	chrX:31540403-31540404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370698025	chrX:31540410-31540411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144993307	chrX:31540478-31540479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74769454	chrX:31540480-31540481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31535800-31542200	Weak transcription	Fetal Heart	heart
2	chrX:31540800-31543000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chrX:31541000-31542600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chrX:31541600-31541800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chrX:31542000-31542400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chrX:31542200-31543000	Enhancers	Fetal Heart	heart
7	chrX:31542400-31543000	Enhancers	Fetal Intestine Small	intestine
8	chrX:31543400-31543800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chrX:31544000-31544400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chrX:31545000-31547000	Enhancers	Liver	Liver
11	chrX:31545400-31546200	Enhancers	HUVEC	blood vessel
12	chrX:31545600-31547000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chrX:31546600-31547000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chrX:31547600-31548600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:31554400-31555200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chrX:31558600-31559000	Enhancers	Hela-S3	cervix
17	chrX:31558600-31559000	Enhancers	HUVEC	blood vessel
18	chrX:31559000-31560400	Weak transcription	Hela-S3	cervix
19	chrX:31559000-31563200	Weak transcription	HUVEC	blood vessel
20	chrX:31560200-31561000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chrX:31560400-31565400	Enhancers	Hela-S3	cervix
22	chrX:31562200-31564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chrX:31563200-31565400	Enhancers	HUVEC	blood vessel
24	chrX:31563200-31566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chrX:31563400-31566000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chrX:31563600-31564200	Enhancers	Muscle Satellite Cultured Cells	--
27	chrX:31563600-31565000	Enhancers	NH-A	brain
28	chrX:31563600-31565000	Enhancers	NHEK	skin
29	chrX:31563800-31564200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chrX:31563800-31564800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chrX:31563800-31564800	Enhancers	NHDF-Ad	bronchial
32	chrX:31563800-31565000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chrX:31563800-31565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chrX:31563800-31565000	Enhancers	HMEC	breast
35	chrX:31563800-31566200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chrX:31563800-31566200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chrX:31563800-31566400	Enhancers	HSMM	muscle
38	chrX:31563800-31566600	Enhancers	Osteobl	bone
39	chrX:31564000-31564200	Enhancers	Brain Angular Gyrus	brain
40	chrX:31564000-31564400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chrX:31564000-31564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chrX:31564200-31564600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chrX:31564200-31564600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chrX:31564200-31564800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chrX:31564200-31565000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chrX:31564400-31565000	Enhancers	H1 Cell Line	embryonic stem cell
47	chrX:31564400-31565000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chrX:31564400-31565000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chrX:31564400-31565800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chrX:31564600-31566400	Enhancers	Muscle Satellite Cultured Cells	--

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