Variant report

Variant	nsv481710
Chromosome Location	chrX:31666807-31707680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
2	chrX:31679912..31681425-chrX:31683220..31684967,2	K562	blood:
3	chrX:31056385..31057531-chrX:31676225..31677578,5	MCF-7	breast:
4	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
5	chrX:30954183..30954687-chrX:31676252..31677226,2	MCF-7	breast:

Extended variants
information (count: 242 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186746966	chrX:31670719-31670720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12848049	chrX:31670742-31670743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532405522	chrX:31670823-31670824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145279210	chrX:31670824-31670825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375964748	chrX:31670846-31670847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191597808	chrX:31671034-31671035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151013197	chrX:31671059-31671060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182338374	chrX:31671354-31671355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187053831	chrX:31671375-31671376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12013256	chrX:31671389-31671390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113743650	chrX:31673003-31673004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186891912	chrX:31673043-31673044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191742355	chrX:31673049-31673050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145850756	chrX:31673252-31673253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184027355	chrX:31673304-31673305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5927028	chrX:31673476-31673477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186286726	chrX:31673501-31673502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5927791	chrX:31673506-31673507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191106341	chrX:31673507-31673508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7062771	chrX:31673618-31673619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73617094	chrX:31673619-31673620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374959789	chrX:31673698-31673699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143081727	chrX:31673762-31673763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113291073	chrX:31673851-31673852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554330434	chrX:31673912-31673913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369804026	chrX:31673950-31673951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139831037	chrX:31674000-31674001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368939060	chrX:31674078-31674079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372654856	chrX:31674145-31674146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs5927792	chrX:31674162-31674163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182174916	chrX:31674297-31674298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548744295	chrX:31674327-31674328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369983051	chrX:31674422-31674423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111814654	chrX:31674492-31674493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16989761	chrX:31674573-31674574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56770195	chrX:31674591-31674592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183194222	chrX:31674597-31674598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556415734	chrX:31674912-31674913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144253528	chrX:31674946-31674947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs16989767	chrX:31674988-31674989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577255224	chrX:31675247-31675248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188647676	chrX:31675273-31675274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7052206	chrX:31675377-31675378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73455970	chrX:31675388-31675389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192811591	chrX:31675475-31675476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184367975	chrX:31675573-31675574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187603687	chrX:31675597-31675598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574767391	chrX:31675601-31675602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192586772	chrX:31675658-31675659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183547864	chrX:31675711-31675712	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31670600-31671200	Enhancers	Fetal Intestine Large	intestine
2	chrX:31670800-31671400	Enhancers	Liver	Liver
3	chrX:31671000-31671400	Enhancers	Fetal Intestine Small	intestine
4	chrX:31673000-31679600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chrX:31674000-31674400	Enhancers	Hela-S3	cervix
6	chrX:31674400-31676200	Weak transcription	Hela-S3	cervix
7	chrX:31676200-31676400	Enhancers	Hela-S3	cervix
8	chrX:31678200-31679800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chrX:31678400-31679800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chrX:31679400-31680000	Enhancers	Fetal Heart	heart
11	chrX:31679600-31679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:31679600-31679800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chrX:31679800-31680000	Bivalent Enhancer	Fetal Brain Male	brain
14	chrX:31679800-31681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chrX:31680800-31681400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chrX:31681000-31681400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chrX:31681400-31682800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chrX:31682200-31682600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chrX:31682200-31683200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chrX:31682800-31683000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chrX:31682800-31683200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chrX:31688000-31689000	Enhancers	HUVEC	blood vessel
23	chrX:31689600-31690600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chrX:31690600-31692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chrX:31692200-31693000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chrX:31692200-31693400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chrX:31692200-31693400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chrX:31692400-31693000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:31698200-31698600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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