Variant report

Variant	nsv481720
Chromosome Location	chrX:31751761-31816823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
2	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
3	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
4	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
5	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
6	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
7	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
8	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
9	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
10	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
11	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
12	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106638	chromatin interactions

Extended variants
information (count: 483 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376117245	chrX:31751805-31751806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184681933	chrX:31751809-31751810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188704646	chrX:31751973-31751974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12687049	chrX:31751996-31751997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112316301	chrX:31752008-31752009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192016477	chrX:31752058-31752059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373959279	chrX:31752098-31752099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184617921	chrX:31752147-31752148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139856305	chrX:31752195-31752196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189376773	chrX:31752265-31752266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201586876	chrX:31752332-31752333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547905261	chrX:31752341-31752342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2646301	chrX:31752343-31752344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185947452	chrX:31752345-31752346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189270998	chrX:31752360-31752361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180895785	chrX:31752388-31752389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56042758	chrX:31752745-31752746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566228134	chrX:31752857-31752858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2738306	chrX:31752869-31752870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs56326966	chrX:31753023-31753024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374616850	chrX:31753209-31753210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185340895	chrX:31753311-31753312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368401925	chrX:31753405-31753406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5971594	chrX:31753524-31753525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190202361	chrX:31753543-31753544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73459853	chrX:31753555-31753556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2646300	chrX:31753621-31753622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181470338	chrX:31753631-31753632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563677606	chrX:31753649-31753650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575366183	chrX:31753695-31753696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566724774	chrX:31753712-31753713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143755776	chrX:31753800-31753801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186007891	chrX:31753809-31753810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190846099	chrX:31753811-31753812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1497440	chrX:31753820-31753821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2738305	chrX:31753997-31753998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184230025	chrX:31754027-31754028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2738304	chrX:31754121-31754122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73210161	chrX:31754176-31754177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188774868	chrX:31754220-31754221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190863088	chrX:31754245-31754246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs5972441	chrX:31754252-31754253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182631037	chrX:31754253-31754254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141409425	chrX:31754326-31754327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150836325	chrX:31754341-31754342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187062922	chrX:31754440-31754441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34386934	chrX:31754442-31754443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191866573	chrX:31754496-31754497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184468791	chrX:31754536-31754537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372908975	chrX:31754556-31754557	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20531469	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31734400-31754400	Weak transcription	Liver	Liver
2	chrX:31754200-31754600	Enhancers	Hela-S3	cervix
3	chrX:31754400-31754600	Enhancers	Liver	Liver
4	chrX:31763200-31763400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chrX:31765000-31765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chrX:31765200-31765800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chrX:31765400-31766400	Enhancers	Fetal Brain Male	brain
8	chrX:31765400-31767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chrX:31765600-31766400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chrX:31765800-31766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chrX:31766400-31770800	Weak transcription	Fetal Brain Male	brain
12	chrX:31766800-31770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chrX:31769400-31770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chrX:31770200-31770800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chrX:31770200-31771000	Enhancers	Fetal Brain Female	brain
16	chrX:31770200-31771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chrX:31770400-31771800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chrX:31770600-31771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chrX:31770600-31771000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chrX:31770600-31771200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chrX:31770600-31771400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chrX:31770600-31772000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chrX:31770800-31771000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chrX:31770800-31771200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chrX:31770800-31771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chrX:31770800-31771400	Enhancers	Fetal Brain Male	brain
27	chrX:31771400-31774200	Weak transcription	Fetal Brain Male	brain
28	chrX:31771800-31772200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chrX:31772200-31773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chrX:31774200-31774400	Enhancers	Fetal Brain Male	brain
31	chrX:31774400-31774800	Bivalent Enhancer	Fetal Brain Male	brain
32	chrX:31774400-31774800	Enhancers	Fetal Heart	heart
33	chrX:31777800-31778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:31787400-31787800	Enhancers	HSMMtube	muscle
35	chrX:31789000-31797400	Weak transcription	Liver	Liver
36	chrX:31797400-31797600	Enhancers	Liver	Liver
37	chrX:31809400-31838800	Weak transcription	Aorta	Aorta
38	chrX:31810800-31811400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chrX:31815400-31817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chrX:31816000-31816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chrX:31816400-31816800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chrX:31816600-31816800	Enhancers	HSMMtube	muscle
43	chrX:31816800-31825200	Weak transcription	HSMMtube	muscle

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