Variant report

Variant	nsv481723
Chromosome Location	chrX:31762222-31837336
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:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
3	chrX:31787499..31789422-chrX:31789424..31791064,2	MCF-7	breast:
4	chrX:31823192..31826077-chrX:31864519..31866883,2	K562	blood:
5	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
6	chr7:72992366..72994261-chrX:31778080..31779580,2	MCF-7	breast:
7	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
8	chrX:31789896..31793490-chrX:31804091..31807456,3	K562	blood:
9	chrX:31788924..31791704-chrX:31792640..31795936,3	K562	blood:
10	chrX:31778356..31781336-chrX:31781568..31784358,2	K562	blood:
11	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
12	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106638	chromatin interactions

Extended variants
information (count: 745 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:745 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs881746	chrX:31763218-31763219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191139740	chrX:31763222-31763223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148040469	chrX:31765017-31765018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141658831	chrX:31765034-31765035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73210171	chrX:31765249-31765250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181628086	chrX:31765320-31765321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186327833	chrX:31765383-31765384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556053031	chrX:31765470-31765471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139537170	chrX:31765471-31765472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574136683	chrX:31765504-31765505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542692265	chrX:31765514-31765515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189554314	chrX:31765557-31765558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112348687	chrX:31765585-31765586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2710940	chrX:31765612-31765613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1474535	chrX:31765683-31765684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180791973	chrX:31765731-31765732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73210174	chrX:31765733-31765734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532746833	chrX:31765752-31765753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186098053	chrX:31765821-31765822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371385839	chrX:31765903-31765904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534933550	chrX:31766048-31766049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374605058	chrX:31766136-31766137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56678497	chrX:31766200-31766201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553153892	chrX:31766278-31766279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191396726	chrX:31766281-31766282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112134105	chrX:31766290-31766291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569254019	chrX:31766325-31766326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2047373	chrX:31766645-31766646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142945132	chrX:31766658-31766659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151062509	chrX:31766848-31766849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141312779	chrX:31766875-31766876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183224455	chrX:31766897-31766898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5927833	chrX:31766901-31766902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1040347	chrX:31766959-31766960	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371699222	chrX:31766992-31766993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140380662	chrX:31767007-31767008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150377607	chrX:31767102-31767103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138011731	chrX:31767134-31767135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199603439	chrX:31767151-31767152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186555311	chrX:31767186-31767187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190327788	chrX:31767240-31767241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34854553	chrX:31767254-31767255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202196355	chrX:31767256-31767257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35354717	chrX:31767258-31767259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143496860	chrX:31767264-31767265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182931845	chrX:31767268-31767269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60724705	chrX:31767272-31767273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187626246	chrX:31767306-31767307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192614808	chrX:31767323-31767324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182764757	chrX:31767326-31767327	Weak transcription	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31763200-31763400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chrX:31765000-31765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chrX:31765200-31765800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chrX:31765400-31766400	Enhancers	Fetal Brain Male	brain
5	chrX:31765400-31767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chrX:31765600-31766400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chrX:31765800-31766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chrX:31766400-31770800	Weak transcription	Fetal Brain Male	brain
9	chrX:31766800-31770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chrX:31769400-31770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chrX:31770200-31770800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chrX:31770200-31771000	Enhancers	Fetal Brain Female	brain
13	chrX:31770200-31771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chrX:31770400-31771800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:31770600-31771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:31770600-31771000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chrX:31770600-31771200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chrX:31770600-31771400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chrX:31770600-31772000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chrX:31770800-31771000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chrX:31770800-31771200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chrX:31770800-31771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chrX:31770800-31771400	Enhancers	Fetal Brain Male	brain
24	chrX:31771400-31774200	Weak transcription	Fetal Brain Male	brain
25	chrX:31771800-31772200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chrX:31772200-31773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chrX:31774200-31774400	Enhancers	Fetal Brain Male	brain
28	chrX:31774400-31774800	Bivalent Enhancer	Fetal Brain Male	brain
29	chrX:31774400-31774800	Enhancers	Fetal Heart	heart
30	chrX:31777800-31778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chrX:31787400-31787800	Enhancers	HSMMtube	muscle
32	chrX:31789000-31797400	Weak transcription	Liver	Liver
33	chrX:31797400-31797600	Enhancers	Liver	Liver
34	chrX:31809400-31838800	Weak transcription	Aorta	Aorta
35	chrX:31810800-31811400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chrX:31815400-31817000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chrX:31816000-31816800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chrX:31816400-31816800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chrX:31816600-31816800	Enhancers	HSMMtube	muscle
40	chrX:31816800-31825200	Weak transcription	HSMMtube	muscle
41	chrX:31823400-31826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chrX:31824000-31827000	Enhancers	Liver	Liver
43	chrX:31825800-31827000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chrX:31825800-31827200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chrX:31826200-31826400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chrX:31826200-31826800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chrX:31826200-31826800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chrX:31826200-31827000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chrX:31826200-31827000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chrX:31826400-31826800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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