Variant report

Variant	nsv481714
Chromosome Location	chrX:31740934-31771100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
2	chrX:31742627..31744241-chrX:31749463..31751678,2	K562	blood:
3	chrX:31693950..31696881-chrX:31751543..31754151,2	K562	blood:
4	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:
5	chrX:31764661..31766806-chrX:31768758..31770911,2	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79584338	chrX:31740979-31740980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77382125	chrX:31741094-31741095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142178216	chrX:31741119-31741120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374258558	chrX:31741186-31741187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181326737	chrX:31741209-31741210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185857651	chrX:31741214-31741215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111305331	chrX:31741227-31741228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191403483	chrX:31741372-31741373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150132742	chrX:31741394-31741395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201001072	chrX:31741397-31741398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11283293	chrX:31741405-31741406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7065457	chrX:31741469-31741470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73619007	chrX:31741674-31741675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182023695	chrX:31741727-31741728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55718177	chrX:31741786-31741787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62589510	chrX:31741909-31741910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76893880	chrX:31741975-31741976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187057370	chrX:31742021-31742022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376757544	chrX:31742111-31742112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555648042	chrX:31742200-31742201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17283259	chrX:31742246-31742247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113913239	chrX:31742361-31742362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4829231	chrX:31742454-31742455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376654915	chrX:31742583-31742584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4829232	chrX:31742612-31742613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs138378285	chrX:31742654-31742655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541485927	chrX:31742755-31742756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192397324	chrX:31742816-31742817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182180172	chrX:31742918-31742919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186918553	chrX:31742925-31742926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190196984	chrX:31743011-31743012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182829098	chrX:31743053-31743054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377524797	chrX:31743073-31743074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574200387	chrX:31743082-31743083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs766671	chrX:31743103-31743104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188274404	chrX:31743171-31743172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144361202	chrX:31743173-31743174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541502621	chrX:31743183-31743184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192822014	chrX:31743221-31743222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148737470	chrX:31743245-31743246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185341320	chrX:31743246-31743247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373804640	chrX:31743249-31743250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142359766	chrX:31743277-31743278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5972438	chrX:31743305-31743306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs7057439	chrX:31743320-31743321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs199929150	chrX:31743351-31743352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188659972	chrX:31743442-31743443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559855589	chrX:31743497-31743498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575784544	chrX:31743504-31743505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370555307	chrX:31743510-31743511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31734400-31754400	Weak transcription	Liver	Liver
2	chrX:31736600-31749800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chrX:31739000-31747000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chrX:31741600-31742200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chrX:31745200-31747000	Weak transcription	Stomach Smooth Muscle	stomach
6	chrX:31745200-31748600	Weak transcription	K562	blood
7	chrX:31745600-31745800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
8	chrX:31745800-31748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chrX:31746200-31748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chrX:31746200-31748800	Weak transcription	Aorta	Aorta
11	chrX:31747000-31747600	Strong transcription	Stomach Smooth Muscle	stomach
12	chrX:31747000-31747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chrX:31747600-31749200	Weak transcription	Stomach Smooth Muscle	stomach
14	chrX:31747800-31749400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:31749800-31750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chrX:31754200-31754600	Enhancers	Hela-S3	cervix
17	chrX:31754400-31754600	Enhancers	Liver	Liver
18	chrX:31763200-31763400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chrX:31765000-31765400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chrX:31765200-31765800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chrX:31765400-31766400	Enhancers	Fetal Brain Male	brain
22	chrX:31765400-31767000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chrX:31765600-31766400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chrX:31765800-31766800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chrX:31766400-31770800	Weak transcription	Fetal Brain Male	brain
26	chrX:31766800-31770800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chrX:31769400-31770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chrX:31770200-31770800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chrX:31770200-31771000	Enhancers	Fetal Brain Female	brain
30	chrX:31770200-31771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chrX:31770400-31771800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chrX:31770600-31771000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chrX:31770600-31771000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chrX:31770600-31771200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chrX:31770600-31771400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chrX:31770600-31772000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chrX:31770800-31771000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chrX:31770800-31771200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chrX:31770800-31771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chrX:31770800-31771400	Enhancers	Fetal Brain Male	brain

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