Variant report

Variant	nsv481712
Chromosome Location	chrX:31708958-31761167
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:

Extended variants
information (count: 389 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5927811	chrX:31720269-31720270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187081386	chrX:31720461-31720462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5927812	chrX:31720726-31720727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370223654	chrX:31720748-31720749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144938567	chrX:31724846-31724847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187247517	chrX:31724890-31724891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548335907	chrX:31724908-31724909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375799816	chrX:31725095-31725096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58902155	chrX:31725177-31725178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397768550	chrX:31725186-31725187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191123671	chrX:31725421-31725422	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs147921881	chrX:31725425-31725426	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs78644173	chrX:31725468-31725469	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs141752084	chrX:31725649-31725650	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs182192614	chrX:31725726-31725727	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs1540705	chrX:31725847-31725848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73457900	chrX:31725896-31725897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186926002	chrX:31725928-31725929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190219547	chrX:31726122-31726123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149172860	chrX:31726171-31726172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182849791	chrX:31726392-31726393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs5927814	chrX:31726486-31726487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5927815	chrX:31726491-31726492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112810402	chrX:31726657-31726658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201116203	chrX:31726724-31726725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372035236	chrX:31726731-31726732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552043395	chrX:31726781-31726782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141821246	chrX:31726782-31726783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182911175	chrX:31733833-31733834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187641598	chrX:31733900-31733901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568258702	chrX:31733968-31733969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs5927036	chrX:31733995-31733996	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145321805	chrX:31734175-31734176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371482575	chrX:31734298-31734299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs5927817	chrX:31734299-31734300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs28424590	chrX:31734433-31734434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28413145	chrX:31734464-31734465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28552538	chrX:31734473-31734474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199897264	chrX:31734696-31734697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147395224	chrX:31734742-31734743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535548330	chrX:31734767-31734768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2030005	chrX:31734778-31734779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187741533	chrX:31734803-31734804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192912753	chrX:31734850-31734851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200602355	chrX:31734865-31734866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79380877	chrX:31734870-31734871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3032283	chrX:31734871-31734872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201217458	chrX:31734872-31734873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34786293	chrX:31734943-31734944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72339097	chrX:31734944-31734945	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31720200-31720800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chrX:31720200-31720800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chrX:31724800-31726800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chrX:31725000-31725600	Enhancers	Fetal Heart	heart
5	chrX:31725200-31725800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chrX:31725200-31726200	Enhancers	Muscle Satellite Cultured Cells	--
7	chrX:31726000-31726600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chrX:31733800-31734400	ZNF genes & repeats	Liver	Liver
9	chrX:31734400-31754400	Weak transcription	Liver	Liver
10	chrX:31735400-31736400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chrX:31735400-31736600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chrX:31736400-31737400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chrX:31736600-31736800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chrX:31736600-31749800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chrX:31739000-31747000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chrX:31741600-31742200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chrX:31745200-31747000	Weak transcription	Stomach Smooth Muscle	stomach
18	chrX:31745200-31748600	Weak transcription	K562	blood
19	chrX:31745600-31745800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
20	chrX:31745800-31748200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chrX:31746200-31748400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chrX:31746200-31748800	Weak transcription	Aorta	Aorta
23	chrX:31747000-31747600	Strong transcription	Stomach Smooth Muscle	stomach
24	chrX:31747000-31747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chrX:31747600-31749200	Weak transcription	Stomach Smooth Muscle	stomach
26	chrX:31747800-31749400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chrX:31749800-31750200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chrX:31754200-31754600	Enhancers	Hela-S3	cervix
29	chrX:31754400-31754600	Enhancers	Liver	Liver

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