Variant report

Variant	nsv523957
Chromosome Location	chrX:31260937-31281821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTHL17-1	chrX:31279073-31279133	NONHSAT136581
2	lnc-GK-4	chrX:31279225-31279846	ENSG00000242286.1

Extended variants
information (count: 355 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:355 , 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	rs5927713	chrX:31260937-31260938	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189725761	chrX:31260963-31260964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554816763	chrX:31261098-31261099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182372196	chrX:31261129-31261130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187800063	chrX:31261136-31261137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35474545	chrX:31261172-31261173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192933571	chrX:31261196-31261197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183403500	chrX:31261232-31261233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77305791	chrX:31261339-31261340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188767028	chrX:31261396-31261397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192429387	chrX:31261516-31261517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5972348	chrX:31261532-31261533	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184573773	chrX:31261688-31261689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368606802	chrX:31261708-31261709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189409326	chrX:31261758-31261759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146142607	chrX:31261768-31261769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536474782	chrX:31261774-31261775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555166890	chrX:31261806-31261807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139702278	chrX:31261813-31261814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149765341	chrX:31261926-31261927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549009059	chrX:31261930-31261931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372866465	chrX:31262085-31262086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200746857	chrX:31262086-31262087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72194725	chrX:31262089-31262090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34367081	chrX:31262218-31262219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10521965	chrX:31262364-31262365	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11796940	chrX:31262385-31262386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148531168	chrX:31262405-31262406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191086627	chrX:31262489-31262490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377146806	chrX:31262532-31262533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376019920	chrX:31262557-31262558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145269720	chrX:31262649-31262650	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5972349	chrX:31262715-31262716	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573393350	chrX:31263020-31263021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184502369	chrX:31263059-31263060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs5971562	chrX:31263106-31263107	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189523112	chrX:31263116-31263117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181587284	chrX:31263125-31263126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186672372	chrX:31263162-31263163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4382625	chrX:31263197-31263198	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375201285	chrX:31263238-31263239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189213908	chrX:31263281-31263282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181658449	chrX:31263282-31263283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186356412	chrX:31263303-31263304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191049150	chrX:31263410-31263411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182125253	chrX:31263428-31263429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140121556	chrX:31263431-31263432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11095203	chrX:31263617-31263618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186250370	chrX:31263620-31263621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1882262	chrX:31263648-31263649	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Disorders of sex development	22290220	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Gastric adenocarcinoma	19115996	CNVD
Duchenne-like muscular dystrophy	22470819	CNVD
Muscular dystrophy	22470819	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Duchenne and Becker muscular dystrophies	18663755	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31235000-31282000	Weak transcription	Left Ventricle	heart
2	chrX:31243200-31281800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chrX:31245200-31282000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chrX:31245400-31284000	Weak transcription	HSMMtube	muscle
5	chrX:31245600-31279800	Weak transcription	HepG2	liver
6	chrX:31247000-31280200	Weak transcription	Pancreas	Pancrea
7	chrX:31254000-31283200	Weak transcription	Fetal Intestine Small	intestine
8	chrX:31254200-31275200	Weak transcription	Liver	Liver
9	chrX:31257000-31282800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chrX:31257200-31262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chrX:31260400-31263600	Weak transcription	Gastric	stomach
12	chrX:31260600-31266800	Weak transcription	Fetal Muscle Trunk	muscle
13	chrX:31260800-31269800	Strong transcription	Hela-S3	cervix
14	chrX:31262600-31262800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chrX:31263600-31264000	Enhancers	Gastric	stomach
16	chrX:31264000-31282200	Weak transcription	Fetal Muscle Leg	muscle
17	chrX:31264400-31264600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chrX:31264400-31268400	Weak transcription	HMEC	breast
19	chrX:31264600-31265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chrX:31264600-31268600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chrX:31264600-31279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chrX:31264800-31282400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chrX:31268400-31268800	Enhancers	HMEC	breast
24	chrX:31268800-31278400	Weak transcription	HMEC	breast
25	chrX:31269800-31270000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chrX:31269800-31270000	Genic enhancers	Hela-S3	cervix
27	chrX:31270000-31273200	Weak transcription	Hela-S3	cervix
28	chrX:31270000-31280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chrX:31271600-31271800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chrX:31271800-31272200	Enhancers	Brain Angular Gyrus	brain
31	chrX:31271800-31279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chrX:31271800-31280000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chrX:31272200-31272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chrX:31272200-31280800	Weak transcription	Brain Angular Gyrus	brain
35	chrX:31272600-31272800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chrX:31272800-31284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chrX:31273200-31275600	Strong transcription	Hela-S3	cervix
38	chrX:31273600-31280200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chrX:31273600-31281000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chrX:31273800-31279800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chrX:31274400-31282400	Weak transcription	Ovary	ovary
42	chrX:31274400-31283600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chrX:31275200-31276400	Strong transcription	Liver	Liver
44	chrX:31275600-31276200	Weak transcription	Hela-S3	cervix
45	chrX:31275800-31280800	Weak transcription	GM12878-XiMat	blood
46	chrX:31276200-31276600	Enhancers	Hela-S3	cervix
47	chrX:31276200-31276600	Enhancers	HUVEC	blood vessel
48	chrX:31276200-31276600	Enhancers	NHEK	skin
49	chrX:31276200-31276800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chrX:31276400-31276600	Enhancers	Brain Inferior Temporal Lobe	brain

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