Variant report

Variant	nsv526304
Chromosome Location	chrX:31259237-31281821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chrX:31256880..31259581-chrX:31282243..31284046,2	K562	blood:

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: 404 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5971561	chrX:31259237-31259238	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540902033	chrX:31259253-31259254	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184303155	chrX:31259259-31259260	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369958126	chrX:31259283-31259284	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188335019	chrX:31259294-31259295	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192848025	chrX:31259311-31259312	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185297624	chrX:31259331-31259332	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190228051	chrX:31259333-31259334	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182013334	chrX:31259341-31259342	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183546487	chrX:31259403-31259404	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs5972347	chrX:31259434-31259435	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577271479	chrX:31259456-31259457	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35005332	chrX:31259491-31259492	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188283403	chrX:31259518-31259519	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs5927002	chrX:31259532-31259533	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73210593	chrX:31259619-31259620	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140325432	chrX:31259645-31259646	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55887316	chrX:31259657-31259658	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5927712	chrX:31259670-31259671	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35442560	chrX:31259687-31259688	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111280986	chrX:31259690-31259691	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16989478	chrX:31259709-31259710	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142273266	chrX:31259726-31259727	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146069840	chrX:31259767-31259768	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12007695	chrX:31259808-31259809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185344958	chrX:31259919-31259920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530594082	chrX:31259943-31259944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191425164	chrX:31259949-31259950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569248070	chrX:31259950-31259951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149236157	chrX:31259959-31259960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181495077	chrX:31260139-31260140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144507091	chrX:31260153-31260154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536442287	chrX:31260168-31260169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148002156	chrX:31260208-31260209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72176984	chrX:31260380-31260381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187128989	chrX:31260491-31260492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79970534	chrX:31260579-31260580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374108444	chrX:31260609-31260610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191961096	chrX:31260616-31260617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546453574	chrX:31260698-31260699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373854758	chrX:31260760-31260761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141541034	chrX:31260790-31260791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13440663	chrX:31260814-31260815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531776381	chrX:31260818-31260819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3221024	chrX:31260850-31260851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60487278	chrX:31260852-31260853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12389886	chrX:31260881-31260882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs16989480	chrX:31260883-31260884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61357619	chrX:31260916-31260917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5927713	chrX:31260937-31260938	Weak transcription 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:125 , 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:31253800-31259800	Strong transcription	Hela-S3	cervix
8	chrX:31254000-31283200	Weak transcription	Fetal Intestine Small	intestine
9	chrX:31254200-31275200	Weak transcription	Liver	Liver
10	chrX:31257000-31260200	Weak transcription	Gastric	stomach
11	chrX:31257000-31282800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chrX:31257200-31262600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chrX:31258200-31259600	Enhancers	Primary B cells from cord blood	blood
14	chrX:31259200-31259800	Enhancers	Primary B cells from peripheral blood	blood
15	chrX:31259200-31259800	Active TSS	GM12878-XiMat	blood
16	chrX:31259800-31260800	Weak transcription	Hela-S3	cervix
17	chrX:31260200-31260400	Enhancers	Gastric	stomach
18	chrX:31260400-31263600	Weak transcription	Gastric	stomach
19	chrX:31260600-31266800	Weak transcription	Fetal Muscle Trunk	muscle
20	chrX:31260800-31269800	Strong transcription	Hela-S3	cervix
21	chrX:31262600-31262800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chrX:31263600-31264000	Enhancers	Gastric	stomach
23	chrX:31264000-31282200	Weak transcription	Fetal Muscle Leg	muscle
24	chrX:31264400-31264600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
25	chrX:31264400-31268400	Weak transcription	HMEC	breast
26	chrX:31264600-31265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chrX:31264600-31268600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chrX:31264600-31279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chrX:31264800-31282400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chrX:31268400-31268800	Enhancers	HMEC	breast
31	chrX:31268800-31278400	Weak transcription	HMEC	breast
32	chrX:31269800-31270000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chrX:31269800-31270000	Genic enhancers	Hela-S3	cervix
34	chrX:31270000-31273200	Weak transcription	Hela-S3	cervix
35	chrX:31270000-31280800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chrX:31271600-31271800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chrX:31271800-31272200	Enhancers	Brain Angular Gyrus	brain
38	chrX:31271800-31279600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chrX:31271800-31280000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chrX:31272200-31272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chrX:31272200-31280800	Weak transcription	Brain Angular Gyrus	brain
42	chrX:31272600-31272800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chrX:31272800-31284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chrX:31273200-31275600	Strong transcription	Hela-S3	cervix
45	chrX:31273600-31280200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chrX:31273600-31281000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chrX:31273800-31279800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chrX:31274400-31282400	Weak transcription	Ovary	ovary
49	chrX:31274400-31283600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chrX:31275200-31276400	Strong transcription	Liver	Liver

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