Variant report

Variant	nsv521510
Chromosome Location	chrX:31231672-31255002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:19276032..19276532-chrX:31231954..31232601,2	MCF-7	breast:
2	chrX:31237187..31239126-chrX:31240873..31243255,2	K562	blood:
3	chrX:31237187..31239126-chrX:31240873..31243255,2	K562	blood:
4	chrX:31231843..31232710-chrX:31311329..31312068,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTHL17-1	chrX:31241147-31241238	NONHSAT136581

Extended variants
information (count: 426 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:426 , 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	rs2141755	chrX:31231672-31231673	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62590134	chrX:31231726-31231727	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs5972336	chrX:31231967-31231968	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187015448	chrX:31232072-31232073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548162570	chrX:31232104-31232105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138720694	chrX:31232166-31232167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3032429	chrX:31232173-31232174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386824591	chrX:31232174-31232175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201274814	chrX:31232175-31232176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201678307	chrX:31232177-31232178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5926996	chrX:31232211-31232212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538932628	chrX:31232287-31232288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557250767	chrX:31232493-31232494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7885503	chrX:31232597-31232598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191002985	chrX:31232665-31232666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138965244	chrX:31232797-31232798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5927708	chrX:31232814-31232815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5972337	chrX:31232836-31232837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67299356	chrX:31232888-31232889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183557159	chrX:31233036-31233037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367709992	chrX:31233047-31233048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139085591	chrX:31233054-31233055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368565727	chrX:31233055-31233056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200918231	chrX:31233056-31233057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201521752	chrX:31233058-31233059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370500084	chrX:31233059-31233060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201419923	chrX:31233061-31233062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56157626	chrX:31233076-31233077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186706292	chrX:31233133-31233134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189711444	chrX:31233168-31233169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113280852	chrX:31233206-31233207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182936073	chrX:31233276-31233277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187790823	chrX:31233299-31233300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146943346	chrX:31233475-31233476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17283089	chrX:31233494-31233495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192929504	chrX:31233579-31233580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149448380	chrX:31233693-31233694	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7889559	chrX:31233769-31233770	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575409033	chrX:31233890-31233891	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148214120	chrX:31233956-31233957	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12690302	chrX:31234101-31234102	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16989447	chrX:31234120-31234121	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185122414	chrX:31234196-31234197	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34364626	chrX:31234274-31234275	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5926997	chrX:31234276-31234277	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187524347	chrX:31234356-31234357	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199583511	chrX:31234395-31234396	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192396472	chrX:31234403-31234404	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143900487	chrX:31234502-31234503	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568686734	chrX:31234624-31234625	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	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:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:31142000-31236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chrX:31214200-31240600	Weak transcription	Brain Angular Gyrus	brain
3	chrX:31215200-31250400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chrX:31216000-31248200	Weak transcription	Psoas Muscle	Psoas
5	chrX:31216600-31235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chrX:31218400-31238200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chrX:31218400-31250200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chrX:31219000-31239000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chrX:31219200-31250200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chrX:31219800-31240800	Weak transcription	Brain Hippocampus Middle	brain
11	chrX:31220000-31241800	Weak transcription	Pancreas	Pancrea
12	chrX:31220400-31234600	Weak transcription	Left Ventricle	heart
13	chrX:31220400-31234800	Weak transcription	Fetal Intestine Small	intestine
14	chrX:31221200-31240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chrX:31227800-31238400	Weak transcription	HepG2	liver
16	chrX:31227800-31239000	Weak transcription	Osteobl	bone
17	chrX:31228000-31253800	Weak transcription	Liver	Liver
18	chrX:31229600-31232200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chrX:31230000-31234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chrX:31230200-31232000	Genic enhancers	Hela-S3	cervix
21	chrX:31230400-31232200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chrX:31230600-31231800	Enhancers	HUVEC	blood vessel
23	chrX:31230600-31232000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chrX:31230600-31232200	Enhancers	HMEC	breast
25	chrX:31230800-31231800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chrX:31230800-31231800	Enhancers	NHEK	skin
27	chrX:31230800-31232800	Enhancers	Fetal Heart	heart
28	chrX:31231200-31231800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chrX:31231200-31231800	Enhancers	Right Ventricle	heart
30	chrX:31231200-31232000	Enhancers	Rectal Smooth Muscle	rectum
31	chrX:31231200-31232000	Enhancers	GM12878-XiMat	blood
32	chrX:31231200-31232800	Enhancers	HSMMtube	muscle
33	chrX:31231400-31231800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chrX:31231400-31231800	Bivalent Enhancer	Fetal Lung	lung
35	chrX:31231600-31231800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chrX:31231600-31232000	Enhancers	Colon Smooth Muscle	Colon
37	chrX:31231600-31232000	Enhancers	Stomach Smooth Muscle	stomach
38	chrX:31231600-31237200	Weak transcription	Fetal Muscle Leg	muscle
39	chrX:31231800-31232400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chrX:31231800-31235000	Weak transcription	Brain Substantia Nigra	brain
41	chrX:31231800-31235400	Weak transcription	HUVEC	blood vessel
42	chrX:31231800-31237000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chrX:31231800-31237200	Weak transcription	Right Ventricle	heart
44	chrX:31231800-31237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chrX:31232000-31232800	Enhancers	Hela-S3	cervix
46	chrX:31232000-31235000	Weak transcription	GM12878-XiMat	blood
47	chrX:31232200-31232400	Enhancers	Colon Smooth Muscle	Colon
48	chrX:31232200-31232600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chrX:31232200-31234800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chrX:31232200-31235000	Weak transcription	HMEC	breast

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