Variant report

Variant	nsv523867
Chromosome Location	chr5:93643170-93789309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93690372..93692897-chr5:93696363..93699335,3	MCF-7	breast:
2	chr5:93693342..93695465-chr5:93695922..93698858,2	MCF-7	breast:
3	chr5:93662792..93664355-chr8:144946755..144948647,2	MCF-7	breast:
4	chr5:93700754..93703730-chr5:93710260..93713208,2	MCF-7	breast:
5	chr5:93767882..93769641-chr5:93772903..93774904,2	MCF-7	breast:
6	chr5:93687905..93690477-chr5:93693837..93696347,2	K562	blood:
7	chr5:93687905..93690477-chr5:93693837..93696347,2	K562	blood:
8	chr5:93690372..93692897-chr5:93696363..93699335,3	MCF-7	breast:
9	chr5:93767882..93769641-chr5:93772903..93774904,2	MCF-7	breast:
10	chr5:93700754..93703730-chr5:93710260..93713208,2	MCF-7	breast:
11	chr5:93693342..93695465-chr5:93695922..93698858,2	MCF-7	breast:
12	chr5:93781108..93783534-chr5:93793352..93795915,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD32-8	chr5:93676475-93676692	uc_172_+
2	lnc-FAM172A-11	chr5:93676475-93676692	uc_172_-

No data

Extended variants
information (count: 4370 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4370 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10491400	chr5:93643170-93643171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545866407	chr5:93643215-93643216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147320789	chr5:93643236-93643237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530362038	chr5:93643250-93643251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570409627	chr5:93643260-93643261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550409662	chr5:93643275-93643276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577206972	chr5:93643282-93643283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570201266	chr5:93643330-93643331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141068045	chr5:93643347-93643348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371337558	chr5:93643380-93643381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552231728	chr5:93643434-93643435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17489155	chr5:93643441-93643442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534313984	chr5:93643443-93643444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142399458	chr5:93643491-93643492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368853843	chr5:93643501-93643502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181926494	chr5:93643553-93643554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556900286	chr5:93643575-93643576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576935166	chr5:93643591-93643592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17083564	chr5:93643616-93643617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565358742	chr5:93643645-93643646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572520989	chr5:93643667-93643668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541428685	chr5:93643701-93643702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561228400	chr5:93643740-93643741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200778454	chr5:93643778-93643779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530423085	chr5:93643828-93643829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187087082	chr5:93643831-93643832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17083566	chr5:93643832-93643833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532715624	chr5:93643880-93643881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552030435	chr5:93643925-93643926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532912741	chr5:93643947-93643948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534373921	chr5:93644049-93644050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549898355	chr5:93644071-93644072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60416738	chr5:93644126-93644127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567980887	chr5:93644134-93644135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567690564	chr5:93644150-93644151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373512694	chr5:93644264-93644265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530301962	chr5:93644306-93644307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536965672	chr5:93644317-93644318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76660345	chr5:93644335-93644336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76457322	chr5:93644340-93644341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576993581	chr5:93644387-93644388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539618868	chr5:93644394-93644395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151302984	chr5:93644455-93644456	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191894188	chr5:93644467-93644468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537891078	chr5:93644515-93644516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75759306	chr5:93644538-93644539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143865940	chr5:93644566-93644567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183289365	chr5:93644576-93644577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139491596	chr5:93644583-93644584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574867313	chr5:93644636-93644637	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93629000-93673600	Weak transcription	Hela-S3	cervix
2	chr5:93632600-93654800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:93634600-93649000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:93634800-93644400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:93634800-93649600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:93634800-93651600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:93635000-93649600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:93636800-93649600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:93638200-93645000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:93638800-93644000	Weak transcription	Fetal Lung	lung
11	chr5:93640200-93650800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:93640400-93645000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:93642600-93643200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:93642800-93645200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:93643200-93643600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:93643600-93654400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:93644000-93646000	Enhancers	Fetal Lung	lung
18	chr5:93644000-93675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:93644400-93644600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:93644400-93646000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:93644600-93644800	Enhancers	Brain Hippocampus Middle	brain
22	chr5:93645000-93645400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:93645000-93645600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr5:93645000-93649400	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:93645200-93645400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:93645200-93645400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:93645400-93646200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:93645400-93647600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:93645600-93654600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:93646000-93647200	Weak transcription	Fetal Lung	lung
31	chr5:93646000-93652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:93646200-93650400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:93646400-93650000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:93646800-93648000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:93647200-93647800	Enhancers	Fetal Lung	lung
36	chr5:93647600-93647800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:93647800-93648200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:93647800-93650400	Weak transcription	Fetal Lung	lung
39	chr5:93648000-93649400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:93648200-93648400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:93648400-93652600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:93649000-93649200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr5:93649200-93649600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:93649200-93650000	Enhancers	Brain Germinal Matrix	brain
45	chr5:93649200-93651200	Enhancers	Fetal Brain Male	brain
46	chr5:93649400-93650400	Enhancers	Brain Hippocampus Middle	brain
47	chr5:93649400-93650600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:93649600-93650000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr5:93649600-93650200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:93649600-93650200	Enhancers	Fetal Brain Female	brain

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