Variant report

Variant	nsv823134
Chromosome Location	chr5:93593894-93664537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:93600405..93603277-chr5:93604813..93606795,2	K562	blood:
2	chr5:93662792..93664355-chr8:144946755..144948647,2	MCF-7	breast:
3	chr5:93600405..93603277-chr5:93604813..93606795,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM172A-9	chr5:93601603-93601810	uc_171_-
2	lnc-ANKRD32-9	chr5:93601603-93601810	uc_171_+

Extended variants
information (count: 1950 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1950 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72771633	chr5:93593983-93593984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530731019	chr5:93593986-93593987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77495849	chr5:93594011-93594012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10463185	chr5:93594041-93594042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10463186	chr5:93594171-93594172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192366309	chr5:93594208-93594209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570869400	chr5:93594240-93594241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539799010	chr5:93594349-93594350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147233327	chr5:93594364-93594365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184426871	chr5:93594425-93594426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535704745	chr5:93594558-93594559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555907183	chr5:93594588-93594589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144892257	chr5:93594687-93594688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572074023	chr5:93594761-93594762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543895972	chr5:93594796-93594797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546559484	chr5:93594822-93594823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566471676	chr5:93594855-93594856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569348145	chr5:93594956-93594957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557389469	chr5:93595036-93595037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577221328	chr5:93595067-93595068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539812881	chr5:93595102-93595103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560202238	chr5:93595167-93595168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190566823	chr5:93595239-93595240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536255428	chr5:93595241-93595242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542482797	chr5:93595257-93595258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538707567	chr5:93595274-93595275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10463161	chr5:93595287-93595288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531494861	chr5:93595309-93595310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551100974	chr5:93595374-93595375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181841233	chr5:93595386-93595387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571826947	chr5:93595449-93595450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576248480	chr5:93595491-93595492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186218555	chr5:93595507-93595508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537740275	chr5:93595580-93595581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546957130	chr5:93595609-93595610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543735495	chr5:93595640-93595641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189132439	chr5:93595720-93595721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181512427	chr5:93595786-93595787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557730465	chr5:93595817-93595818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186354317	chr5:93595835-93595836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569442935	chr5:93595955-93595956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191259214	chr5:93595962-93595963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557453188	chr5:93595980-93595981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577285123	chr5:93595994-93595995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147532084	chr5:93596000-93596001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181071998	chr5:93596110-93596111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186001804	chr5:93596152-93596153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74698825	chr5:93596277-93596278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562595791	chr5:93596354-93596355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576328434	chr5:93596362-93596363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93568000-93617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:93578000-93611400	Weak transcription	Hela-S3	cervix
3	chr5:93579600-93617200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:93587200-93605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:93587200-93616400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:93587200-93617200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:93587400-93617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:93592600-93599600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:93594800-93595200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:93595000-93595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:93595400-93595800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:93595800-93596000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:93595800-93596400	Enhancers	Brain Germinal Matrix	brain
14	chr5:93598400-93599400	Enhancers	GM12878-XiMat	blood
15	chr5:93598600-93606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:93599600-93600400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:93599800-93600200	Enhancers	Stomach Mucosa	stomach
18	chr5:93600200-93602200	Weak transcription	Stomach Mucosa	stomach
19	chr5:93600200-93617200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:93600400-93601600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:93601600-93602000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:93601600-93602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:93601600-93603000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:93601600-93603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:93601600-93605000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:93601800-93602200	Enhancers	Osteobl	bone
27	chr5:93601800-93602400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:93602200-93603600	Enhancers	Stomach Mucosa	stomach
29	chr5:93602600-93604600	Enhancers	Thymus	Thymus
30	chr5:93602600-93605200	Enhancers	Dnd41	blood
31	chr5:93602800-93604800	Enhancers	Fetal Thymus	thymus
32	chr5:93603400-93604400	Enhancers	Brain Germinal Matrix	brain
33	chr5:93603600-93617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:93604000-93604400	Enhancers	Fetal Muscle Leg	muscle
35	chr5:93605000-93617000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:93605600-93606400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:93605800-93606400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:93606000-93606400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr5:93606400-93611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:93606400-93617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:93611200-93612000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:93611400-93612400	Genic enhancers	Hela-S3	cervix
43	chr5:93611600-93612200	Enhancers	Fetal Intestine Small	intestine
44	chr5:93611600-93612400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:93611600-93612800	Enhancers	Fetal Intestine Large	intestine
46	chr5:93612000-93612800	Enhancers	Liver	Liver
47	chr5:93612000-93617200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:93612400-93612800	Enhancers	Adipose Nuclei	Adipose
49	chr5:93612400-93613000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:93612400-93613000	Enhancers	Hela-S3	cervix

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