Variant report

Variant	nsv882385
Chromosome Location	chr5:93589609-93697852
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:93662792..93664355-chr8:144946755..144948647,2	MCF-7	breast:
2	chr5:93687905..93690477-chr5:93693837..93696347,2	K562	blood:
3	chr5:93693342..93695465-chr5:93695922..93698858,2	MCF-7	breast:
4	chr5:93693342..93695465-chr5:93695922..93698858,2	MCF-7	breast:
5	chr5:93584045..93586724-chr5:93587407..93590211,2	MCF-7	breast:
6	chr5:93690372..93692897-chr5:93696363..93699335,3	MCF-7	breast:
7	chr5:93690372..93692897-chr5:93696363..93699335,3	MCF-7	breast:
8	chr5:93600405..93603277-chr5:93604813..93606795,2	K562	blood:
9	chr5:93687905..93690477-chr5:93693837..93696347,2	K562	blood:
10	chr5:93600405..93603277-chr5:93604813..93606795,2	K562	blood:
11	chr5:93581521..93584447-chr5:93588432..93591299,2	K562	blood:

(count:4 , 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_-
3	lnc-FAM172A-9	chr5:93601603-93601810	uc_171_-
4	lnc-ANKRD32-9	chr5:93601603-93601810	uc_171_+

No data

Extended variants
information (count: 3126 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3126 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1841298	chr5:93589609-93589610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574581799	chr5:93589617-93589618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543202753	chr5:93589636-93589637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374299727	chr5:93589674-93589675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79614925	chr5:93589705-93589706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191590901	chr5:93589706-93589707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564936302	chr5:93589737-93589738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543865291	chr5:93589800-93589801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200983328	chr5:93589805-93589806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183745694	chr5:93589847-93589848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17083496	chr5:93589932-93589933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561376426	chr5:93589977-93589978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530338395	chr5:93589997-93589998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371731359	chr5:93590039-93590040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550073205	chr5:93590080-93590081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116566016	chr5:93590087-93590088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189243935	chr5:93590095-93590096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4546363	chr5:93590096-93590097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs202024676	chr5:93590141-93590142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565669401	chr5:93590198-93590199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2881301	chr5:93590268-93590269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553734690	chr5:93590354-93590355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116242143	chr5:93590376-93590377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111324728	chr5:93590482-93590483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373983366	chr5:93590483-93590484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180790703	chr5:93590569-93590570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367796852	chr5:93590612-93590613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118058377	chr5:93590613-93590614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73773600	chr5:93590641-93590642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576178402	chr5:93590701-93590702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545093240	chr5:93590714-93590715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187197699	chr5:93590797-93590798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190482386	chr5:93590829-93590830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78364329	chr5:93590833-93590834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540999697	chr5:93590897-93590898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs137887472	chr5:93590935-93590936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530314600	chr5:93590972-93590973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369961898	chr5:93590978-93590979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544021904	chr5:93591016-93591017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576367258	chr5:93591017-93591018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12513531	chr5:93591038-93591039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2125887	chr5:93591079-93591080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181722474	chr5:93591138-93591139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528323997	chr5:93591141-93591142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186074376	chr5:93591198-93591199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6881074	chr5:93591275-93591276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190344640	chr5:93591301-93591302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17377080	chr5:93591302-93591303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536945602	chr5:93591395-93591396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57646287	chr5:93591413-93591414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr5:93587800-93589800	Enhancers	Fetal Brain Male	brain
9	chr5:93587800-93589800	Enhancers	Fetal Brain Female	brain
10	chr5:93588000-93592400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:93588600-93590200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:93589200-93590000	Enhancers	Fetal Intestine Large	intestine
13	chr5:93592400-93592600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:93592400-93593200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:93592600-93599600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:93594800-93595200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:93595000-93595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:93595400-93595800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:93595800-93596000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:93595800-93596400	Enhancers	Brain Germinal Matrix	brain
21	chr5:93598400-93599400	Enhancers	GM12878-XiMat	blood
22	chr5:93598600-93606000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:93599600-93600400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:93599800-93600200	Enhancers	Stomach Mucosa	stomach
25	chr5:93600200-93602200	Weak transcription	Stomach Mucosa	stomach
26	chr5:93600200-93617200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:93600400-93601600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:93601600-93602000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:93601600-93602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:93601600-93603000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:93601600-93603400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:93601600-93605000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:93601800-93602200	Enhancers	Osteobl	bone
34	chr5:93601800-93602400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:93602200-93603600	Enhancers	Stomach Mucosa	stomach
36	chr5:93602600-93604600	Enhancers	Thymus	Thymus
37	chr5:93602600-93605200	Enhancers	Dnd41	blood
38	chr5:93602800-93604800	Enhancers	Fetal Thymus	thymus
39	chr5:93603400-93604400	Enhancers	Brain Germinal Matrix	brain
40	chr5:93603600-93617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:93604000-93604400	Enhancers	Fetal Muscle Leg	muscle
42	chr5:93605000-93617000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:93605600-93606400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:93605800-93606400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:93606000-93606400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr5:93606400-93611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:93606400-93617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:93611200-93612000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:93611400-93612400	Genic enhancers	Hela-S3	cervix
50	chr5:93611600-93612200	Enhancers	Fetal Intestine Small	intestine

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