Variant report

Variant	nsv428120
Chromosome Location	chr5:102984660-103159394
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:102980869..102982874-chr5:102996512..102998702,2	K562	blood:
2	chr5:103143979..103144697-chr5:103514544..103515454,4	K562	blood:
3	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:
4	chr5:103019253..103022094-chr5:103024105..103026356,2	K562	blood:
5	chr5:103121756..103123783-chr5:103130878..103132420,2	K562	blood:
6	chr5:103079665..103081704-chr5:103159850..103162204,2	K562	blood:
7	chr5:103144212..103144806-chr5:103748305..103749025,2	MCF-7	breast:
8	chr5:103002743..103004517-chr5:103013509..103015347,2	K562	blood:
9	chr5:103008214..103010707-chr5:103013362..103015145,2	K562	blood:
10	chr5:102940725..102941290-chr5:103143888..103144620,2	K562	blood:
11	chr5:103008214..103010707-chr5:103013362..103015145,2	K562	blood:
12	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
13	chr5:103008462..103011276-chr5:103015415..103017549,2	K562	blood:
14	chr5:103002743..103004517-chr5:103013509..103015347,2	K562	blood:
15	chr5:102918013..102918536-chr5:103143976..103144840,2	MCF-7	breast:
16	chr5:103019253..103022094-chr5:103024105..103026356,2	K562	blood:
17	chr5:103124246..103125073-chr5:103143511..103144441,2	K562	blood:
18	chr5:103121756..103123783-chr5:103130878..103132420,2	K562	blood:
19	chr5:103082740..103085193-chr5:103090914..103092473,2	MCF-7	breast:
20	chr5:103124246..103125073-chr5:103143511..103144441,2	K562	blood:
21	chr5:103008462..103011276-chr5:103015415..103017549,2	K562	blood:
22	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
23	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:
24	chr5:103076756..103079448-chr5:103079911..103082424,2	K562	blood:
25	chr5:103014005..103016419-chr5:103036291..103038603,2	MCF-7	breast:
26	chr5:103078614..103081128-chr5:103127289..103130175,2	MCF-7	breast:

No data

Extended variants
information (count: 3401 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3401 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562380457	chr5:102984680-102984681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145884231	chr5:102984693-102984694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7710610	chr5:102984709-102984710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568337035	chr5:102984737-102984738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562528033	chr5:102984759-102984760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533804160	chr5:102984843-102984844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190396653	chr5:102984911-102984912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370391528	chr5:102984960-102984961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11242504	chr5:102985009-102985010	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78049263	chr5:102985079-102985080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182603605	chr5:102985108-102985109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143804530	chr5:102985112-102985113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576737561	chr5:102985150-102985151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529791372	chr5:102985161-102985162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185605416	chr5:102985174-102985175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551488506	chr5:102985176-102985177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555825524	chr5:102985205-102985206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572702890	chr5:102985232-102985233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567112988	chr5:102985279-102985280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541335978	chr5:102985282-102985283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189916767	chr5:102985303-102985304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138301748	chr5:102985310-102985311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545525141	chr5:102985341-102985342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376627398	chr5:102985345-102985346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368030206	chr5:102985366-102985367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531448359	chr5:102985372-102985373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182130832	chr5:102985395-102985396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534241767	chr5:102985476-102985477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542019110	chr5:102985496-102985497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143796178	chr5:102985509-102985510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188791972	chr5:102985529-102985530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371451046	chr5:102985565-102985566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549527790	chr5:102985570-102985571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547677674	chr5:102985589-102985590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17155627	chr5:102985590-102985591	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562945832	chr5:102985616-102985617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146650317	chr5:102985628-102985629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78673458	chr5:102985651-102985652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367768378	chr5:102985691-102985692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550344406	chr5:102985700-102985701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570124673	chr5:102985702-102985703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535533256	chr5:102985735-102985736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374979807	chr5:102985767-102985768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555950104	chr5:102985775-102985776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4145649	chr5:102985840-102985841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535362844	chr5:102985847-102985848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558011207	chr5:102985895-102985896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200423921	chr5:102985903-102985904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397794518	chr5:102985904-102985905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565674152	chr5:102985955-102985956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102980800-102985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:102981000-102985800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:102981200-102986000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:102981400-102985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:102982200-102985200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:102983800-102985000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:102983800-102985400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:102983800-102985800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:102984000-102985400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:102984000-102990400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:102984200-102985200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:102984200-102985600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:102984600-102985400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:102984600-102985400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:102985000-102985600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:102985000-102985800	Enhancers	HUVEC	blood vessel
17	chr5:102985200-102985400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr5:102985200-102985600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:102985200-102985800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:102985400-102985600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:102985400-102985600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:102985400-102985600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:102985400-102985600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:102985400-102985800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:102985600-102985800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:102985800-102988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:102985800-102990200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:102988800-102989200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:102989200-102990400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:102990000-102990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:102990200-102991000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:102990400-102990600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:102990600-102990800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:102997800-102999000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:103000800-103001600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:103001000-103004200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:103001600-103002000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:103001800-103003600	Enhancers	HUVEC	blood vessel
39	chr5:103002000-103003800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:103002200-103003200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:103002200-103003400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:103002200-103003400	Enhancers	Hela-S3	cervix
43	chr5:103002400-103002600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr5:103002600-103003200	Enhancers	NH-A	brain
45	chr5:103002600-103005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:103002800-103003000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:103002800-103003200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:103002800-103003200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:103002800-103003200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:103002800-103003200	Enhancers	Osteobl	bone

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