Variant report

Variant	esv1845980
Chromosome Location	chr5:60481408-60511495
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60510067..60512878-chr5:60631211..60633924,2	K562	blood:
2	chr5:60473979..60476884-chr5:60480404..60482643,2	MCF-7	breast:
3	chr5:60483051..60485415-chr5:60488357..60490268,2	K562	blood:
4	chr5:60457245..60459740-chr5:60479861..60481487,2	K562	blood:
5	chr5:60463482..60466191-chr5:60507654..60510350,2	MCF-7	breast:
6	chr5:60507517..60509890-chr5:60512104..60513883,2	K562	blood:
7	chr5:60483051..60485415-chr5:60488357..60490268,2	K562	blood:
8	chr5:60475085..60478138-chr5:60478979..60482831,4	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf43-1	chr5:60497136-60497531	ENSG00000249279.1
2	lnc-NDUFAF2-5	chr5:60494164-60494548	l_2926_chr5:60494163-60513754_testes
3	lnc-NDUFAF2-4	chr5:60489759-60489850	NONHSAT101662
4	lnc-NDUFAF2-5	chr5:60511321-60511398	l_2926_chr5:60494163-60513754_testes
5	lnc-NDUFAF2-4	chr5:60487377-60487523	NONHSAT101662

No data

Variant related genes	Relation type
ENSG00000251279	chromatin interactions
ENSG00000188725	chromatin interactions

Extended variants
information (count: 532 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34609	chr5:60481408-60481409	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193013381	chr5:60481419-60481420	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540310961	chr5:60481421-60481422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532480191	chr5:60481457-60481458	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185361782	chr5:60481502-60481503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75966054	chr5:60481524-60481525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11741431	chr5:60481603-60481604	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189841408	chr5:60481640-60481641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151105723	chr5:60481674-60481675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550838271	chr5:60481735-60481736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181479879	chr5:60481764-60481765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141045521	chr5:60481765-60481766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547325801	chr5:60481782-60481783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374315254	chr5:60481834-60481835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114681551	chr5:60481842-60481843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184085488	chr5:60481845-60481846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549424114	chr5:60481866-60481867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567488170	chr5:60481907-60481908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569747048	chr5:60481924-60481925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376080961	chr5:60481970-60481971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150257230	chr5:60481986-60481987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77696588	chr5:60481991-60481992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566176307	chr5:60482004-60482005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535327640	chr5:60482079-60482080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555349369	chr5:60482092-60482093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs256376	chr5:60482104-60482105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs114050241	chr5:60482186-60482187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188529256	chr5:60482187-60482188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138886955	chr5:60482203-60482204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546013047	chr5:60482269-60482270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565078916	chr5:60482280-60482281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148963764	chr5:60482292-60482293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563053711	chr5:60482301-60482302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1559081	chr5:60482313-60482314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372719539	chr5:60482328-60482329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73759491	chr5:60482350-60482351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560857631	chr5:60482377-60482378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529606886	chr5:60482438-60482439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180995909	chr5:60482446-60482447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147056215	chr5:60482464-60482465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138314184	chr5:60482475-60482476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552026315	chr5:60482509-60482510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143797958	chr5:60482577-60482578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147432948	chr5:60482578-60482579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555263316	chr5:60482618-60482619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565807500	chr5:60482628-60482629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539531098	chr5:60482685-60482686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10052753	chr5:60482695-60482696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs368208744	chr5:60482718-60482719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537417154	chr5:60482775-60482776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
2	chr5:60477200-60483800	Weak transcription	Right Atrium	heart
3	chr5:60480800-60483200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:60481000-60484200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:60482600-60482800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:60482600-60483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:60482600-60483200	Enhancers	Left Ventricle	heart
8	chr5:60482600-60483400	Enhancers	Fetal Heart	heart
9	chr5:60483000-60484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:60483200-60483600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:60483200-60483600	Weak transcription	Left Ventricle	heart
12	chr5:60483200-60484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:60483200-60484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:60483200-60484400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:60483200-60484400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:60483400-60483600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:60483400-60484000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:60483400-60484200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:60483400-60484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:60483600-60484200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:60483600-60484200	Enhancers	Left Ventricle	heart
22	chr5:60483800-60484200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:60483800-60484200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:60483800-60484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:60483800-60484200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:60483800-60484800	Enhancers	Right Atrium	heart
27	chr5:60484000-60484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:60484200-60484400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:60484200-60486600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:60484200-60486600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:60486600-60487400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:60486800-60487000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:60487000-60487200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:60495800-60496600	Weak transcription	Esophagus	oesophagus
35	chr5:60496000-60496600	Enhancers	Osteobl	bone
36	chr5:60496000-60496800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:60496000-60496800	Enhancers	GM12878-XiMat	blood
38	chr5:60496000-60499000	Enhancers	HSMM	muscle
39	chr5:60496200-60496800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:60496200-60497000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:60496200-60497000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:60496200-60497000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:60496200-60497800	Enhancers	NHDF-Ad	bronchial
44	chr5:60496400-60496800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:60496400-60496800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:60496400-60496800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:60496400-60496800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:60496400-60496800	Enhancers	Fetal Muscle Trunk	muscle
49	chr5:60496400-60497000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:60496400-60497000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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