Variant report

Variant	esv3505395
Chromosome Location	chr10:54781546-54785944
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54782310..54784916-chr10:54787401..54789318,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-2	chr10:54785024-54785887	XLOC_008826
2	lnc-MBL2-2	chr10:54782584-54782720	XLOC_008826
3	lnc-MBL2-2	chr10:54782584-54782720	XLOC_008826
4	lnc-MBL2-2	chr10:54782584-54782720	NONHSAT013446
5	lnc-MBL2-2	chr10:54782584-54782768	XLOC_008826

No data

Variant related genes	Relation type
MYB	miRNA target sites

Extended variants
information (count: 172 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550320625	chr10:54781554-54781555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567227087	chr10:54781561-54781562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2249478	chr10:54781562-54781563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546925225	chr10:54781646-54781647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546349611	chr10:54781655-54781656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143123393	chr10:54781683-54781684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377015471	chr10:54781766-54781767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10824857	chr10:54781771-54781772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs558677537	chr10:54781894-54781895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57494549	chr10:54781930-54781931	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538303104	chr10:54781952-54781953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376949978	chr10:54781998-54781999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183033022	chr10:54782047-54782048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80131494	chr10:54782083-54782084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11003335	chr10:54782085-54782086	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs567971730	chr10:54782115-54782116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11003336	chr10:54782137-54782138	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs7069155	chr10:54782187-54782188	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs147471930	chr10:54782198-54782199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372807631	chr10:54782223-54782224	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565039099	chr10:54782229-54782230	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139974840	chr10:54782238-54782239	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550680375	chr10:54782259-54782260	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552868729	chr10:54782282-54782283	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369133783	chr10:54782360-54782361	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367914224	chr10:54782364-54782365	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59596028	chr10:54782373-54782374	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187615214	chr10:54782394-54782395	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546830368	chr10:54782402-54782403	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73349812	chr10:54782403-54782404	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193239847	chr10:54782436-54782437	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572302718	chr10:54782439-54782440	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs67933307	chr10:54782514-54782515	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58584281	chr10:54782516-54782517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538902738	chr10:54782528-54782529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374044287	chr10:54782546-54782547	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552369802	chr10:54782560-54782561	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569404371	chr10:54782561-54782562	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538032402	chr10:54782631-54782632	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs555078856	chr10:54782709-54782710	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs568459592	chr10:54782716-54782717	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560235555	chr10:54782722-54782723	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs150558480	chr10:54782732-54782733	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs139648058	chr10:54782748-54782749	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs117347328	chr10:54782765-54782766	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs183956415	chr10:54782771-54782772	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187766635	chr10:54782809-54782810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558553526	chr10:54782828-54782829	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs575432522	chr10:54782856-54782857	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192345707	chr10:54782879-54782880	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54765200-54782600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:54767600-54782200	Weak transcription	Fetal Kidney	kidney
3	chr10:54773600-54782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:54781200-54782200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:54781800-54782200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:54781800-54782200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:54782000-54782200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr10:54782000-54782200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:54782000-54783400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr10:54782000-54783600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:54782000-54783800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:54782200-54782400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr10:54782200-54782400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr10:54782200-54782600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:54782200-54783000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr10:54782200-54783000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr10:54782200-54783200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:54782200-54783400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr10:54782200-54783600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr10:54782200-54784400	Enhancers	Fetal Kidney	kidney
21	chr10:54782400-54782600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:54782400-54782600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:54782400-54782800	Weak transcription	Lung	lung
24	chr10:54782400-54783000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:54782400-54783400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr10:54782400-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:54782400-54784000	Enhancers	Placenta	Placenta
28	chr10:54782400-54786000	Enhancers	Fetal Stomach	stomach
29	chr10:54782600-54782800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr10:54782600-54783000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr10:54782600-54783000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:54782600-54783000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr10:54782600-54783000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:54782600-54783200	Enhancers	Stomach Mucosa	stomach
35	chr10:54782600-54783400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:54782600-54783400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:54782600-54783600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr10:54782600-54783600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr10:54782600-54783600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr10:54782600-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:54782600-54783600	Enhancers	NHEK	skin
42	chr10:54782800-54783600	Enhancers	Fetal Intestine Small	intestine
43	chr10:54782800-54783600	Enhancers	Fetal Lung	lung
44	chr10:54782800-54783800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr10:54783000-54783200	Enhancers	Ovary	ovary
46	chr10:54783000-54783400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr10:54783000-54783600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr10:54783000-54783600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:54783200-54783400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:54783200-54784400	Weak transcription	Ovary	ovary

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