Variant report

Variant	esv18290
Chromosome Location	chr10:54783079-54788916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-2	chr10:54785024-54785887	XLOC_008826

Extended variants
information (count: 210 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372760223	chr10:54783084-54783085	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs118051019	chr10:54783109-54783110	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs80090265	chr10:54783133-54783134	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72800369	chr10:54783140-54783141	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568551623	chr10:54783141-54783142	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538314036	chr10:54783159-54783160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11812875	chr10:54783189-54783190	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs77235889	chr10:54783190-54783191	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188524747	chr10:54783216-54783217	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28865980	chr10:54783226-54783227	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558855464	chr10:54783236-54783237	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575448200	chr10:54783239-54783240	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113420298	chr10:54783244-54783245	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73349818	chr10:54783246-54783247	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554424914	chr10:54783265-54783266	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561793667	chr10:54783266-54783267	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373624564	chr10:54783289-54783290	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539910653	chr10:54783325-54783326	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559794148	chr10:54783355-54783356	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7902609	chr10:54783377-54783378	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74449497	chr10:54783427-54783428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563200386	chr10:54783457-54783458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531871222	chr10:54783466-54783467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530499645	chr10:54783546-54783547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548781019	chr10:54783630-54783631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139043200	chr10:54783632-54783633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112824357	chr10:54783638-54783639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570103395	chr10:54783670-54783671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146465960	chr10:54783692-54783693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140887036	chr10:54783737-54783738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143778594	chr10:54783739-54783740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538994856	chr10:54783749-54783750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151082752	chr10:54783772-54783773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191789817	chr10:54783782-54783783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552407018	chr10:54783803-54783804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549858422	chr10:54783808-54783809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565942880	chr10:54783812-54783813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74808632	chr10:54783813-54783814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554767343	chr10:54783815-54783816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574319972	chr10:54783816-54783817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533723369	chr10:54783879-54783880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535185315	chr10:54783919-54783920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538612778	chr10:54783932-54783933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558093263	chr10:54783947-54783948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11003337	chr10:54784008-54784009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs71502005	chr10:54784030-54784031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184276385	chr10:54784046-54784047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369744321	chr10:54784061-54784062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371118309	chr10:54784088-54784089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200831642	chr10:54784113-54784114	Weak transcription Enhancers	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:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54782000-54783400	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr10:54782000-54783600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:54782000-54783800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:54782200-54783200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:54782200-54783400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:54782200-54783600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr10:54782200-54784400	Enhancers	Fetal Kidney	kidney
8	chr10:54782400-54783400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:54782400-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:54782400-54784000	Enhancers	Placenta	Placenta
11	chr10:54782400-54786000	Enhancers	Fetal Stomach	stomach
12	chr10:54782600-54783200	Enhancers	Stomach Mucosa	stomach
13	chr10:54782600-54783400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:54782600-54783400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:54782600-54783600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:54782600-54783600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:54782600-54783600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:54782600-54783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:54782600-54783600	Enhancers	NHEK	skin
20	chr10:54782800-54783600	Enhancers	Fetal Intestine Small	intestine
21	chr10:54782800-54783600	Enhancers	Fetal Lung	lung
22	chr10:54782800-54783800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:54783000-54783200	Enhancers	Ovary	ovary
24	chr10:54783000-54783400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr10:54783000-54783600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr10:54783000-54783600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr10:54783200-54783400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr10:54783200-54784400	Weak transcription	Ovary	ovary
29	chr10:54783200-54784800	Weak transcription	Stomach Mucosa	stomach
30	chr10:54783400-54784400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr10:54783400-54784600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr10:54783400-54789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:54783600-54784400	Weak transcription	Fetal Lung	lung
34	chr10:54783600-54784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:54783600-54784600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:54783600-54784600	Weak transcription	Lung	lung
37	chr10:54783600-54784800	Weak transcription	Fetal Intestine Small	intestine
38	chr10:54783600-54784800	Weak transcription	NHEK	skin
39	chr10:54783600-54785000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:54783600-54785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:54783600-54785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:54783600-54785600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:54783600-54785800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr10:54783600-54789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:54783800-54784800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr10:54783800-54784800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr10:54784000-54784400	Weak transcription	Placenta	Placenta
48	chr10:54784400-54784600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr10:54784400-54784600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:54784400-54784600	Enhancers	Primary monocytes fromperipheralblood	blood

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