Variant report

Variant	esv3510951
Chromosome Location	chr10:54784971-54789819
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	chr10:54789671-54789884	XLOC_008826
2	lnc-MBL2-2	chr10:54789671-54789855	XLOC_008826
3	lnc-MBL2-2	chr10:54785024-54785887	XLOC_008826
4	lnc-MBL2-2	chr10:54789671-54789810	NONHSAT013446
5	lnc-MBL2-2	chr10:54789652-54790030	XLOC_008826

No data

Extended variants
information (count: 179 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs535269310	chr10:54784972-54784973	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563787608	chr10:54784995-54784996	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563020226	chr10:54785023-54785024	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548960739	chr10:54785077-54785078	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs568017101	chr10:54785140-54785141	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs527549164	chr10:54785146-54785147	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs143057149	chr10:54785171-54785172	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs10215	chr10:54785232-54785233	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190166410	chr10:54785270-54785271	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs543968337	chr10:54785290-54785291	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs146633806	chr10:54785387-54785388	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs373586704	chr10:54785389-54785390	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs200014652	chr10:54785390-54785391	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200807491	chr10:54785395-54785396	Enhancers Weak transcription Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs532726739	chr10:54785407-54785408	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs556027468	chr10:54785473-54785474	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs202095474	chr10:54785502-54785503	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs552468484	chr10:54785508-54785509	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs200126028	chr10:54785518-54785519	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs201249652	chr10:54785558-54785559	Weak transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569732634	chr10:54785615-54785616	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs535109490	chr10:54785623-54785624	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375587411	chr10:54785633-54785634	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs566006073	chr10:54785644-54785645	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs572790849	chr10:54785688-54785689	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs541715341	chr10:54785702-54785703	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs11003338	chr10:54785799-54785800	Weak transcription Enhancers Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs558463934	chr10:54785818-54785819	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs578132996	chr10:54785829-54785830	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs180826128	chr10:54785879-54785880	ZNF genes & repeats Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs138427800	chr10:54785948-54785949	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529341605	chr10:54785981-54785982	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528759920	chr10:54785991-54785992	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542629214	chr10:54785994-54785995	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555136138	chr10:54786013-54786014	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185499604	chr10:54786041-54786042	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547323625	chr10:54786061-54786062	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202015572	chr10:54786113-54786114	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570718098	chr10:54786132-54786133	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548799860	chr10:54786143-54786144	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190164102	chr10:54786218-54786219	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568554845	chr10:54786357-54786358	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112073883	chr10:54786423-54786424	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569663183	chr10:54786428-54786429	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535506872	chr10:54786440-54786441	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557448628	chr10:54786537-54786538	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570873083	chr10:54786607-54786608	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539813977	chr10:54786608-54786609	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182803744	chr10:54786635-54786636	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555422703	chr10:54786694-54786695	ZNF genes & repeats 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:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54782400-54786000	Enhancers	Fetal Stomach	stomach
2	chr10:54783400-54789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:54783600-54785000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:54783600-54785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:54783600-54785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:54783600-54785600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr10:54783600-54785800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:54783600-54789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:54784400-54785400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:54784400-54785600	Flanking Active TSS	Fetal Kidney	kidney
11	chr10:54784600-54785200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr10:54784600-54785200	Active TSS	Primary hematopoietic stem cells	blood
13	chr10:54784600-54785200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:54784600-54785400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:54784600-54785400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:54784600-54785400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr10:54784600-54785400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:54784600-54785400	Active TSS	Ovary	ovary
19	chr10:54784600-54785400	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr10:54784600-54785600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:54784600-54785600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr10:54784800-54785000	Enhancers	Primary B cells from cord blood	blood
23	chr10:54784800-54785000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr10:54784800-54785200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:54784800-54785200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:54784800-54785200	Active TSS	Adipose Nuclei	Adipose
27	chr10:54784800-54785200	Active TSS	Liver	Liver
28	chr10:54784800-54785200	Active TSS	Colon Smooth Muscle	Colon
29	chr10:54784800-54785200	Active TSS	Duodenum Mucosa	Duodenum
30	chr10:54784800-54785200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:54784800-54785200	Active TSS	Fetal Muscle Trunk	muscle
32	chr10:54784800-54785200	Flanking Active TSS	Placenta	Placenta
33	chr10:54784800-54785200	Active TSS	Pancreas	Pancrea
34	chr10:54784800-54785200	Active TSS	Stomach Smooth Muscle	stomach
35	chr10:54784800-54785200	Active TSS	GM12878-XiMat	blood
36	chr10:54784800-54785200	Active TSS	Hela-S3	cervix
37	chr10:54784800-54785200	Flanking Active TSS	HepG2	liver
38	chr10:54784800-54785200	Active TSS	HSMMtube	muscle
39	chr10:54784800-54785200	Active TSS	NHEK	skin
40	chr10:54784800-54785200	Active TSS	NHLF	lung
41	chr10:54784800-54785400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr10:54784800-54785400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:54784800-54785400	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr10:54784800-54785400	Active TSS	Fetal Intestine Large	intestine
45	chr10:54784800-54785400	Active TSS	Fetal Intestine Small	intestine
46	chr10:54784800-54785400	Active TSS	Fetal Lung	lung
47	chr10:54784800-54785400	Active TSS	Stomach Mucosa	stomach
48	chr10:54784800-54785400	Flanking Active TSS	HUVEC	blood vessel
49	chr10:54784800-54785600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:54784800-54785600	Active TSS	Rectal Mucosa Donor 31	rectum

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