Variant report

Variant	esv3416121
Chromosome Location	chr21:46716433-46716831
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:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46715805..46717314-chr21:46768759..46770492,2	MCF-7	breast:
2	chr21:46700239..46703148-chr21:46713861..46716448,2	K562	blood:
3	chr21:46557676..46559352-chr21:46716389..46718558,2	MCF-7	breast:
4	chr21:46706676..46710875-chr21:46714092..46720289,6	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADARB1-3	chr21:46716117-46717269	XLOC_013981
2	lnc-ADARB1-3	chr21:46715936-46717266	XLOC_013981
3	lnc-ADARB1-3	chr21:46710386-46717269	NONHSAT082933
4	lnc-ADARB1-3	chr21:46715936-46717386	XLOC_013981
5	lnc-ADARB1-3	chr21:46710386-46717268	XLOC_013981
6	lnc-ADARB1-3	chr21:46715936-46717721	XLOC_013981

No data

Variant related genes	Relation type
ENSG00000215447	chromatin interactions
ENSG00000186866	chromatin interactions
KDM2A	miRNA target sites

Extended variants
information (count: 12 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375985560	chr21:46716443-46716444	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs151314228	chr21:46716450-46716451	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs572023075	chr21:46716467-46716468	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs540578165	chr21:46716475-46716476	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs116548206	chr21:46716520-46716521	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs11540847	chr21:46716551-46716552	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs577262718	chr21:46716552-46716553	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs181431111	chr21:46716572-46716573	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs80043890	chr21:46716640-46716641	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs575060475	chr21:46716645-46716646	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs186366389	chr21:46716695-46716696	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs9977389	chr21:46716805-46716806	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46710600-46716800	Enhancers	Fetal Heart	heart
2	chr21:46711400-46719200	Weak transcription	NHEK	skin
3	chr21:46711600-46716800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:46712000-46716800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:46712200-46717000	Enhancers	NHDF-Ad	bronchial
6	chr21:46713400-46717000	Weak transcription	A549	lung
7	chr21:46713400-46717400	Weak transcription	Liver	Liver
8	chr21:46713400-46720400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:46713600-46720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:46713600-46720400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:46713600-46721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:46713600-46721800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:46713600-46722600	Weak transcription	Primary T cells from cord blood	blood
14	chr21:46713800-46716800	Enhancers	Colon Smooth Muscle	Colon
15	chr21:46713800-46738800	Weak transcription	Gastric	stomach
16	chr21:46714600-46716800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:46714800-46720400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr21:46715000-46722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:46715200-46716600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:46715200-46717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr21:46715200-46718600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:46715200-46720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr21:46715200-46722000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:46715200-46726400	Weak transcription	Brain Germinal Matrix	brain
25	chr21:46715400-46716600	Enhancers	Fetal Lung	lung
26	chr21:46715400-46716800	Enhancers	Rectal Smooth Muscle	rectum
27	chr21:46715400-46717000	Enhancers	HSMMtube	muscle
28	chr21:46715400-46717400	Weak transcription	HepG2	liver
29	chr21:46715400-46726200	Weak transcription	Brain Hippocampus Middle	brain
30	chr21:46715600-46716600	Enhancers	NH-A	brain
31	chr21:46715600-46719400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:46715600-46719400	Weak transcription	Right Ventricle	heart
33	chr21:46715600-46720000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:46715600-46720000	Weak transcription	Colonic Mucosa	Colon
35	chr21:46715600-46720800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:46715600-46722000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr21:46715600-46726200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:46715600-46730000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr21:46715800-46718600	Weak transcription	K562	blood
40	chr21:46715800-46719400	Weak transcription	Brain Substantia Nigra	brain
41	chr21:46715800-46719400	Weak transcription	Left Ventricle	heart
42	chr21:46715800-46719600	Weak transcription	Adipose Nuclei	Adipose
43	chr21:46715800-46719800	Weak transcription	Small Intestine	intestine
44	chr21:46715800-46720200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr21:46715800-46721000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:46715800-46721200	Weak transcription	Spleen	Spleen
47	chr21:46715800-46721400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:46715800-46721600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr21:46715800-46724200	Weak transcription	Pancreas	Pancrea
50	chr21:46715800-46726000	Weak transcription	Brain Anterior Caudate	brain

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