Variant report

Variant	esv14726
Chromosome Location	chr21:47318227-47318887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:47318282-47318284	MCF-7	breast:	n/a	n/a
2	POLR2A	chr21:47318330-47318469	K562	blood:	n/a	n/a
3	POLR2A	chr21:47318201-47318285	MCF-7	breast:	n/a	n/a
4	POLR2A	chr21:47318287-47318319	MCF-7	breast:	n/a	n/a
5	POLR2A	chr21:47318130-47318503	MCF-7	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTCD-6	chr21:47318759-47318789	NONHSAT082999
2	lnc-FTCD-6	chr21:47318001-47318626	NONHSAT082999

Variant related genes	Relation type
PCBP3	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111908728	chr21:47318233-47318234	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs370793293	chr21:47318248-47318249	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs111646496	chr21:47318259-47318260	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs9980523	chr21:47318266-47318267	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs13050086	chr21:47318273-47318274	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs141111584	chr21:47318274-47318275	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs13050087	chr21:47318276-47318277	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs188573025	chr21:47318285-47318286	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs9979433	chr21:47318292-47318293	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs113794952	chr21:47318300-47318301	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs113182255	chr21:47318311-47318312	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs9980542	chr21:47318326-47318327	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs537901329	chr21:47318332-47318333	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs112049866	chr21:47318337-47318338	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs375319302	chr21:47318340-47318341	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs367911973	chr21:47318341-47318342	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs13046599	chr21:47318343-47318344	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs13047010	chr21:47318350-47318351	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs62213761	chr21:47318352-47318353	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs556260657	chr21:47318354-47318355	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs77852687	chr21:47318363-47318364	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs79215305	chr21:47318370-47318371	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs574871734	chr21:47318373-47318374	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs9980637	chr21:47318397-47318398	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs9980638	chr21:47318399-47318400	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs542184928	chr21:47318405-47318406	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs138242865	chr21:47318410-47318411	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs554816997	chr21:47318422-47318423	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs13046725	chr21:47318435-47318436	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs72497641	chr21:47318440-47318441	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs13053045	chr21:47318441-47318442	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs112132999	chr21:47318443-47318444	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs113306837	chr21:47318451-47318452	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs116888911	chr21:47318455-47318456	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs546531674	chr21:47318456-47318457	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs118014617	chr21:47318457-47318458	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs111300426	chr21:47318464-47318465	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs563910786	chr21:47318465-47318466	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs192629804	chr21:47318489-47318490	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs146103724	chr21:47318492-47318493	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs185415278	chr21:47318510-47318511	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111586844	chr21:47318513-47318514	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs112246105	chr21:47318521-47318522	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs112611674	chr21:47318525-47318526	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs13046848	chr21:47318535-47318536	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs79605146	chr21:47318536-47318537	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs372811120	chr21:47318565-47318566	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs376324436	chr21:47318568-47318569	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs113720549	chr21:47318569-47318570	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs373524245	chr21:47318571-47318572	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47313400-47321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47313800-47321600	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:47314600-47324600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:47314600-47327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr21:47315200-47323400	Weak transcription	HSMMtube	muscle
11	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
12	chr21:47315800-47319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47316200-47322600	Weak transcription	Fetal Thymus	thymus
14	chr21:47316200-47326600	Strong transcription	Thymus	Thymus
15	chr21:47317600-47322400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47317800-47318600	Strong transcription	Spleen	Spleen
17	chr21:47317800-47322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47318000-47318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47318000-47320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47318600-47321000	Weak transcription	Spleen	Spleen
21	chr21:47318800-47319600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:47318800-47321200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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