Variant report

Variant	esv3358504
Chromosome Location	chr21:47207024-47211322
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:47063094..47065588-chr21:47209063..47210851,2	MCF-7	breast:
2	chr21:47208812..47212516-chr21:47213678..47217597,6	K562	blood:
3	chr21:47206811..47209774-chr21:47211512..47213550,2	MCF-7	breast:
4	chr21:47204063..47206978-chr21:47208624..47210264,2	MCF-7	breast:
5	chr21:47208950..47210600-chr21:47211378..47213777,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-3	chr21:47207916-47208291	NONHSAT082992
2	lnc-COL6A1-3	chr21:47207916-47208291	NONHSAT082993
3	lnc-COL6A1-3	chr21:47209390-47209585	NONHSAT082993
4	lnc-COL6A1-3	chr21:47208212-47208653	NONHSAT082981

No data

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs531046708	chr21:47207031-47207032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544239448	chr21:47207067-47207068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75409231	chr21:47207073-47207074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191272795	chr21:47207076-47207077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143555462	chr21:47207089-47207090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571852309	chr21:47207099-47207100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111563074	chr21:47207115-47207116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576564100	chr21:47207246-47207247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371283797	chr21:47207309-47207310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77953681	chr21:47207324-47207325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539279808	chr21:47207340-47207341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62213551	chr21:47207343-47207344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182683205	chr21:47207350-47207351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574868086	chr21:47207393-47207394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534926713	chr21:47207397-47207398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554230990	chr21:47207398-47207399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114321966	chr21:47207417-47207418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112703029	chr21:47207418-47207419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564033298	chr21:47207457-47207458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370645630	chr21:47207492-47207493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540054348	chr21:47207497-47207498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565048490	chr21:47207540-47207541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532318703	chr21:47207550-47207551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544466288	chr21:47207603-47207604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542482022	chr21:47207689-47207690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563699119	chr21:47207721-47207722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562259942	chr21:47207750-47207751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35576223	chr21:47207768-47207769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530911261	chr21:47207908-47207909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11700556	chr21:47207912-47207913	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539820942	chr21:47207920-47207921	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs567760592	chr21:47207930-47207931	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186867560	chr21:47207946-47207947	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs546889798	chr21:47208032-47208033	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs368520875	chr21:47208033-47208034	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs538987871	chr21:47208040-47208041	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs9977623	chr21:47208055-47208056	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113716702	chr21:47208092-47208093	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs552199268	chr21:47208124-47208125	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs371555682	chr21:47208126-47208127	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs535839190	chr21:47208130-47208131	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs554094169	chr21:47208144-47208145	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs572611742	chr21:47208156-47208157	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs553198537	chr21:47208157-47208158	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs115566063	chr21:47208183-47208184	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532070884	chr21:47208211-47208212	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558493374	chr21:47208271-47208272	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs551997678	chr21:47208328-47208329	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs576945600	chr21:47208329-47208330	Enhancers Weak transcription Bivalent Enhancer Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs544213669	chr21:47208334-47208335	Enhancers Weak transcription Bivalent Enhancer 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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47188800-47208000	Weak transcription	NHDF-Ad	bronchial
2	chr21:47197400-47214200	Weak transcription	Primary T cells from cord blood	blood
3	chr21:47199200-47212800	Weak transcription	Fetal Thymus	thymus
4	chr21:47199400-47217200	Weak transcription	Spleen	Spleen
5	chr21:47206200-47208200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr21:47207000-47208000	Weak transcription	Thymus	Thymus
7	chr21:47208000-47208200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:47208000-47208600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:47208000-47209000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47208000-47209400	Enhancers	NHDF-Ad	bronchial
11	chr21:47208000-47213400	Strong transcription	Thymus	Thymus
12	chr21:47208000-47217200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:47208200-47208600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:47208200-47208600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:47208400-47208800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:47208400-47209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:47208400-47209200	Enhancers	NH-A	brain
18	chr21:47208600-47208800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47208600-47209000	Weak transcription	Pancreas	Pancrea
20	chr21:47208600-47209200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:47208800-47209000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:47208800-47209000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:47208800-47209400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47209000-47209200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:47209000-47209200	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr21:47209000-47209200	Enhancers	Gastric	stomach
27	chr21:47209000-47209400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr21:47209000-47209400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:47209000-47209400	ZNF genes & repeats	Fetal Kidney	kidney
30	chr21:47209000-47209600	ZNF genes & repeats	Pancreas	Pancrea
31	chr21:47209200-47209800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:47209200-47217200	Weak transcription	Gastric	stomach
33	chr21:47209400-47210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:47209400-47213200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47209400-47213400	Weak transcription	Fetal Kidney	kidney
36	chr21:47209600-47217200	Weak transcription	Pancreas	Pancrea
37	chr21:47210800-47213200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:47211000-47213000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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