Variant report

Variant	esv12830
Chromosome Location	chr21:47027707-47029860
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46974214..46977129-chr21:47029575..47031768,2	K562	blood:
2	chr21:47023058..47028814-chr21:47029340..47033815,7	MCF-7	breast:
3	chr21:46974571..46976311-chr21:47025633..47027995,2	MCF-7	breast:
4	chr21:47021591..47023309-chr21:47027379..47029865,3	K562	blood:
5	chr21:47014325..47017105-chr21:47027718..47030231,2	MCF-7	breast:
6	chr21:47011232..47014038-chr21:47028509..47030945,2	MCF-7	breast:
7	chr21:46972832..46974576-chr21:47026202..47028691,2	K562	blood:
8	chr21:46961725..46963272-chr21:47026426..47028621,2	K562	blood:
9	chr21:47023058..47028814-chr21:47029340..47033815,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233922	chromatin interactions
ENSG00000173638	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538075274	chr21:47027729-47027730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201032991	chr21:47027745-47027746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397835263	chr21:47027746-47027747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs397867872	chr21:47027748-47027749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567507466	chr21:47027899-47027900	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549589441	chr21:47027958-47027959	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567882364	chr21:47027971-47027972	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs535372491	chr21:47027988-47027989	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113309425	chr21:47028013-47028014	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs117715457	chr21:47028093-47028094	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573236204	chr21:47028114-47028115	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79247130	chr21:47028128-47028129	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs928312	chr21:47028161-47028162	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149380664	chr21:47028266-47028267	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544681615	chr21:47028285-47028286	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369289107	chr21:47028316-47028317	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553045251	chr21:47028342-47028343	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542589903	chr21:47028386-47028387	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542529838	chr21:47028464-47028465	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs527313770	chr21:47028496-47028497	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77772436	chr21:47028512-47028513	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564083910	chr21:47028516-47028517	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs531322584	chr21:47028600-47028601	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549427925	chr21:47028640-47028641	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567919486	chr21:47028642-47028643	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566866447	chr21:47028664-47028665	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs116531583	chr21:47028684-47028685	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547328107	chr21:47028710-47028711	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187886883	chr21:47028763-47028764	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192331951	chr21:47028799-47028800	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558696603	chr21:47028805-47028806	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534570049	chr21:47028813-47028814	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577126612	chr21:47028815-47028816	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148560298	chr21:47028895-47028896	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556689574	chr21:47028903-47028904	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs142901233	chr21:47028917-47028918	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542423874	chr21:47028952-47028953	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560871398	chr21:47028961-47028962	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs146604071	chr21:47028964-47028965	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs546445097	chr21:47028967-47028968	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571293143	chr21:47028969-47028970	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563937990	chr21:47028978-47028979	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531162616	chr21:47028985-47028986	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543160287	chr21:47028990-47028991	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202059817	chr21:47028996-47028997	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561440191	chr21:47029009-47029010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529088436	chr21:47029103-47029104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111690367	chr21:47029110-47029111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547294884	chr21:47029123-47029124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565831520	chr21:47029132-47029133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47022000-47039000	Weak transcription	Right Atrium	heart
2	chr21:47026800-47028600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr21:47026800-47028800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr21:47026800-47029000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr21:47026800-47029600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr21:47027000-47028800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr21:47027200-47028600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr21:47027200-47033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47027200-47037600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:47027600-47028600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:47027600-47028800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:47027800-47028000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:47027800-47028000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr21:47027800-47028000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:47027800-47028400	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr21:47027800-47028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr21:47028000-47028200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:47028000-47028600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:47028200-47028600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr21:47028200-47028800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:47028600-47028800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:47028600-47029000	ZNF genes & repeats	Thymus	Thymus
23	chr21:47028600-47033400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:47028600-47033400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr21:47028800-47033400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr21:47028800-47033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr21:47028800-47033800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr21:47029000-47029400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr21:47029000-47030600	Weak transcription	Thymus	Thymus
30	chr21:47029400-47030000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr21:47029600-47029800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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