Variant report

Variant	esv3455425
Chromosome Location	chr21:47024024-47028922
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	chr21:47023058..47028814-chr21:47029340..47033815,7	MCF-7	breast:
2	chr21:46974571..46976311-chr21:47025633..47027995,2	MCF-7	breast:
3	chr21:47017594..47019535-chr21:47022599..47024478,3	K562	blood:
4	chr21:46961725..46963272-chr21:47026426..47028621,2	K562	blood:
5	chr21:46972832..46974576-chr21:47026202..47028691,2	K562	blood:
6	chr21:47021591..47023309-chr21:47027379..47029865,3	K562	blood:
7	chr21:47011232..47014038-chr21:47028509..47030945,2	MCF-7	breast:
8	chr21:47014325..47017105-chr21:47027718..47030231,2	MCF-7	breast:
9	chr21:46960180..46963116-chr21:47024184..47026305,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000233922	chromatin interactions
ENSG00000173638	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576641351	chr21:47024075-47024076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577012994	chr21:47024113-47024114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566132075	chr21:47024116-47024117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191470261	chr21:47024268-47024269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540774669	chr21:47024276-47024277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77980492	chr21:47024296-47024297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528811535	chr21:47024301-47024302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547136746	chr21:47024314-47024315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535144173	chr21:47024338-47024339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559012662	chr21:47024477-47024478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7283542	chr21:47024502-47024503	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144156821	chr21:47024527-47024528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183598606	chr21:47024528-47024529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375430145	chr21:47024542-47024543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551647795	chr21:47024623-47024624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569802181	chr21:47024660-47024661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536959169	chr21:47024689-47024690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188589192	chr21:47024695-47024696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529700322	chr21:47024716-47024717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367754457	chr21:47024754-47024755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371178674	chr21:47024785-47024786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554350453	chr21:47024786-47024787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537273376	chr21:47024802-47024803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs397834522	chr21:47024803-47024804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139693324	chr21:47024810-47024811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557627740	chr21:47024819-47024820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367997026	chr21:47024872-47024873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576546344	chr21:47024908-47024909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543761937	chr21:47024911-47024912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112392323	chr21:47024953-47024954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555637263	chr21:47024971-47024972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535040516	chr21:47025000-47025001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554967085	chr21:47025026-47025027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573341861	chr21:47025078-47025079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35708677	chr21:47025086-47025087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111943322	chr21:47025099-47025100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114405711	chr21:47025166-47025167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113942775	chr21:47025168-47025169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563344606	chr21:47025172-47025173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192826590	chr21:47025177-47025178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549346622	chr21:47025207-47025208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567559471	chr21:47025210-47025211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529342266	chr21:47025298-47025299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs185267062	chr21:47025311-47025312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190097124	chr21:47025314-47025315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4818793	chr21:47025325-47025326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563534367	chr21:47025332-47025333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147728338	chr21:47025367-47025368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543015026	chr21:47025418-47025419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559799604	chr21:47025420-47025421	Weak transcription	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47019200-47025400	Weak transcription	K562	blood
2	chr21:47020800-47027000	Weak transcription	Thymus	Thymus
3	chr21:47022000-47039000	Weak transcription	Right Atrium	heart
4	chr21:47026800-47027000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47026800-47027400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr21:47026800-47027400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:47026800-47028600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:47026800-47028800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:47026800-47029000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:47026800-47029600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr21:47027000-47027200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:47027000-47027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:47027000-47027200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:47027000-47027200	ZNF genes & repeats	Thymus	Thymus
15	chr21:47027000-47027400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr21:47027000-47027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:47027000-47028800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:47027200-47028600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr21:47027200-47033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47027200-47037600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:47027400-47027600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:47027600-47028600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:47027600-47028800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:47027800-47028000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:47027800-47028000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:47027800-47028000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:47027800-47028400	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr21:47027800-47028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr21:47028000-47028200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:47028000-47028600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr21:47028200-47028600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:47028200-47028800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr21:47028600-47028800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:47028600-47029000	ZNF genes & repeats	Thymus	Thymus
35	chr21:47028600-47033400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr21:47028600-47033400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr21:47028800-47033400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:47028800-47033400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr21:47028800-47033800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links