Variant report

Variant	esv12187
Chromosome Location	chr21:47026008-47027529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46961725..46963272-chr21:47026426..47028621,2	K562	blood:
2	chr21:46960180..46963116-chr21:47024184..47026305,2	MCF-7	breast:
3	chr21:47021591..47023309-chr21:47027379..47029865,3	K562	blood:
4	chr21:46974571..46976311-chr21:47025633..47027995,2	MCF-7	breast:
5	chr21:47023058..47028814-chr21:47029340..47033815,7	MCF-7	breast:
6	chr21:46972832..46974576-chr21:47026202..47028691,2	K562	blood:

Variant related genes	Relation type
ENSG00000173638	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56165239	chr21:47026008-47026009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs13047348	chr21:47026010-47026011	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55818304	chr21:47026017-47026018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181016973	chr21:47026028-47026029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs55919891	chr21:47026030-47026031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538621197	chr21:47026046-47026047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556816516	chr21:47026060-47026061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13051492	chr21:47026061-47026062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs13051580	chr21:47026063-47026064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13047461	chr21:47026077-47026078	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561082685	chr21:47026081-47026082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553288746	chr21:47026090-47026091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13050281	chr21:47026096-47026097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs13051179	chr21:47026115-47026116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs13047472	chr21:47026116-47026117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145464991	chr21:47026123-47026124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13051602	chr21:47026131-47026132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13051604	chr21:47026133-47026134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13050297	chr21:47026141-47026142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565175833	chr21:47026146-47026147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114436151	chr21:47026148-47026149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58688091	chr21:47026151-47026152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs55953333	chr21:47026159-47026160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35789903	chr21:47026170-47026171	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111717464	chr21:47026182-47026183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111596234	chr21:47026185-47026186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59846922	chr21:47026192-47026193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551729644	chr21:47026197-47026198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111479776	chr21:47026201-47026202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56676321	chr21:47026203-47026204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs60971534	chr21:47026217-47026218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs60807058	chr21:47026219-47026220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs13050419	chr21:47026230-47026231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs57420518	chr21:47026236-47026237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372059013	chr21:47026240-47026241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375166866	chr21:47026256-47026257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563505142	chr21:47026262-47026263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368212683	chr21:47026273-47026274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368369830	chr21:47026288-47026289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372339914	chr21:47026289-47026290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs56018851	chr21:47026299-47026300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113782962	chr21:47026300-47026301	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185146202	chr21:47026322-47026323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55885690	chr21:47026325-47026326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59946650	chr21:47026332-47026333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57540796	chr21:47026333-47026334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534888227	chr21:47026336-47026337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547021006	chr21:47026337-47026338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61142708	chr21:47026341-47026342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571895044	chr21:47026342-47026343	Weak transcription	n/a	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47020800-47027000	Weak transcription	Thymus	Thymus
2	chr21:47022000-47039000	Weak transcription	Right Atrium	heart
3	chr21:47026800-47027000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:47026800-47027400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:47026800-47027400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:47026800-47028600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:47026800-47028800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr21:47026800-47029000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr21:47026800-47029600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr21:47027000-47027200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:47027000-47027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:47027000-47027200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr21:47027000-47027200	ZNF genes & repeats	Thymus	Thymus
14	chr21:47027000-47027400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr21:47027000-47027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr21:47027000-47028800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr21:47027200-47028600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr21:47027200-47033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47027200-47037600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr21:47027400-47027600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links