Variant report

Variant	esv3351483
Chromosome Location	chr21:40114930-40115257
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	GATA3	chr21:40114441-40115014	SK-N-SH	brain:	n/a	n/a
2	SP1	chr21:40115036-40115260	GM12878	blood:	n/a	n/a
3	TCF12	chr21:40114382-40115008	SK-N-SH	brain:	n/a	n/a
4	ZBTB33	chr21:40115022-40115306	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40113948..40115514-chr21:40177430..40179064,2	K562	blood:

Variant related genes	Relation type
LINC00114	TF binding region
ENSG00000157557	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555079418	chr21:40114946-40114947	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs199503843	chr21:40114952-40114953	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201641563	chr21:40114966-40114967	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376076556	chr21:40114977-40114978	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs562512630	chr21:40114989-40114990	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200983390	chr21:40114992-40114993	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561442190	chr21:40114993-40114994	Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573808031	chr21:40115029-40115030	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs571602040	chr21:40115030-40115031	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376221174	chr21:40115032-40115033	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542756049	chr21:40115047-40115048	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142956135	chr21:40115054-40115055	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs28571705	chr21:40115069-40115070	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560842863	chr21:40115070-40115071	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs569501748	chr21:40115078-40115079	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs57022594	chr21:40115110-40115111	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs202117432	chr21:40115111-40115112	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs72308536	chr21:40115112-40115113	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200431844	chr21:40115113-40115114	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs58649908	chr21:40115125-40115126	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs61474511	chr21:40115131-40115132	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187547828	chr21:40115133-40115134	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200235306	chr21:40115141-40115142	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577084183	chr21:40115142-40115143	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59259759	chr21:40115153-40115154	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs61573966	chr21:40115157-40115158	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576056827	chr21:40115171-40115172	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544480604	chr21:40115186-40115187	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564240793	chr21:40115187-40115188	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533123996	chr21:40115189-40115190	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546479320	chr21:40115195-40115196	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201781327	chr21:40115199-40115200	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111477007	chr21:40115201-40115202	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560248236	chr21:40115205-40115206	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs528987804	chr21:40115211-40115212	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112104952	chr21:40115213-40115214	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575877183	chr21:40115214-40115215	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40111600-40116200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40111600-40116400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40112000-40115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:40112200-40115000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:40113600-40115800	Weak transcription	Small Intestine	intestine
7	chr21:40113800-40116000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:40113800-40119200	Weak transcription	Spleen	Spleen
9	chr21:40114000-40115600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:40114000-40115600	Weak transcription	Lung	lung
11	chr21:40114000-40115600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:40114000-40118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:40114000-40119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:40114200-40119000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:40114800-40115400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:40114800-40115400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr21:40115000-40115200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:40115000-40115400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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