Variant report

Variant	esv3379495
Chromosome Location	chr21:46362337-46362748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr21:46362348-46362359	GM12878	blood:	n/a	n/a
2	MAX	chr21:46362572-46362822	GM12878	blood:	n/a	n/a
3	MAZ	chr21:46362591-46362819	GM12878	blood:	n/a	n/a
4	MXI1	chr21:46362560-46362920	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:46362537-46362730	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr21:46361974-46362588	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr21:46362698-46362914	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr21:46362632-46362768	K562	blood:	n/a	n/a
9	POLR2A	chr21:46362204-46362357	HUVEC	blood vessel:	n/a	n/a
10	USF2	chr21:46362571-46362830	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
2	chr21:46263369..46266030-chr21:46361753..46363305,2	MCF-7	breast:
3	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
4	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
5	chr21:46235456..46237269-chr21:46361591..46363708,2	K562	blood:
6	chr21:46359964..46363434-chr21:46389610..46392494,4	K562	blood:
7	chr21:46358799..46362946-chr21:46546409..46551680,5	K562	blood:
8	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
9	chr21:46235769..46238087-chr21:46361113..46363770,3	K562	blood:
10	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
11	chr21:46362156..46363996-chr21:46514336..46516407,2	K562	blood:
12	chr21:46220260..46222802-chr21:46358731..46365262,8	MCF-7	breast:
13	chr21:46352341..46354807-chr21:46362095..46363713,2	K562	blood:
14	chr21:46361267..46363821-chr21:46400005..46402889,2	K562	blood:
15	chr21:46360355..46363434-chr21:46390613..46392494,3	K562	blood:

No data

Variant related genes	Relation type
C21orf67	TF binding region
ENSG00000236519	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000268805	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000184787	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556693963	chr21:46362375-46362376	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs13046102	chr21:46362383-46362384	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs531713318	chr21:46362416-46362417	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs9637166	chr21:46362483-46362484	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs564213963	chr21:46362525-46362526	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs531578447	chr21:46362532-46362533	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs185192405	chr21:46362537-46362538	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs28461900	chr21:46362550-46362551	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528945894	chr21:46362554-46362555	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs189335272	chr21:46362626-46362627	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs115834889	chr21:46362664-46362665	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs539031814	chr21:46362671-46362672	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs181323233	chr21:46362691-46362692	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs1883072	chr21:46362692-46362693	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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 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
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
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46360600-46364000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46360800-46362400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46360800-46363200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46360800-46363400	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:46360800-46372400	Weak transcription	Aorta	Aorta
6	chr21:46361000-46362400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:46361000-46362400	Enhancers	Colonic Mucosa	Colon
8	chr21:46361000-46362600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr21:46361000-46363000	Enhancers	Fetal Thymus	thymus
10	chr21:46361000-46363200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr21:46361000-46363200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr21:46361000-46363200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr21:46361000-46363600	Enhancers	Primary B cells from cord blood	blood
14	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
15	chr21:46361200-46362400	Enhancers	Adipose Nuclei	Adipose
16	chr21:46361200-46362400	Enhancers	Brain Anterior Caudate	brain
17	chr21:46361200-46362400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:46361200-46362400	Flanking Active TSS	HepG2	liver
19	chr21:46361200-46362600	Enhancers	Brain Angular Gyrus	brain
20	chr21:46361200-46363200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:46361200-46363400	Enhancers	Pancreas	Pancrea
22	chr21:46361200-46363400	Flanking Active TSS	GM12878-XiMat	blood
23	chr21:46361400-46362400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr21:46361400-46362400	Enhancers	Psoas Muscle	Psoas
25	chr21:46361400-46362600	Genic enhancers	Fetal Muscle Trunk	muscle
26	chr21:46361400-46363000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:46361400-46363200	Enhancers	Primary T cells from cord blood	blood
28	chr21:46361400-46363400	Weak transcription	Osteobl	bone
29	chr21:46361400-46363600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr21:46361400-46363800	Genic enhancers	Spleen	Spleen
31	chr21:46361400-46367000	Weak transcription	HSMMtube	muscle
32	chr21:46361400-46369600	Weak transcription	NH-A	brain
33	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
34	chr21:46361600-46362400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:46361600-46362400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:46361600-46362400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:46361600-46362400	Enhancers	Brain Germinal Matrix	brain
38	chr21:46361600-46362400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr21:46361600-46362600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:46361600-46363000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:46361600-46363000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr21:46361600-46363000	Enhancers	Duodenum Mucosa	Duodenum
43	chr21:46361600-46363200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr21:46361600-46363400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:46361600-46363600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:46361600-46363600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr21:46361600-46363600	Weak transcription	Fetal Intestine Large	intestine
48	chr21:46361600-46363600	Weak transcription	NHLF	lung
49	chr21:46361600-46367200	Weak transcription	Right Atrium	heart
50	chr21:46361600-46375600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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