Variant report

Variant	rs541997327
Chromosome Location	chr21:45393173-45393174
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45194764..45197470-chr21:45392399..45395050,2	MCF-7	breast:
2	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
3	chr21:45392942..45395258-chr21:45429589..45432675,3	K562	blood:
4	chr21:45386012..45388707-chr21:45392125..45394514,2	K562	blood:
5	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
6	chr21:45389343..45390928-chr21:45392630..45394554,2	K562	blood:
7	chr21:45391777..45394630-chr21:45405827..45408777,2	K562	blood:
8	chr21:45224259..45226376-chr21:45393066..45395792,2	K562	blood:
9	chr21:45389540..45391174-chr21:45393124..45394876,2	MCF-7	breast:
10	chr21:45286741..45288311-chr21:45392655..45395411,2	K562	blood:
11	chr21:45228242..45230563-chr21:45391322..45393859,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160213	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3337810	chr21:45392724-45396322	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3352585	chr21:45392724-45396422	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3343048	chr21:45392824-45397222	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
2	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:45377000-45398400	Weak transcription	A549	lung
4	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:45378200-45403800	Strong transcription	Dnd41	blood
7	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:45378600-45394800	Weak transcription	Fetal Brain Male	brain
9	chr21:45378600-45400800	Weak transcription	NH-A	brain
10	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
12	chr21:45379000-45393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
15	chr21:45380200-45395000	Weak transcription	HMEC	breast
16	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:45381800-45395000	Weak transcription	Fetal Kidney	kidney
19	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
20	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
22	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
24	chr21:45384200-45393200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45384200-45393800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:45384600-45393200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:45384600-45393200	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr21:45384600-45393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:45384600-45393800	Strong transcription	Fetal Intestine Large	intestine
30	chr21:45384800-45393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:45385000-45393600	Strong transcription	Adipose Nuclei	Adipose
32	chr21:45385000-45393800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:45385000-45393800	Strong transcription	Thymus	Thymus
34	chr21:45385200-45393400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr21:45385200-45393600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr21:45385200-45394000	Strong transcription	Pancreas	Pancrea
37	chr21:45386000-45393400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr21:45386000-45393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:45386000-45393800	Strong transcription	Esophagus	oesophagus
40	chr21:45386200-45393400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:45386200-45393800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:45386200-45393800	Strong transcription	Left Ventricle	heart
43	chr21:45386600-45393200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr21:45386600-45393800	Strong transcription	Brain Germinal Matrix	brain
45	chr21:45386800-45394000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr21:45387000-45393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:45387200-45393200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr21:45387400-45393400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr21:45387800-45393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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