Variant report

Variant	rs56111673
Chromosome Location	chr21:37696189-37696190
allele	C/T
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	POLR2A	chr21:37692048-37696259	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37696119..37698828-chr21:37701284..37703538,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273199	TF binding region

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61739929	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73202280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202290	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202299	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37693600-37702800	Weak transcription	Ovary	ovary
2	chr21:37694200-37696200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr21:37694200-37709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:37694400-37696200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr21:37694400-37696200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:37694400-37696200	Weak transcription	Fetal Intestine Small	intestine
7	chr21:37694400-37696400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:37694400-37696600	Enhancers	Adipose Nuclei	Adipose
9	chr21:37694400-37697600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:37694400-37697600	Enhancers	Stomach Smooth Muscle	stomach
11	chr21:37694400-37697800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:37694400-37699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:37694400-37699600	Weak transcription	Brain Substantia Nigra	brain
14	chr21:37694400-37699600	Weak transcription	Right Atrium	heart
15	chr21:37694400-37699800	Weak transcription	Brain Anterior Caudate	brain
16	chr21:37694400-37699800	Weak transcription	Stomach Mucosa	stomach
17	chr21:37694400-37700200	Weak transcription	Spleen	Spleen
18	chr21:37694400-37702200	Weak transcription	Colonic Mucosa	Colon
19	chr21:37694400-37702800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr21:37694400-37703200	Weak transcription	Fetal Kidney	kidney
21	chr21:37694400-37709200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:37694400-37713000	Weak transcription	Esophagus	oesophagus
23	chr21:37694400-37713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:37694400-37718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:37694600-37696200	Enhancers	Hela-S3	cervix
26	chr21:37694600-37696200	Enhancers	HUVEC	blood vessel
27	chr21:37694600-37696600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:37694600-37696800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr21:37694600-37696800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:37694600-37696800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr21:37694600-37696800	Weak transcription	Osteobl	bone
32	chr21:37694600-37697600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr21:37694600-37698200	Enhancers	HepG2	liver
34	chr21:37694600-37701600	Weak transcription	NH-A	brain
35	chr21:37694600-37705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr21:37694600-37706200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr21:37694600-37709000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr21:37694800-37700000	Weak transcription	Right Ventricle	heart
39	chr21:37695000-37696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:37695000-37696400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:37695000-37697000	Weak transcription	Placenta	Placenta
42	chr21:37695000-37700200	Weak transcription	Lung	lung
43	chr21:37695000-37701600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr21:37695000-37701600	Weak transcription	Gastric	stomach
45	chr21:37695000-37704400	Weak transcription	Aorta	Aorta
46	chr21:37695000-37706400	Weak transcription	Thymus	Thymus
47	chr21:37695000-37713800	Weak transcription	Fetal Brain Male	brain
48	chr21:37695200-37696400	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr21:37695200-37696600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:37695200-37696800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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