Variant report

Variant	rs72747320
Chromosome Location	chr1:220217153-220217154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
2	chr1:220138957..220140569-chr1:220217050..220219686,2	K562	blood:
3	chr1:220215559..220218002-chr1:220218306..220221270,3	MCF-7	breast:
4	chr1:220214211..220216766-chr1:220216909..220219452,2	MCF-7	breast:
5	chr1:220209718..220212778-chr1:220216575..220219154,4	K562	blood:
6	chr1:220215698..220219502-chr1:220266015..220268343,4	K562	blood:
7	chr1:220212894..220215277-chr1:220216645..220218222,3	K562	blood:

Variant related genes	Relation type
ENSG00000067704	Chromatin interaction
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2270711	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3767657	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4846612	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72745184	0.84[ASN][1000 genomes]
rs72747321	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
4	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
5	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
8	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
12	chr1:220207600-220218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:220208200-220218200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:220208400-220218200	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:220208600-220218000	Weak transcription	HSMM	muscle
16	chr1:220208800-220218400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:220210600-220218600	Weak transcription	Right Atrium	heart
18	chr1:220212400-220217200	Weak transcription	Gastric	stomach
19	chr1:220212400-220218200	Weak transcription	Stomach Mucosa	stomach
20	chr1:220212800-220217200	Weak transcription	Small Intestine	intestine
21	chr1:220212800-220218200	Weak transcription	HMEC	breast
22	chr1:220213400-220217600	Weak transcription	Lung	lung
23	chr1:220213400-220217800	Weak transcription	Aorta	Aorta
24	chr1:220213400-220218000	Weak transcription	Osteobl	bone
25	chr1:220213400-220218400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:220213400-220218600	Weak transcription	Left Ventricle	heart
27	chr1:220213400-220218600	Weak transcription	Psoas Muscle	Psoas
28	chr1:220213400-220218600	Weak transcription	Thymus	Thymus
29	chr1:220213400-220219000	Weak transcription	Ovary	ovary
30	chr1:220213400-220219200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:220213400-220219400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:220213400-220219400	Weak transcription	Spleen	Spleen
33	chr1:220213600-220218200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:220213600-220218200	Weak transcription	Adipose Nuclei	Adipose
35	chr1:220213600-220218200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:220213600-220218200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:220213600-220218200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:220213600-220218400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:220213600-220218600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:220213600-220218600	Weak transcription	Fetal Kidney	kidney
41	chr1:220213600-220218600	Weak transcription	HSMMtube	muscle
42	chr1:220213600-220219000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr1:220213800-220217800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:220213800-220218000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:220213800-220218200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:220213800-220218200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:220213800-220218200	Weak transcription	NH-A	brain
48	chr1:220213800-220218400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:220213800-220218600	Weak transcription	Placenta	Placenta
50	chr1:220213800-220218600	Weak transcription	Fetal Thymus	thymus

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