Variant report

Variant	rs72755917
Chromosome Location	chr1:224395715-224395716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224394938..224397843-chr1:224400035..224402726,3	K562	blood:
2	chr1:224369572..224371706-chr1:224393451..224396309,2	MCF-7	breast:
3	chr1:224394938..224396806-chr1:224401226..224402970,2	K562	blood:

Variant related genes	Relation type
ENSG00000232628	Chromatin interaction
ENSG00000143753	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10495222	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1060386	0.87[ASN][1000 genomes]
rs10799529	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799539	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10916468	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10916489	0.88[ASN][1000 genomes]
rs10916512	0.87[ASN][1000 genomes]
rs10916515	0.86[ASN][1000 genomes]
rs10916533	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10916535	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11588603	0.87[ASN][1000 genomes]
rs11588981	0.87[ASN][1000 genomes]
rs12024159	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12134258	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12142842	0.91[ASN][1000 genomes]
rs12143450	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12143576	0.87[ASN][1000 genomes]
rs1401318	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2405302	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4290029	0.95[ASN][1000 genomes]
rs4446934	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4653997	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55977521	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56023673	0.87[ASN][1000 genomes]
rs6426060	0.85[ASN][1000 genomes]
rs6674695	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6682662	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72753995	0.87[ASN][1000 genomes]
rs72755906	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72755909	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72755914	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72755915	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541131	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs908802	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs908803	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs908804	0.81[AMR][1000 genomes];0.91[ASN][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	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224389600-224414400	Weak transcription	Fetal Brain Female	brain
2	chr1:224391600-224400000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:224391600-224400200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:224391600-224407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224392600-224400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224393400-224399000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:224393600-224397000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:224393600-224397200	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:224393600-224397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:224393600-224397600	Weak transcription	Left Ventricle	heart
11	chr1:224393600-224397600	Weak transcription	Spleen	Spleen
12	chr1:224393600-224397800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:224393600-224397800	Weak transcription	Right Ventricle	heart
14	chr1:224393600-224398800	Weak transcription	Brain Substantia Nigra	brain
15	chr1:224393600-224398800	Weak transcription	Fetal Kidney	kidney
16	chr1:224393600-224399000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:224393600-224399000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:224393600-224399000	Weak transcription	Psoas Muscle	Psoas
19	chr1:224393600-224399000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:224393600-224399200	Weak transcription	Lung	lung
21	chr1:224393600-224400200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:224393600-224400200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:224393600-224400200	Weak transcription	Gastric	stomach
24	chr1:224393600-224400400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:224393600-224400400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:224393600-224400800	Weak transcription	Right Atrium	heart
27	chr1:224393600-224401200	Weak transcription	Esophagus	oesophagus
28	chr1:224393600-224401200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:224393800-224396200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:224393800-224397200	Weak transcription	GM12878-XiMat	blood
31	chr1:224393800-224397800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:224393800-224398000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:224393800-224398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:224393800-224398600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:224393800-224398800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:224393800-224398800	Weak transcription	Fetal Heart	heart
37	chr1:224393800-224398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:224393800-224398800	Weak transcription	Fetal Lung	lung
39	chr1:224393800-224398800	Weak transcription	Fetal Stomach	stomach
40	chr1:224393800-224399000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:224393800-224399000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:224393800-224399000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:224393800-224399000	Weak transcription	NH-A	brain
44	chr1:224393800-224399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:224393800-224400200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:224393800-224400200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:224393800-224400200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:224393800-224400200	Weak transcription	HSMMtube	muscle
49	chr1:224393800-224405600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:224393800-224414200	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links