Variant report

Variant	rs72614667
Chromosome Location	chr8:55011916-55011917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55003709..55008030-chr8:55008912..55012851,6	K562	blood:
2	chr8:55010890..55013599-chr8:55056433..55059069,2	MCF-7	breast:
3	chr8:54934501..54937318-chr8:55011753..55013857,2	K562	blood:
4	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
5	chr8:54990580..54993539-chr8:55009667..55012320,2	K562	blood:
6	chr8:55011657..55013589-chr8:55059186..55062088,2	K562	blood:
7	chr8:54990580..54994755-chr8:55009285..55012320,3	K562	blood:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10101097	0.86[ASN][1000 genomes]
rs10113246	0.82[ASN][1000 genomes]
rs1050523	0.83[ASN][1000 genomes]
rs10958396	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986577	0.82[ASN][1000 genomes]
rs11993367	0.89[ASN][1000 genomes]
rs11994629	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996128	0.89[EUR][1000 genomes]
rs11996666	0.85[ASN][1000 genomes]
rs11997954	0.85[ASN][1000 genomes]
rs12056381	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12674671	0.85[ASN][1000 genomes]
rs12674895	0.89[EUR][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs12679103	0.90[EUR][1000 genomes]
rs1828835	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.92[EUR][1000 genomes]
rs2292590	0.92[EUR][1000 genomes]
rs2375696	0.90[EUR][1000 genomes]
rs2375697	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	0.84[ASN][1000 genomes]
rs4506187	0.89[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737485	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737486	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737487	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737488	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738519	0.84[ASN][1000 genomes]
rs4738556	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58387069	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58419852	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929175	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58948369	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59882028	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61319412	0.85[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6473900	0.85[ASN][1000 genomes]
rs6473909	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983694	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011379	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.85[ASN][1000 genomes]
rs72614665	0.85[ASN][1000 genomes]
rs72614666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614668	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463261	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464767	0.84[ASN][1000 genomes]
rs7815216	0.83[ASN][1000 genomes]
rs7842911	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298497	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952194	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.85[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
2	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:54975600-55012800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:54997800-55013800	Weak transcription	Pancreas	Pancrea
5	chr8:54999200-55013200	Weak transcription	Stomach Mucosa	stomach
6	chr8:54999600-55012800	Weak transcription	HSMMtube	muscle
7	chr8:54999800-55013000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:55000000-55012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:55000200-55012600	Weak transcription	Osteobl	bone
10	chr8:55000200-55013000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:55000200-55013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:55000200-55013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:55000200-55013000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:55000200-55013000	Weak transcription	Colonic Mucosa	Colon
15	chr8:55000200-55013200	Weak transcription	Brain Angular Gyrus	brain
16	chr8:55000200-55013200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:55000200-55013400	Weak transcription	Ovary	ovary
18	chr8:55000400-55012600	Weak transcription	NHDF-Ad	bronchial
19	chr8:55000400-55012800	Weak transcription	Small Intestine	intestine
20	chr8:55000400-55012800	Weak transcription	NHLF	lung
21	chr8:55001800-55012000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:55002400-55012800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:55002800-55012800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:55002800-55012800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:55002800-55013600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:55003000-55012000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:55003600-55012800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr8:55003800-55012800	Weak transcription	Fetal Brain Female	brain
29	chr8:55003800-55012800	Weak transcription	Thymus	Thymus
30	chr8:55004600-55012600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:55004800-55012400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:55004800-55013200	Weak transcription	Fetal Stomach	stomach
33	chr8:55005000-55012000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:55005000-55012000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:55005600-55012200	Strong transcription	HSMM	muscle
36	chr8:55005600-55012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:55005800-55012000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:55005800-55012000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:55005800-55012200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:55005800-55013400	Weak transcription	Gastric	stomach
41	chr8:55006200-55013400	Weak transcription	Left Ventricle	heart
42	chr8:55006800-55012200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:55007000-55012000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:55007000-55012200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:55007000-55012600	Weak transcription	Fetal Muscle Leg	muscle
46	chr8:55007000-55012800	Weak transcription	Right Atrium	heart
47	chr8:55007000-55013000	Weak transcription	Right Ventricle	heart
48	chr8:55007200-55012800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:55007200-55013200	Weak transcription	Aorta	Aorta
50	chr8:55007200-55013800	Weak transcription	Spleen	Spleen

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