Variant report

Variant	rs60280354
Chromosome Location	chr5:96360443-96360444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96360368..96362790-chr5:96362902..96365710,3	K562	blood:
2	chr5:96360377..96362346-chr5:96465459..96468207,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12656253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303210	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3797795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797797	0.88[ASN][1000 genomes]
rs3797798	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806940	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55767008	0.88[ASN][1000 genomes]
rs55870170	0.88[ASN][1000 genomes]
rs58477147	1.00[AMR][1000 genomes]
rs58518878	0.83[AFR][1000 genomes]
rs58748938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60498968	0.83[AFR][1000 genomes]
rs6861423	0.90[AFR][1000 genomes]
rs6862188	0.87[EUR][1000 genomes]
rs73141135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141187	1.00[AMR][1000 genomes]
rs769336	1.00[AMR][1000 genomes]
rs769338	1.00[AMR][1000 genomes]
rs7723473	1.00[AMR][1000 genomes]
rs7728347	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
4	chr5:96342600-96374400	Weak transcription	HepG2	liver
5	chr5:96346600-96372600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:96347000-96373600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:96347200-96363400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:96348400-96372400	Strong transcription	Fetal Thymus	thymus
9	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:96348600-96366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:96352200-96372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:96354200-96363800	Weak transcription	Pancreas	Pancrea
14	chr5:96355800-96372200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:96356000-96364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:96356000-96366400	Weak transcription	A549	lung
17	chr5:96356200-96360600	Weak transcription	HMEC	breast
18	chr5:96356200-96361000	Strong transcription	Fetal Stomach	stomach
19	chr5:96356200-96364400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:96356400-96364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:96357200-96364800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:96357600-96361200	Strong transcription	Fetal Muscle Leg	muscle
23	chr5:96357800-96360600	Strong transcription	Fetal Intestine Small	intestine
24	chr5:96357800-96361000	Strong transcription	Thymus	Thymus
25	chr5:96357800-96361200	Strong transcription	Spleen	Spleen
26	chr5:96357800-96361400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr5:96357800-96361400	Strong transcription	Left Ventricle	heart
28	chr5:96357800-96365000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:96357800-96365400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr5:96357800-96373800	Strong transcription	Adipose Nuclei	Adipose
31	chr5:96358000-96360600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:96358000-96361200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:96358000-96361600	Strong transcription	Colon Smooth Muscle	Colon
34	chr5:96358000-96364600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:96358000-96364600	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:96358000-96364800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr5:96358000-96365600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr5:96358000-96365800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:96358000-96367400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:96358000-96367800	Strong transcription	Fetal Intestine Large	intestine
41	chr5:96358000-96368200	Strong transcription	Liver	Liver
42	chr5:96358000-96372800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:96358000-96373000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:96358200-96362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:96358200-96372400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:96358200-96372400	Strong transcription	Dnd41	blood
47	chr5:96358400-96361000	Strong transcription	Right Ventricle	heart
48	chr5:96358400-96365400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:96358400-96367400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:96358600-96360600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links