Variant report

Variant	rs13253647
Chromosome Location	chr8:61767908-61767909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10092214	1.00[YRI][hapmap]
rs10106752	1.00[YRI][hapmap]
rs1017861	1.00[YRI][hapmap]
rs1017862	1.00[YRI][hapmap]
rs12542688	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12680437	1.00[YRI][hapmap]
rs13279465	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17826359	1.00[YRI][hapmap]
rs28860866	0.86[AFR][1000 genomes]
rs3814483	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4288413	1.00[YRI][hapmap]
rs4294221	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4364669	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4738813	1.00[YRI][hapmap]
rs4738816	1.00[YRI][hapmap]
rs4738817	1.00[YRI][hapmap]
rs4738836	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7005218	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7835942	0.86[AFR][1000 genomes]
rs876957	1.00[YRI][hapmap]
rs900503	1.00[YRI][hapmap]
rs900504	1.00[YRI][hapmap]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:61741200-61770600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:61741800-61777600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:61741800-61780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:61742200-61778800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61743400-61777400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:61748400-61771800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:61748600-61770400	Strong transcription	Placenta	Placenta
10	chr8:61749400-61770200	Strong transcription	HepG2	liver
11	chr8:61749400-61777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:61749600-61768000	Weak transcription	Ovary	ovary
13	chr8:61750800-61776200	Strong transcription	Liver	Liver
14	chr8:61751000-61777800	Weak transcription	Aorta	Aorta
15	chr8:61751800-61780400	Strong transcription	Fetal Intestine Large	intestine
16	chr8:61752600-61780400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:61752800-61773800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:61752800-61779000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:61753000-61770400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr8:61753000-61779200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:61753200-61779400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:61753200-61782000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:61753400-61772400	Strong transcription	Dnd41	blood
24	chr8:61753600-61770400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:61753600-61778600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr8:61754000-61769800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:61754400-61769600	Strong transcription	K562	blood
28	chr8:61756200-61769200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:61757200-61768600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:61759400-61769600	Genic enhancers	Fetal Muscle Leg	muscle
31	chr8:61759600-61776400	Strong transcription	Primary T cells from cord blood	blood
32	chr8:61760400-61780000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:61760400-61780400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:61760600-61769400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:61760600-61770400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:61761000-61777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:61761000-61778600	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:61761000-61780600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr8:61761200-61769800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr8:61762200-61770400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:61762200-61770400	Strong transcription	Hela-S3	cervix
42	chr8:61762200-61776200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:61762400-61779400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:61762600-61772400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr8:61763200-61772200	Strong transcription	Fetal Thymus	thymus
46	chr8:61764000-61769200	Weak transcription	Fetal Brain Male	brain
47	chr8:61764200-61770400	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr8:61764400-61780400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:61764800-61769400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:61764800-61769600	Strong transcription	Small Intestine	intestine

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