Variant report

Variant	rs35168272
Chromosome Location	chr8:61695705-61695706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10106752	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1017861	0.83[EUR][1000 genomes]
rs1017862	0.83[EUR][1000 genomes]
rs10283352	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13280978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473446	0.89[ASN][1000 genomes]
rs1483208	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28609390	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28710955	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4237036	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4288413	0.95[ASN][1000 genomes]
rs4738826	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738828	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4738829	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7011801	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs876957	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs900504	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	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	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	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
4	nsv1022801	chr8:61623974-61738067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539632	chr8:61623974-61738067	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1797364	chr8:61658362-61696231	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61680000-61698600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:61680200-61696200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:61680200-61704200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:61680200-61705200	Weak transcription	Esophagus	oesophagus
5	chr8:61680200-61710400	Weak transcription	Pancreas	Pancrea
6	chr8:61681200-61696200	Weak transcription	Right Ventricle	heart
7	chr8:61681200-61698600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:61681200-61700400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:61681200-61705200	Weak transcription	Spleen	Spleen
10	chr8:61682200-61705200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:61683600-61711200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:61683800-61695800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:61685200-61704200	Weak transcription	Small Intestine	intestine
14	chr8:61686000-61698600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:61687200-61704200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:61687200-61704200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:61687200-61720400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:61687400-61704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:61688800-61719600	Weak transcription	NHEK	skin
20	chr8:61689400-61702600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:61690000-61695800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:61690000-61696000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:61690000-61705200	Weak transcription	Psoas Muscle	Psoas
24	chr8:61690200-61705200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:61690400-61696400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:61691200-61695800	Weak transcription	Fetal Brain Female	brain
27	chr8:61691200-61703600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:61691200-61742800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:61691400-61695800	Weak transcription	Brain Anterior Caudate	brain
30	chr8:61691800-61705200	Weak transcription	Colonic Mucosa	Colon
31	chr8:61692000-61696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:61692200-61698800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:61692200-61719400	Weak transcription	HMEC	breast
34	chr8:61692400-61696000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:61692600-61699400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:61692800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:61693000-61704200	Weak transcription	Fetal Kidney	kidney
38	chr8:61693400-61695800	Strong transcription	Hela-S3	cervix
39	chr8:61693600-61696400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:61693600-61697200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:61693600-61697800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:61693600-61698200	Strong transcription	Dnd41	blood
43	chr8:61693800-61697200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:61693800-61697600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:61694000-61695800	Weak transcription	NH-A	brain
46	chr8:61694000-61696000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:61694000-61697400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:61694000-61697400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:61694000-61703800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr8:61694000-61705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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