Variant report

Variant	rs2290586
Chromosome Location	chr8:68107430-68107431
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68106563..68108558-chr8:68112555..68114203,2	K562	blood:
2	chr8:68103791..68106483-chr8:68107302..68110332,3	K562	blood:
3	chr8:68106793..68109723-chr8:68110037..68111833,2	K562	blood:
4	chr8:68103791..68106410-chr8:68107302..68110578,4	K562	blood:

Variant related genes	Relation type
ENSG00000066777	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10091514	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10100536	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11986053	1.00[JPT][hapmap]
rs11986982	1.00[JPT][hapmap]
rs11997404	1.00[JPT][hapmap]
rs1378999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919053	1.00[JPT][hapmap]
rs16933106	0.87[EUR][1000 genomes]
rs16933132	1.00[EUR][1000 genomes]
rs16933139	1.00[JPT][hapmap]
rs16933160	1.00[JPT][hapmap]
rs16933162	1.00[JPT][hapmap]
rs16933170	1.00[JPT][hapmap]
rs16933173	1.00[JPT][hapmap]
rs16933182	1.00[JPT][hapmap]
rs16933190	1.00[JPT][hapmap]
rs16933204	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16933259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933277	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17842082	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290585	1.00[JPT][hapmap]
rs2290587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305672	1.00[JPT][hapmap]
rs2305673	1.00[JPT][hapmap]
rs28417755	0.80[EUR][1000 genomes]
rs28502563	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4072321	0.88[EUR][1000 genomes]
rs4364616	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592015	0.87[EUR][1000 genomes]
rs58904549	0.92[ASN][1000 genomes]
rs61403252	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984568	1.00[JPT][hapmap]
rs6984597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986871	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988019	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6988547	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990298	1.00[JPT][hapmap]
rs6990696	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991974	1.00[JPT][hapmap]
rs6998170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7000650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7003018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7004391	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005014	1.00[EUR][1000 genomes]
rs7008877	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009678	1.00[JPT][hapmap]
rs7018327	1.00[EUR][1000 genomes]
rs7461383	1.00[JPT][hapmap]
rs7812859	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819894	1.00[JPT][hapmap]
rs7819895	1.00[JPT][hapmap]
rs7828748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833956	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7834516	1.00[JPT][hapmap]
rs7841884	1.00[JPT][hapmap]
rs9693185	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised 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	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:68075800-68110800	Weak transcription	HepG2	liver
3	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
4	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:68088200-68110800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:68088200-68111000	Weak transcription	Fetal Kidney	kidney
9	chr8:68088200-68111600	Weak transcription	Gastric	stomach
10	chr8:68088400-68110800	Weak transcription	Pancreas	Pancrea
11	chr8:68088400-68110800	Weak transcription	Thymus	Thymus
12	chr8:68088600-68107600	Weak transcription	Esophagus	oesophagus
13	chr8:68089600-68111800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:68091200-68111600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:68091200-68114600	Weak transcription	Small Intestine	intestine
16	chr8:68091400-68108200	Weak transcription	Fetal Heart	heart
17	chr8:68091400-68112000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:68091800-68110800	Weak transcription	Brain Substantia Nigra	brain
19	chr8:68092000-68110600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:68092600-68111400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:68092800-68110800	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:68093400-68109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:68094800-68111800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:68095000-68108600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:68097400-68133600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:68100800-68152600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:68101200-68117800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:68101200-68130800	Strong transcription	Dnd41	blood
29	chr8:68101200-68144200	Strong transcription	Liver	Liver
30	chr8:68101200-68144800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:68101400-68109200	Strong transcription	K562	blood
32	chr8:68101400-68118000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:68102000-68114200	Strong transcription	HSMM	muscle
34	chr8:68102400-68131400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:68102600-68112400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:68102600-68125000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:68102800-68115800	Strong transcription	NH-A	brain
38	chr8:68102800-68130800	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:68102800-68131400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr8:68103000-68117000	Strong transcription	NHDF-Ad	bronchial
41	chr8:68103000-68124800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:68103000-68140600	Strong transcription	Fetal Intestine Large	intestine
43	chr8:68103000-68151400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:68103200-68116800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:68103400-68130400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:68103600-68107600	Weak transcription	Brain Germinal Matrix	brain
47	chr8:68103600-68108600	Weak transcription	Psoas Muscle	Psoas
48	chr8:68103600-68109600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:68103600-68110800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:68103600-68112200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links