Variant report

Variant	rs1986677
Chromosome Location	chr8:10223430-10223431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11249992	0.86[CHD][hapmap]
rs11249993	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11249994	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs11783514	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11989029	0.83[JPT][hapmap]
rs11997177	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12544727	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13272232	0.81[ASN][1000 genomes]
rs13273009	0.94[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs17151824	0.91[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17151892	0.88[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17151898	0.87[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17151899	0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs17151903	0.87[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2001365	0.88[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs60937041	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601447	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601449	0.82[ASN][1000 genomes]
rs7015455	0.82[ASN][1000 genomes]
rs7840461	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7842443	0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[ASN][1000 genomes]
rs9657539	0.87[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10193000-10235000	Weak transcription	Pancreas	Pancrea
3	chr8:10196800-10228000	Weak transcription	Liver	Liver
4	chr8:10217600-10226400	Enhancers	Fetal Brain Male	brain
5	chr8:10219400-10224600	Enhancers	Fetal Muscle Leg	muscle
6	chr8:10220000-10224400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:10220400-10226600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:10220800-10228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:10221000-10235200	Weak transcription	Right Ventricle	heart
10	chr8:10221200-10228200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:10221200-10229200	Weak transcription	Brain Angular Gyrus	brain
12	chr8:10221600-10224000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:10221600-10224000	Enhancers	Stomach Smooth Muscle	stomach
14	chr8:10221600-10224400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:10221800-10223600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:10221800-10223600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:10221800-10223600	Enhancers	Fetal Lung	lung
18	chr8:10221800-10223800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:10222000-10223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:10222000-10223600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:10222000-10223800	Enhancers	Colon Smooth Muscle	Colon
22	chr8:10222000-10223800	Weak transcription	Spleen	Spleen
23	chr8:10222000-10223800	Enhancers	NH-A	brain
24	chr8:10222000-10223800	Enhancers	NHDF-Ad	bronchial
25	chr8:10222000-10224200	Enhancers	Fetal Heart	heart
26	chr8:10222200-10223600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:10222200-10223800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:10222200-10224000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:10222200-10224600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:10222200-10227000	Enhancers	HSMM	muscle
31	chr8:10222200-10230000	Weak transcription	Primary T cells from cord blood	blood
32	chr8:10222400-10224000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:10222400-10224000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:10222400-10226400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:10222600-10227400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:10222800-10224000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:10222800-10224000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:10222800-10224200	Enhancers	Brain Anterior Caudate	brain
39	chr8:10222800-10224600	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:10223000-10224000	Enhancers	Left Ventricle	heart
41	chr8:10223000-10224200	Enhancers	Brain Germinal Matrix	brain
42	chr8:10223000-10224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:10223200-10223600	Flanking Active TSS	Fetal Brain Female	brain
44	chr8:10223200-10223600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:10223200-10223800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:10223200-10223800	Enhancers	Right Atrium	heart
47	chr8:10223200-10224000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:10223200-10224200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:10223200-10224200	Enhancers	HMEC	breast
50	chr8:10223200-10224400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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