Variant report

Variant	rs16869130
Chromosome Location	chr8:103127621-103127622
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103125752..103127824-chr8:103128877..103130969,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13250998	1.00[ASN][1000 genomes]
rs13261528	1.00[ASN][1000 genomes]
rs13278875	1.00[ASN][1000 genomes]
rs1465164	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465165	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465166	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869125	0.86[AFR][1000 genomes]
rs16869132	0.89[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17414892	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415702	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415729	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415778	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416694	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496928	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500046	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500151	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500306	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500367	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506740	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506775	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507464	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[ASN][1000 genomes]
rs34356268	1.00[ASN][1000 genomes]
rs35166521	1.00[ASN][1000 genomes]
rs35316247	1.00[ASN][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs4483125	1.00[ASN][1000 genomes]
rs72681127	1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103119200-103135200	Weak transcription	Spleen	Spleen
2	chr8:103120400-103129200	Weak transcription	Pancreas	Pancrea
3	chr8:103120400-103133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:103120400-103133400	Weak transcription	Fetal Brain Female	brain
5	chr8:103120400-103134200	Weak transcription	Lung	lung
6	chr8:103120400-103135400	Weak transcription	Placenta	Placenta
7	chr8:103120800-103129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:103120800-103134200	Weak transcription	Fetal Stomach	stomach
9	chr8:103121400-103131400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:103121600-103133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:103121800-103133200	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:103122800-103127800	Enhancers	Fetal Heart	heart
13	chr8:103123400-103134200	Weak transcription	NHDF-Ad	bronchial
14	chr8:103124800-103133800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:103124800-103134000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:103125000-103129400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:103125600-103133200	Weak transcription	Primary T cells from cord blood	blood
18	chr8:103126200-103128000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:103126600-103131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:103126800-103134200	Weak transcription	Right Atrium	heart
21	chr8:103127000-103130200	Weak transcription	Right Ventricle	heart
22	chr8:103127000-103131400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:103127000-103134200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:103127200-103129000	Weak transcription	Ovary	ovary
25	chr8:103127200-103130000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:103127200-103130400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:103127200-103132400	Weak transcription	Aorta	Aorta
28	chr8:103127200-103132600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:103127200-103132600	Weak transcription	Left Ventricle	heart
30	chr8:103127200-103133200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:103127200-103133400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:103127200-103134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:103127400-103128000	Weak transcription	Fetal Brain Male	brain
34	chr8:103127400-103129400	Weak transcription	Psoas Muscle	Psoas
35	chr8:103127600-103130800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:103127600-103134000	Weak transcription	Fetal Kidney	kidney

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