Variant report

Variant	rs16869417
Chromosome Location	chr8:103394543-103394544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103378550..103380517-chr8:103393852..103396519,2	K562	blood:
2	chr8:103394320..103397702-chr8:103611755..103614575,3	MCF-7	breast:
3	chr8:103393395..103395739-chr8:103396622..103399567,3	K562	blood:
4	chr8:103373687..103375322-chr8:103392779..103395530,2	MCF-7	breast:
5	chr8:103385007..103388103-chr8:103392902..103395894,3	MCF-7	breast:
6	chr8:103393946..103397618-chr8:103423200..103426543,6	MCF-7	breast:
7	chr8:103386862..103390311-chr8:103391169..103396549,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1037699	0.81[ASN][1000 genomes]
rs1037700	0.81[ASN][1000 genomes]
rs11774038	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780954	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11780975	0.86[EUR][1000 genomes]
rs11781662	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11782557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11784155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259118	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13266055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13267660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270916	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13273642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280613	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16869362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2305832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28973252	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28998469	0.81[ASN][1000 genomes]
rs34002127	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34609465	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34694718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34837214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34852161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35090306	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35101027	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35368426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35537579	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35624360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35769335	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35771800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735723	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71518855	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518860	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73698742	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840355	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7843178	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[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	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
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103395200	Weak transcription	Fetal Brain Female	brain
3	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
4	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
6	chr8:103373000-103395000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:103373000-103395400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
10	chr8:103373600-103394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:103380200-103397800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr8:103381000-103394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:103381000-103395200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:103381000-103395200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:103381000-103395200	Weak transcription	Fetal Thymus	thymus
16	chr8:103381000-103395400	Weak transcription	Fetal Stomach	stomach
17	chr8:103381000-103396000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:103381000-103398400	Weak transcription	Fetal Intestine Small	intestine
19	chr8:103384200-103411600	Weak transcription	Lung	lung
20	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:103387000-103402800	Weak transcription	Dnd41	blood
22	chr8:103388200-103395200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
24	chr8:103388400-103394600	Weak transcription	HSMM	muscle
25	chr8:103388400-103394600	Weak transcription	NHDF-Ad	bronchial
26	chr8:103388400-103394800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:103388400-103395000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:103388400-103395200	Weak transcription	Placenta	Placenta
29	chr8:103388400-103398400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:103388600-103396400	Weak transcription	HepG2	liver
33	chr8:103388800-103400000	Weak transcription	HUVEC	blood vessel
34	chr8:103389400-103394600	Weak transcription	Fetal Heart	heart
35	chr8:103389400-103394800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:103389400-103395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:103389400-103395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:103389600-103394800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:103390000-103394800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:103390000-103397800	Weak transcription	Esophagus	oesophagus
41	chr8:103390200-103395200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:103391600-103395000	Weak transcription	Primary B cells from cord blood	blood
43	chr8:103391800-103395200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:103392000-103397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:103392200-103394800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:103392200-103395200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:103392600-103395600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:103393000-103395200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:103393000-103395400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:103393000-103397600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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