Variant report

Variant	rs16899942
Chromosome Location	chr8:125673083-125673084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125671685..125674663-chr8:125683736..125685843,2	MCF-7	breast:
2	chr8:125671210..125673860-chr8:125677995..125679854,2	K562	blood:
3	chr8:125672360..125675088-chr8:125677995..125680421,2	K562	blood:
4	chr8:125663706..125665321-chr8:125671326..125673228,2	K562	blood:
5	chr8:125672966..125675048-chr8:125714283..125716564,2	K562	blood:
6	chr8:125671389..125674362-chr8:125674838..125677120,3	K562	blood:
7	chr8:125663736..125665496-chr8:125671253..125674701,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10505447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16899921	1.00[JPT][hapmap]
rs16899925	1.00[JPT][hapmap]
rs16899928	1.00[JPT][hapmap]
rs16899930	1.00[JPT][hapmap]
rs16899933	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374540	1.00[JPT][hapmap]
rs2008250	1.00[JPT][hapmap]
rs41398051	1.00[MEX][hapmap]
rs58439099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7813190	0.86[GIH][hapmap];1.00[JPT][hapmap]
rs7835359	1.00[JPT][hapmap]
rs7838755	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
2	chr8:125666200-125674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125667200-125674400	Enhancers	HepG2	liver
4	chr8:125668600-125674800	Weak transcription	Liver	Liver
5	chr8:125669400-125673400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:125670800-125674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:125671600-125673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:125671800-125673200	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:125671800-125673400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:125671800-125673400	Enhancers	Stomach Mucosa	stomach
11	chr8:125671800-125673400	Enhancers	Dnd41	blood
12	chr8:125671800-125673800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:125671800-125674000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:125671800-125674000	Enhancers	Psoas Muscle	Psoas
15	chr8:125671800-125674000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:125671800-125674200	Enhancers	Fetal Muscle Leg	muscle
17	chr8:125671800-125674200	Enhancers	Left Ventricle	heart
18	chr8:125671800-125674200	Enhancers	Lung	lung
19	chr8:125671800-125674200	Enhancers	Spleen	Spleen
20	chr8:125671800-125674400	Enhancers	Fetal Heart	heart
21	chr8:125671800-125674400	Enhancers	Fetal Thymus	thymus
22	chr8:125671800-125675000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:125671800-125677200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr8:125672000-125673200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:125672000-125673200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:125672000-125673200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr8:125672000-125673200	Enhancers	Colon Smooth Muscle	Colon
28	chr8:125672000-125673200	Enhancers	Fetal Intestine Small	intestine
29	chr8:125672000-125673200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr8:125672000-125673400	Enhancers	Colonic Mucosa	Colon
31	chr8:125672000-125673400	Enhancers	Fetal Lung	lung
32	chr8:125672000-125673400	Enhancers	Thymus	Thymus
33	chr8:125672000-125673400	Enhancers	NHDF-Ad	bronchial
34	chr8:125672000-125674000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:125672000-125674200	Enhancers	Fetal Brain Male	brain
36	chr8:125672200-125673200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:125672200-125673200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:125672200-125673200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:125672200-125673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:125672200-125673200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr8:125672200-125673200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:125672200-125673200	Enhancers	Fetal Intestine Large	intestine
43	chr8:125672200-125673200	Enhancers	Fetal Stomach	stomach
44	chr8:125672200-125673200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:125672200-125673400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:125672200-125673400	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr8:125672200-125674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:125672200-125674000	Enhancers	Esophagus	oesophagus
49	chr8:125672200-125674400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:125672400-125673400	Enhancers	Rectal Smooth Muscle	rectum

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