Variant report

Variant	rs989569
Chromosome Location	chr8:120634655-120634656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr8:120634439-120634767	HepG2	liver:	n/a	n/a
2	FOXA1	chr8:120634385-120634808	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:120634401-120634781	HepG2	liver:	n/a	n/a
4	EP300	chr8:120634394-120634848	HepG2	liver:	n/a	n/a
5	SP1	chr8:120634373-120634768	HepG2	liver:	n/a	n/a
6	HNF4A	chr8:120634438-120634728	HepG2	liver:	n/a	chr8:120634650-120634663 chr8:120634549-120634564 chr8:120634650-120634663 chr8:120634550-120634562 chr8:120634549-120634564 chr8:120634598-120634606
7	HNF4A	chr8:120634508-120634737	HepG2	liver:	n/a	chr8:120634650-120634663 chr8:120634549-120634564 chr8:120634650-120634663 chr8:120634550-120634562 chr8:120634549-120634564 chr8:120634598-120634606
8	NR2F2	chr8:120634381-120634933	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000253495	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs994392	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
3	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:120618800-120637200	Weak transcription	Fetal Kidney	kidney
6	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
7	chr8:120620200-120639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
9	chr8:120624200-120635400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:120627800-120649200	Weak transcription	NHLF	lung
11	chr8:120628200-120645400	Strong transcription	NHDF-Ad	bronchial
12	chr8:120628600-120637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:120629200-120637000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:120631600-120638800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:120631600-120638800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:120632400-120636200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:120633000-120636200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:120633200-120635400	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:120633200-120636200	Weak transcription	Psoas Muscle	Psoas
20	chr8:120633200-120638800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:120633200-120645400	Weak transcription	Thymus	Thymus
22	chr8:120633400-120647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:120633600-120635200	Strong transcription	Brain Hippocampus Middle	brain
24	chr8:120633600-120635200	Enhancers	HepG2	liver
25	chr8:120633800-120635400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:120633800-120637800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:120633800-120639800	Weak transcription	Left Ventricle	heart
28	chr8:120634000-120635600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:120634000-120635800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:120634200-120635800	Strong transcription	Osteobl	bone
31	chr8:120634400-120634800	Strong transcription	Primary T cells from cord blood	blood
32	chr8:120634400-120634800	Transcr. at gene 5' and 3'	Fetal Lung	lung
33	chr8:120634400-120635200	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr8:120634400-120635200	Strong transcription	Brain Substantia Nigra	brain
35	chr8:120634400-120635400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:120634400-120635400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:120634400-120635400	Strong transcription	Liver	Liver
38	chr8:120634400-120635400	Strong transcription	Brain Anterior Caudate	brain
39	chr8:120634400-120635400	Strong transcription	Fetal Thymus	thymus
40	chr8:120634400-120635400	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:120634600-120635200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:120634600-120635400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:120634600-120635400	Strong transcription	Adipose Nuclei	Adipose
44	chr8:120634600-120635800	Strong transcription	Placenta	Placenta

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