Variant report

Variant	rs994392
Chromosome Location	chr8:120631618-120631619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16892841	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs989569	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
4	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
5	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:120618600-120632800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:120618800-120632800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:120618800-120637200	Weak transcription	Fetal Kidney	kidney
10	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:120620200-120639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:120621200-120634400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
14	chr8:120622000-120633000	Weak transcription	Right Atrium	heart
15	chr8:120624000-120633000	Weak transcription	Left Ventricle	heart
16	chr8:120624200-120635400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:120624800-120633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:120627800-120631800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:120627800-120632800	Weak transcription	HMEC	breast
20	chr8:120627800-120633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:120627800-120633400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:120627800-120649200	Weak transcription	NHLF	lung
23	chr8:120628000-120634400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:120628200-120633200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:120628200-120645400	Strong transcription	NHDF-Ad	bronchial
26	chr8:120628600-120637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:120629200-120637000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:120629800-120634400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:120630000-120633000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:120630400-120632600	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:120630600-120631800	Enhancers	GM12878-XiMat	blood
32	chr8:120630600-120632400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:120630600-120632600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:120630600-120633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:120630600-120633200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:120630800-120631800	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:120630800-120633200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:120630800-120634400	Weak transcription	Liver	Liver
39	chr8:120630800-120634600	Weak transcription	Placenta	Placenta
40	chr8:120631000-120634400	Weak transcription	Brain Anterior Caudate	brain
41	chr8:120631400-120632600	Enhancers	Primary B cells from cord blood	blood
42	chr8:120631400-120632600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:120631400-120633000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:120631400-120633200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:120631600-120631800	Enhancers	Fetal Lung	lung
46	chr8:120631600-120633000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:120631600-120633000	Weak transcription	Osteobl	bone
48	chr8:120631600-120638800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:120631600-120638800	Weak transcription	Monocytes-CD14+_RO01746	blood

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