Variant report

Variant	rs28357272
Chromosome Location	chr8:118910142-118910143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17453105	1.00[JPT][hapmap]
rs17453112	1.00[ASN][1000 genomes]
rs17453133	1.00[ASN][1000 genomes]
rs28357267	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28357268	1.00[JPT][hapmap]
rs28357269	1.00[ASN][1000 genomes]
rs28357274	1.00[JPT][hapmap]
rs28357280	1.00[JPT][hapmap]
rs28357282	1.00[JPT][hapmap]
rs28357284	1.00[JPT][hapmap]
rs28357288	1.00[JPT][hapmap]
rs7843728	1.00[JPT][hapmap]
rs7844054	1.00[ASN][1000 genomes]
rs7844255	1.00[JPT][hapmap]

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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
2	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
4	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118905200-118911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:118905200-118912200	Enhancers	Fetal Lung	lung
9	chr8:118905600-118914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:118905800-118911200	Enhancers	Aorta	Aorta
11	chr8:118905800-118911600	Weak transcription	Fetal Brain Male	brain
12	chr8:118906000-118910400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:118906000-118911600	Weak transcription	Fetal Brain Female	brain
14	chr8:118906000-118912200	Weak transcription	Gastric	stomach
15	chr8:118906000-118917600	Enhancers	NHLF	lung
16	chr8:118906600-118915000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:118907200-118915000	Weak transcription	Adipose Nuclei	Adipose
18	chr8:118907400-118910400	Enhancers	Colon Smooth Muscle	Colon
19	chr8:118907400-118910400	Weak transcription	NH-A	brain
20	chr8:118907400-118914600	Weak transcription	HSMM	muscle
21	chr8:118907800-118910400	Enhancers	Fetal Heart	heart
22	chr8:118908000-118918200	Weak transcription	HSMMtube	muscle
23	chr8:118908200-118910600	Weak transcription	HUVEC	blood vessel
24	chr8:118908200-118911800	Enhancers	NHEK	skin
25	chr8:118908200-118913200	Enhancers	Fetal Stomach	stomach
26	chr8:118908200-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:118908800-118910600	Enhancers	Right Atrium	heart
28	chr8:118908800-118911400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:118909000-118910600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:118909000-118910800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:118909000-118912200	Weak transcription	Lung	lung
33	chr8:118909200-118910600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:118909400-118910600	Enhancers	Brain Substantia Nigra	brain
35	chr8:118909400-118913400	Weak transcription	A549	lung
36	chr8:118909600-118910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:118909600-118910400	Weak transcription	Fetal Intestine Small	intestine
38	chr8:118909600-118910600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:118909600-118910600	Weak transcription	Stomach Mucosa	stomach
40	chr8:118909600-118911600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:118909600-118911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:118909600-118911600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:118909600-118911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:118909600-118911800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:118909600-118912800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:118909600-118914600	Weak transcription	Fetal Kidney	kidney
47	chr8:118909600-118914800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:118909600-118917600	Weak transcription	Pancreas	Pancrea
49	chr8:118909600-118922200	Weak transcription	Right Ventricle	heart
50	chr8:118909800-118910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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