Variant report

Variant	rs73099152
Chromosome Location	chr12:39114978-39114979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11833356	1.00[EUR][1000 genomes]
rs73084092	1.00[EUR][1000 genomes]
rs73086062	1.00[EUR][1000 genomes]
rs73086069	1.00[EUR][1000 genomes]
rs73086073	1.00[EUR][1000 genomes]
rs73089546	1.00[EUR][1000 genomes]
rs73089548	1.00[EUR][1000 genomes]
rs73093107	1.00[EUR][1000 genomes]
rs73095544	1.00[EUR][1000 genomes]
rs73095547	1.00[EUR][1000 genomes]
rs73095569	1.00[EUR][1000 genomes]
rs73095574	1.00[EUR][1000 genomes]
rs73098759	1.00[EUR][1000 genomes]
rs73098760	1.00[EUR][1000 genomes]
rs73098780	1.00[EUR][1000 genomes]
rs73099111	1.00[EUR][1000 genomes]
rs73099166	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099178	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100706	1.00[EUR][1000 genomes]
rs73107159	1.00[EUR][1000 genomes]
rs73107183	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73107196	1.00[EUR][1000 genomes]
rs73107199	1.00[EUR][1000 genomes]
rs73109203	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73110570	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
2	chr12:39080600-39115600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:39092600-39153600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:39095800-39117800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:39109800-39116800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:39110800-39119800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:39111000-39115600	Weak transcription	GM12878-XiMat	blood
8	chr12:39111400-39115200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:39111800-39119400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:39112400-39115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:39112400-39118400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:39113000-39117200	Weak transcription	Colonic Mucosa	Colon
13	chr12:39113200-39116000	Strong transcription	Left Ventricle	heart
14	chr12:39113400-39115400	Weak transcription	Ovary	ovary
15	chr12:39113800-39115400	Weak transcription	Fetal Intestine Large	intestine
16	chr12:39113800-39117000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:39113800-39117600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:39113800-39118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:39113800-39123800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:39114000-39115600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:39114000-39115800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:39114000-39115800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:39114000-39117200	Weak transcription	Fetal Stomach	stomach
24	chr12:39114000-39118400	Strong transcription	Liver	Liver
25	chr12:39114200-39115800	Strong transcription	Right Ventricle	heart
26	chr12:39114200-39133600	Weak transcription	A549	lung
27	chr12:39114400-39115600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:39114400-39115600	Strong transcription	Pancreas	Pancrea
29	chr12:39114400-39116000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:39114400-39116000	Strong transcription	Aorta	Aorta
31	chr12:39114400-39124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:39114600-39115400	Strong transcription	Spleen	Spleen
33	chr12:39114600-39115800	ZNF genes & repeats	Gastric	stomach
34	chr12:39114600-39116000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:39114600-39116000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:39114600-39116400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:39114600-39116400	Strong transcription	Esophagus	oesophagus
38	chr12:39114600-39116400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr12:39114600-39116800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:39114600-39117000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:39114600-39117600	Strong transcription	Adipose Nuclei	Adipose
42	chr12:39114800-39115800	ZNF genes & repeats	Lung	lung
43	chr12:39114800-39115800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:39114800-39116600	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:39114800-39117600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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