Variant report

Variant	rs7298005
Chromosome Location	chr12:118848422-118848423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12581553	0.85[EUR][1000 genomes]
rs17625759	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2279833	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56237350	0.87[EUR][1000 genomes]
rs59848754	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7307848	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311865	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7960344	0.87[EUR][1000 genomes]
rs882926	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs955134	0.82[ASN][1000 genomes]
rs956873	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:118816400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:118816800-118855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
9	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
10	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:118817200-118848800	Strong transcription	Dnd41	blood
13	chr12:118817200-118850400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:118817200-118854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:118817200-118854800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:118817200-118855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
19	chr12:118817400-118849800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:118817400-118855000	Strong transcription	Liver	Liver
21	chr12:118817400-118855200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:118817400-118855400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:118819400-118852000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:118822000-118856200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:118823400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:118830000-118856800	Strong transcription	Adipose Nuclei	Adipose
27	chr12:118830600-118848800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:118830800-118857400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:118836200-118856800	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:118837000-118848800	Weak transcription	Psoas Muscle	Psoas
31	chr12:118838200-118855000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:118838600-118854200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:118839200-118854000	Weak transcription	Fetal Heart	heart
34	chr12:118840400-118849600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:118840400-118856000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:118840800-118855000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:118841000-118856200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:118841200-118848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:118841600-118848600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr12:118841600-118848800	Weak transcription	Aorta	Aorta
41	chr12:118841600-118848800	Weak transcription	Right Ventricle	heart
42	chr12:118841800-118848800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:118841800-118848800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:118841800-118848800	Weak transcription	Brain Substantia Nigra	brain
45	chr12:118841800-118848800	Weak transcription	Colonic Mucosa	Colon
46	chr12:118842000-118849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:118842000-118850600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:118843000-118855000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:118843400-118854800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:118843400-118855200	Strong transcription	Fetal Stomach	stomach

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