Variant report

Variant	rs703840
Chromosome Location	chr12:57934185-57934186
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57930705..57935401-chr12:58001977..58005950,4	K562	blood:

Variant related genes	Relation type
ENSG00000240771	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1148550	1.00[EUR][1000 genomes]
rs1284467	1.00[EUR][1000 genomes]
rs1679366	1.00[EUR][1000 genomes]
rs2620680	1.00[EUR][1000 genomes]
rs34551572	1.00[MEX][hapmap]
rs537161	1.00[EUR][1000 genomes]
rs59235552	1.00[EUR][1000 genomes]
rs60374392	1.00[EUR][1000 genomes]
rs703833	1.00[EUR][1000 genomes]
rs775325	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs776340	1.00[EUR][1000 genomes]
rs7973639	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
2	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
9	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
10	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57917600-57939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:57918600-57934800	Strong transcription	Osteobl	bone
3	chr12:57918600-57936400	Strong transcription	Brain Inferior Temporal Lobe	brain
4	chr12:57918600-57939600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:57919000-57935600	Strong transcription	Thymus	Thymus
6	chr12:57919000-57937400	Weak transcription	Right Atrium	heart
7	chr12:57919200-57934800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:57919200-57939600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:57919400-57934400	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:57919400-57936200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:57919400-57936200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:57919400-57936400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr12:57919400-57936800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:57919400-57937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:57919400-57939400	Strong transcription	Fetal Stomach	stomach
16	chr12:57919600-57934800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:57919600-57935200	Strong transcription	HepG2	liver
18	chr12:57919600-57936200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:57919800-57935000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:57919800-57937000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:57919800-57937800	Strong transcription	Fetal Intestine Small	intestine
22	chr12:57920000-57936400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:57920000-57937800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:57920200-57934600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:57920200-57936800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:57920200-57937400	Strong transcription	Fetal Brain Female	brain
27	chr12:57920400-57936800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:57920400-57938600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:57920600-57938800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:57920800-57934800	Strong transcription	Brain Germinal Matrix	brain
31	chr12:57920800-57935800	Strong transcription	Fetal Thymus	thymus
32	chr12:57920800-57937000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:57920800-57937200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:57921000-57938800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:57921200-57936000	Strong transcription	Dnd41	blood
36	chr12:57921200-57938600	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:57921400-57939600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr12:57921600-57934800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:57921800-57937400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:57923000-57939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:57923200-57936800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:57923400-57937800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:57924200-57937600	Strong transcription	Placenta	Placenta
44	chr12:57924400-57937400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:57927200-57937200	Weak transcription	Fetal Heart	heart
46	chr12:57927200-57939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:57928400-57937200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:57928400-57937400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:57928400-57937600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:57928400-57939600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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