Variant report

Variant	rs12315554
Chromosome Location	chr12:8187680-8187681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:8186006..8188471-chr12:8218632..8220476,2	K562	blood:
2	chr12:8169829..8172822-chr12:8186044..8187926,2	K562	blood:
3	chr12:8086985..8090687-chr12:8184864..8188373,3	K562	blood:

Variant related genes	Relation type
ENSG00000059804	Chromatin interaction
ENSG00000255581	Chromatin interaction
ENSG00000171860	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11057000	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11057001	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3782678	0.98[ASN][1000 genomes]
rs73244571	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1797934	chr12:7985460-8214261	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS 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 target site	82 gene(s)	inside rSNPs	diseases
9	nsv541384	chr12:8003214-8188846	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv1040972	chr12:8003413-8266291	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	nsv541388	chr12:8003413-8266291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
13	esv2751118	chr12:8017473-8190206	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv898729	chr12:8044997-8190206	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv1045521	chr12:8123225-8242846	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
16	nsv898732	chr12:8123306-8190206	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
18	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8184600-8189000	Active TSS	Aorta	Aorta
2	chr12:8184800-8188200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:8185600-8187800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr12:8185600-8188000	Flanking Active TSS	Colonic Mucosa	Colon
5	chr12:8185600-8188400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr12:8185600-8188600	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:8185800-8187800	Flanking Active TSS	Fetal Brain Male	brain
8	chr12:8185800-8188000	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr12:8185800-8188600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:8185800-8188600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:8185800-8188800	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr12:8185800-8189400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr12:8186000-8187800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr12:8186000-8187800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:8186000-8187800	Flanking Active TSS	Fetal Brain Female	brain
16	chr12:8186000-8187800	Flanking Active TSS	K562	blood
17	chr12:8186000-8188000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr12:8186000-8188000	Flanking Active TSS	Hela-S3	cervix
19	chr12:8186000-8188200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr12:8186000-8188200	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:8186000-8188400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:8186000-8188600	Flanking Active TSS	Psoas Muscle	Psoas
23	chr12:8186200-8187800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:8186200-8187800	Flanking Active TSS	Fetal Lung	lung
25	chr12:8186200-8188000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:8186200-8188000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:8186200-8188000	Flanking Active TSS	Stomach Mucosa	stomach
28	chr12:8186200-8188400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:8186200-8188400	Flanking Active TSS	Osteobl	bone
30	chr12:8186200-8188600	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr12:8186200-8188600	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr12:8186200-8189200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:8186200-8189400	Flanking Active TSS	Fetal Heart	heart
34	chr12:8186200-8191400	Enhancers	Small Intestine	intestine
35	chr12:8186400-8188400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr12:8186400-8188400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr12:8186400-8188400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:8186400-8191000	Enhancers	Spleen	Spleen
39	chr12:8186600-8188400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:8186600-8188400	Enhancers	Esophagus	oesophagus
41	chr12:8186600-8188400	Transcr. at gene 5' and 3'	Dnd41	blood
42	chr12:8186600-8188600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:8186600-8189200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:8186600-8191800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:8186600-8192800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:8186800-8188000	Flanking Active TSS	Ovary	ovary
47	chr12:8186800-8188200	Enhancers	Fetal Intestine Large	intestine
48	chr12:8186800-8188400	Flanking Active TSS	NHLF	lung
49	chr12:8186800-8188600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:8186800-8189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links