Variant report

Variant	rs12807541
Chromosome Location	chr11:120064501-120064502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120059739..120061445-chr11:120064333..120066641,2	K562	blood:
2	chr11:120064484..120070047-chr11:120078272..120084162,6	MCF-7	breast:
3	chr11:120064296..120065942-chr11:120081453..120083243,2	K562	blood:

Variant related genes	Relation type
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12790585	0.80[AMR][1000 genomes]
rs12791282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791393	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12792820	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12795599	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12799647	0.82[AMR][1000 genomes]
rs12800456	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802402	0.82[AMR][1000 genomes]
rs12802652	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12807240	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808627	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12808972	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2076765	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35652094	0.81[EUR][1000 genomes]
rs880487	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120056000-120064600	Enhancers	Fetal Stomach	stomach
2	chr11:120058000-120068800	Weak transcription	Right Atrium	heart
3	chr11:120058200-120068200	Weak transcription	Spleen	Spleen
4	chr11:120058400-120066400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:120058400-120066600	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:120058400-120066800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:120059400-120067200	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:120060000-120067400	Weak transcription	Right Ventricle	heart
9	chr11:120061400-120064600	Enhancers	Fetal Intestine Large	intestine
10	chr11:120062200-120065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:120062200-120073600	Enhancers	Fetal Intestine Small	intestine
12	chr11:120062600-120066400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:120063000-120064600	Enhancers	Ovary	ovary
14	chr11:120063000-120064600	Enhancers	Pancreas	Pancrea
15	chr11:120063200-120065800	Weak transcription	Fetal Kidney	kidney
16	chr11:120063200-120066000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:120063200-120066400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:120063600-120064600	Flanking Active TSS	HepG2	liver
19	chr11:120063800-120064600	Enhancers	Colonic Mucosa	Colon
20	chr11:120064000-120066200	Weak transcription	Fetal Brain Male	brain
21	chr11:120064200-120064600	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:120064200-120066400	Weak transcription	Fetal Lung	lung
23	chr11:120064200-120070400	Enhancers	Fetal Muscle Leg	muscle
24	chr11:120064400-120065200	Enhancers	Liver	Liver
25	chr11:120064400-120065600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:120064400-120065800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr11:120064400-120066400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:120064400-120066400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:120064400-120067200	Weak transcription	Small Intestine	intestine
30	chr11:120064400-120070200	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links