Variant report

Variant	rs3014269
Chromosome Location	chr1:227539205-227539206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227538699..227541484-chr1:227541523..227544732,3	K562	blood:
2	chr1:227538792..227542003-chr1:227542964..227545271,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12128753	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3014255	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4653815	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs60268962	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227538400-227541200	Enhancers	HUVEC	blood vessel
2	chr1:227538600-227540600	Enhancers	Left Ventricle	heart
3	chr1:227538600-227540800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:227538600-227540800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:227538800-227539400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:227538800-227539600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:227538800-227539600	Enhancers	Brain Hippocampus Middle	brain
8	chr1:227538800-227539600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:227538800-227539600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:227538800-227539600	Enhancers	NH-A	brain
11	chr1:227538800-227539800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:227538800-227539800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:227538800-227539800	Enhancers	A549	lung
14	chr1:227538800-227540600	Enhancers	Adipose Nuclei	Adipose
15	chr1:227539000-227539400	Enhancers	Brain Angular Gyrus	brain
16	chr1:227539000-227539400	Enhancers	Right Atrium	heart
17	chr1:227539000-227539400	Enhancers	Right Ventricle	heart
18	chr1:227539000-227539600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:227539000-227539600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:227539000-227539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:227539000-227539600	Enhancers	HMEC	breast
22	chr1:227539000-227539600	Enhancers	HSMM	muscle
23	chr1:227539000-227539600	Enhancers	NHDF-Ad	bronchial
24	chr1:227539000-227539600	Enhancers	NHEK	skin
25	chr1:227539000-227539600	Enhancers	NHLF	lung
26	chr1:227539000-227539800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:227539000-227539800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:227539000-227539800	Enhancers	Hela-S3	cervix
29	chr1:227539000-227539800	Enhancers	HSMMtube	muscle
30	chr1:227539000-227540400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:227539200-227539400	Enhancers	Lung	lung
32	chr1:227539200-227539600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:227539200-227539600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:227539200-227539600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:227539200-227539600	Enhancers	Osteobl	bone
36	chr1:227539200-227540400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:227539200-227545000	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links