Variant report

Variant	rs72968654
Chromosome Location	chr3:118709048-118709049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs28392691	1.00[AMR][1000 genomes]
rs28673055	0.80[AFR][1000 genomes]
rs58420381	1.00[AMR][1000 genomes]
rs6768020	1.00[AMR][1000 genomes]
rs6796798	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966899	1.00[AMR][1000 genomes]
rs72968606	1.00[AMR][1000 genomes]
rs72968612	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72968632	1.00[AMR][1000 genomes]
rs72970438	1.00[AMR][1000 genomes]
rs72970470	1.00[AMR][1000 genomes]
rs72970472	1.00[AMR][1000 genomes]
rs7623832	1.00[AMR][1000 genomes]
rs7624134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7625109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9289118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9814712	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9817851	0.92[AFR][1000 genomes]
rs9826100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9827711	1.00[AMR][1000 genomes]
rs9835052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9840552	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9841148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9847137	1.00[AMR][1000 genomes]
rs9848498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9854365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9857367	1.00[AMR][1000 genomes]
rs9859319	1.00[AMR][1000 genomes]
rs9862313	1.00[AMR][1000 genomes]
rs9862556	1.00[AMR][1000 genomes]
rs9876041	1.00[AMR][1000 genomes]
rs9882006	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv1010475	chr3:118657382-118789714	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877369	chr3:118681771-118824418	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2756586	chr3:118688611-118863998	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118701600-118709800	Enhancers	Brain Anterior Caudate	brain
2	chr3:118702200-118710600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:118703600-118710000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:118704200-118710000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:118704400-118710200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:118706200-118709800	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:118706400-118709200	Enhancers	Brain Substantia Nigra	brain
8	chr3:118706800-118709200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:118706800-118709600	Enhancers	Brain Hippocampus Middle	brain
10	chr3:118707600-118709800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:118707600-118709800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:118707600-118710200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:118707600-118714800	Weak transcription	Pancreas	Pancrea
14	chr3:118707800-118709600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:118707800-118709800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:118707800-118710000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:118707800-118710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:118707800-118710800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:118708000-118711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:118708200-118709400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:118708200-118710600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:118708200-118711400	Weak transcription	Ovary	ovary
23	chr3:118708800-118709600	Enhancers	Brain Angular Gyrus	brain
24	chr3:118708800-118710000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:118708800-118710200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:118708800-118710200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr3:118709000-118709200	Enhancers	Brain Germinal Matrix	brain
28	chr3:118709000-118709200	Enhancers	Fetal Brain Male	brain
29	chr3:118709000-118709200	Enhancers	Fetal Lung	lung
30	chr3:118709000-118709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:118709000-118709800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links