Variant report

Variant	rs6760038
Chromosome Location	chr2:53888154-53888155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
2	chr2:53887538..53889702-chr2:53894811..53897627,2	K562	blood:
3	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10168388	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10179403	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10180492	1.00[ASN][1000 genomes]
rs10205469	1.00[ASN][1000 genomes]
rs10209918	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382257	1.00[ASN][1000 genomes]
rs13387291	1.00[ASN][1000 genomes]
rs13408425	1.00[ASN][1000 genomes]
rs17045242	1.00[ASN][1000 genomes]
rs2177791	1.00[ASN][1000 genomes]
rs2177792	1.00[ASN][1000 genomes]
rs28391754	1.00[ASN][1000 genomes]
rs6545367	1.00[ASN][1000 genomes]
rs6545369	1.00[ASN][1000 genomes]
rs6712561	1.00[ASN][1000 genomes]
rs6740063	1.00[ASN][1000 genomes]
rs6759437	1.00[ASN][1000 genomes]
rs724387	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72902931	1.00[ASN][1000 genomes]
rs7565152	1.00[ASN][1000 genomes]
rs7567225	1.00[ASN][1000 genomes]
rs7594327	1.00[ASN][1000 genomes]
rs7608989	1.00[ASN][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	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv984439	chr2:53861720-53955437	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53874200-53935000	Weak transcription	Pancreas	Pancrea
2	chr2:53879400-53895600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:53881200-53895800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:53881400-53934400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:53881800-53896400	Weak transcription	Aorta	Aorta
6	chr2:53882600-53888200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:53882600-53894000	Weak transcription	Fetal Stomach	stomach
8	chr2:53882800-53895600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:53883200-53897800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:53883600-53896600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:53885000-53895800	Weak transcription	Dnd41	blood
12	chr2:53885600-53925000	Weak transcription	Fetal Intestine Small	intestine
13	chr2:53885800-53911800	Weak transcription	Adipose Nuclei	Adipose
14	chr2:53886600-53896400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:53887000-53895400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:53887000-53898000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:53887400-53889400	Weak transcription	Psoas Muscle	Psoas
18	chr2:53887800-53899800	Weak transcription	Primary B cells from cord blood	blood
19	chr2:53888000-53888200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:53888000-53888400	Enhancers	Fetal Brain Female	brain

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