Variant report

Variant	rs6735398
Chromosome Location	chr2:161042603-161042604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs60483927	0.84[AFR][1000 genomes]
rs61402265	0.84[AFR][1000 genomes]
rs6759741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994789	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994799	0.96[AFR][1000 genomes]
rs72996703	0.96[AFR][1000 genomes]
rs73008720	1.00[AMR][1000 genomes]
rs73008728	1.00[AMR][1000 genomes]
rs73008730	1.00[AMR][1000 genomes]
rs73008800	1.00[AMR][1000 genomes]
rs73010545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73012621	1.00[AMR][1000 genomes]
rs7587638	0.84[AFR][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	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
2	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:161027200-161051400	Weak transcription	Gastric	stomach
4	chr2:161029200-161051000	Weak transcription	HSMM	muscle
5	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:161035400-161043800	Weak transcription	HMEC	breast
7	chr2:161037600-161043000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:161038200-161045000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:161038200-161051200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:161038400-161043000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:161038400-161044400	Weak transcription	NHEK	skin
12	chr2:161038400-161050000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:161038400-161050400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:161038400-161051000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:161038400-161051000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:161038400-161051200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:161038800-161042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:161039400-161042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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