Variant report

Variant	rs2630777
Chromosome Location	chr12:39051244-39051245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10783318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10783392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10875966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1095572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1095574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1386017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1393536	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1393543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1393544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1601580	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1604559	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1604560	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1684412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17124820	1.00[EUR][1000 genomes]
rs1968901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2171221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653728	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653768	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973073	0.90[EUR][1000 genomes]
rs826843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs826883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs905344	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1045040	chr12:39038114-39084094	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	2 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	chr12:39039400-39053000	Weak transcription	Left Ventricle	heart
2	chr12:39039800-39055800	Weak transcription	Hela-S3	cervix
3	chr12:39044200-39055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:39045200-39055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:39045400-39068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:39046000-39085400	Weak transcription	Aorta	Aorta
7	chr12:39046200-39051400	Weak transcription	Lung	lung
8	chr12:39046200-39055400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:39046200-39055600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:39046800-39080400	Weak transcription	Spleen	Spleen
11	chr12:39047200-39055800	Weak transcription	Ovary	ovary
12	chr12:39047800-39055400	Weak transcription	Liver	Liver
13	chr12:39047800-39055400	Weak transcription	GM12878-XiMat	blood
14	chr12:39048000-39055400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:39048000-39055400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:39048000-39056400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:39050200-39051800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:39050600-39051600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:39050800-39051400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:39051200-39051600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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