Variant report

Variant	rs28360438
Chromosome Location	chr1:171255804-171255805
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16864312	1.00[AFR][1000 genomes]
rs16864332	1.00[AFR][1000 genomes]
rs16864353	0.95[AFR][1000 genomes]
rs16864368	0.89[AFR][1000 genomes]
rs28360417	1.00[AFR][1000 genomes]
rs28360425	1.00[AFR][1000 genomes]
rs28360434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28360435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28384854	1.00[AMR][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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171249200-171262000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:171252000-171258800	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:171253600-171256400	Enhancers	Fetal Intestine Large	intestine
4	chr1:171253800-171260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:171255200-171256000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:171255200-171256000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:171255200-171256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:171255200-171256400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:171255200-171256400	Enhancers	NHEK	skin
10	chr1:171255200-171256600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:171255200-171261200	Enhancers	Fetal Intestine Small	intestine
12	chr1:171255400-171256000	Enhancers	GM12878-XiMat	blood
13	chr1:171255400-171256400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:171255400-171256400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:171255600-171256200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:171255600-171256400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:171255600-171256400	Enhancers	HMEC	breast
18	chr1:171255600-171256400	Enhancers	NHDF-Ad	bronchial
19	chr1:171255800-171256200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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