Variant report

Variant	rs12081893
Chromosome Location	chr1:169316642-169316643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10919089	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10919142	1.00[EUR][1000 genomes]
rs10919161	1.00[EUR][1000 genomes]
rs10919171	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12068499	1.00[EUR][1000 genomes]
rs12071302	1.00[EUR][1000 genomes]
rs12073238	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078569	1.00[YRI][hapmap]
rs12083695	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12086569	1.00[EUR][1000 genomes]
rs12088527	1.00[EUR][1000 genomes]
rs12088713	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12091844	0.91[YRI][hapmap]
rs12095660	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16862184	1.00[EUR][1000 genomes]
rs16862197	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3737683	0.85[YRI][hapmap]
rs975991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
2	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169303800-169317600	Weak transcription	Liver	Liver
5	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
6	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:169309400-169336400	Weak transcription	Ovary	ovary
8	chr1:169310600-169316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:169311000-169336400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:169313600-169317000	Enhancers	Fetal Intestine Large	intestine
12	chr1:169314800-169318200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:169316000-169334200	Weak transcription	Fetal Intestine Small	intestine
14	chr1:169316400-169321800	Weak transcription	HUVEC	blood vessel
15	chr1:169316600-169318000	Enhancers	Fetal Brain Male	brain
16	chr1:169316600-169318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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