Variant report

Variant	rs16841323
Chromosome Location	chr1:227793649-227793650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227789234..227791365-chr1:227793574..227795115,2	K562	blood:
2	chr1:227788387..227792001-chr1:227793458..227797265,5	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12563117	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs12563564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564929	1.00[EUR][1000 genomes]
rs12565099	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565109	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12565618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566716	1.00[EUR][1000 genomes]
rs12566948	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12567084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12568707	1.00[EUR][1000 genomes]
rs1323021	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16847912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819523	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59461077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090938	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	1.00[ASN][1000 genomes]
rs73090985	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73091000	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092607	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7533013	0.87[ASN][1000 genomes]
rs7546845	0.87[ASN][1000 genomes]
rs7554851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[ASN][1000 genomes]
rs996226	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227774800-227799200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:227774800-227805000	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:227779200-227799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227781200-227800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:227784000-227798800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:227784000-227799600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:227784200-227793800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:227784200-227797800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:227784400-227794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:227790800-227801800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227791000-227799600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:227791200-227796400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:227791400-227793800	Weak transcription	Left Ventricle	heart
16	chr1:227791400-227793800	Weak transcription	Right Atrium	heart
17	chr1:227791400-227793800	Weak transcription	Right Ventricle	heart
18	chr1:227791400-227798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:227791400-227798200	Weak transcription	Gastric	stomach
20	chr1:227791400-227799200	Weak transcription	Ovary	ovary
21	chr1:227791400-227799600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:227791400-227801000	Weak transcription	Psoas Muscle	Psoas
23	chr1:227792000-227798800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:227792400-227798000	Weak transcription	Fetal Lung	lung
25	chr1:227792600-227799600	Weak transcription	Thymus	Thymus
26	chr1:227792800-227798400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:227793600-227794400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr1:227793600-227794400	ZNF genes & repeats	Fetal Stomach	stomach
29	chr1:227793600-227794600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:227793600-227795200	Enhancers	Fetal Heart	heart

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