Variant report

Variant	rs12697705
Chromosome Location	chr5:80799975-80799976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80797821..80800021-chr5:80804544..80806893,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10035291	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10036712	0.82[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];0.91[ASN][1000 genomes]
rs10041030	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10042201	0.82[CHB][hapmap]
rs10042303	0.90[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10056711	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10068144	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075648	0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10474031	0.87[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10942266	0.92[ASN][1000 genomes]
rs10942269	0.81[ASW][hapmap]
rs11739075	0.87[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740719	0.91[CHB][hapmap]
rs11949697	0.91[CHB][hapmap]
rs12153000	0.86[JPT][hapmap]
rs13159500	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13171682	0.89[ASN][1000 genomes]
rs1541830	0.83[ASW][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs2162973	0.83[ASW][hapmap];0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2396170	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35224297	0.86[ASN][1000 genomes]
rs3805726	0.91[CHB][hapmap]
rs4392600	0.81[ASW][hapmap]
rs4513668	0.81[ASW][hapmap]
rs6452407	0.86[ASN][1000 genomes]
rs6452410	0.87[ASN][1000 genomes]
rs6452411	0.87[JPT][hapmap]
rs6452412	0.87[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6452414	0.93[JPT][hapmap]
rs6452415	0.87[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6452416	0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6865796	0.86[CEU][hapmap]
rs6866156	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6866727	0.87[CEU][hapmap]
rs6867426	0.81[ASN][1000 genomes]
rs6868422	0.83[ASW][hapmap];0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6868748	0.83[ASW][hapmap];0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6869288	0.81[ASN][1000 genomes]
rs6872775	0.87[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6872793	0.86[ASN][1000 genomes]
rs6874029	0.81[ASW][hapmap]
rs6877102	0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6878037	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs6883488	0.82[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6887937	0.86[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs6890850	0.81[ASN][1000 genomes]
rs6897189	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702047	0.81[ASW][hapmap];0.81[ASN][1000 genomes]
rs7702374	0.87[CEU][hapmap]
rs7711020	0.83[ASW][hapmap];0.86[CEU][hapmap];0.87[ASN][1000 genomes]
rs7719373	0.83[ASW][hapmap];0.85[CEU][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7720123	0.81[ASN][1000 genomes]
rs7725126	0.86[ASN][1000 genomes]
rs7733938	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7737895	0.86[CEU][hapmap]
rs9293275	0.93[JPT][hapmap]
rs9596	0.83[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs964102	0.81[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs9918175	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
3	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:80770000-80801600	Weak transcription	NHLF	lung
5	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
6	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
8	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:80770400-80801600	Weak transcription	Ovary	ovary
10	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
11	chr5:80778800-80800400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
14	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:80779200-80801800	Weak transcription	Fetal Heart	heart
16	chr5:80782800-80801000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:80783000-80801400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:80788400-80801600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:80791400-80801400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:80793200-80801600	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:80795400-80801800	Weak transcription	Fetal Lung	lung
22	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:80797400-80801600	Weak transcription	Adipose Nuclei	Adipose
24	chr5:80797600-80800600	Strong transcription	Fetal Thymus	thymus
25	chr5:80797800-80802000	Strong transcription	Dnd41	blood
26	chr5:80798200-80818000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:80798400-80801400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:80798400-80801600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:80798400-80802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:80798400-80820000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:80798400-80821400	Weak transcription	Thymus	Thymus
32	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:80799000-80800200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:80799400-80802400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:80799600-80802800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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