Variant report

Variant	rs9918175
Chromosome Location	chr5:80779399-80779400
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	chr5:80774641..80776588-chr5:80777799..80779844,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10041030	0.82[CEU][hapmap]
rs10075648	0.90[CEU][hapmap]
rs10474031	0.90[CEU][hapmap]
rs11739075	0.90[CEU][hapmap]
rs11742106	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12697705	0.86[CEU][hapmap]
rs13159596	0.91[ASN][1000 genomes]
rs13165194	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2162973	0.90[CEU][hapmap]
rs34672841	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35663154	0.91[ASN][1000 genomes]
rs35810595	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856763	0.82[ASN][1000 genomes]
rs35883849	0.93[ASN][1000 genomes]
rs35995231	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764986	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792923	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366209	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366246	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452409	0.86[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452412	0.90[CEU][hapmap]
rs6452415	0.90[CEU][hapmap]
rs66563423	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868422	0.90[CEU][hapmap]
rs6868748	0.90[CEU][hapmap]
rs6872775	0.90[CEU][hapmap]
rs6877102	0.90[CEU][hapmap]
rs6887937	0.90[CEU][hapmap]
rs6894847	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895015	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896009	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897189	0.81[CEU][hapmap]
rs7702374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711020	0.90[CEU][hapmap]
rs7719373	0.89[CEU][hapmap]
rs7725131	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7725277	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737895	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

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:45 , 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	chr5:80769800-80779600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:80770000-80779400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:80770000-80781000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:80770000-80782600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:80770000-80787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:80770000-80789000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:80770000-80790400	Weak transcription	Right Ventricle	heart
9	chr5:80770000-80797800	Weak transcription	GM12878-XiMat	blood
10	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:80770000-80801600	Weak transcription	NHLF	lung
13	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
14	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
16	chr5:80770200-80782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:80770200-80782600	Weak transcription	Adipose Nuclei	Adipose
18	chr5:80770200-80784200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:80770200-80794800	Weak transcription	Fetal Brain Female	brain
20	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:80770400-80779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:80770400-80781400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:80770400-80793600	Weak transcription	Brain Germinal Matrix	brain
24	chr5:80770400-80801600	Weak transcription	Ovary	ovary
25	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
26	chr5:80771000-80780200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:80771200-80799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:80773400-80786600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:80776200-80780000	Strong transcription	Fetal Thymus	thymus
30	chr5:80777800-80784000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:80778000-80781200	Strong transcription	Dnd41	blood
32	chr5:80778400-80797800	Weak transcription	Thymus	Thymus
33	chr5:80778800-80789600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:80778800-80797800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:80778800-80797800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:80778800-80797800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:80778800-80800400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:80779000-80785000	Weak transcription	Aorta	Aorta
39	chr5:80779000-80794800	Weak transcription	Fetal Lung	lung
40	chr5:80779000-80798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:80779000-80809600	Weak transcription	Primary T cells from cord blood	blood
42	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
43	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:80779200-80779600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:80779200-80801800	Weak transcription	Fetal Heart	heart

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