Variant report

Variant	rs10474030
Chromosome Location	chr5:80778171-80778172
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10044074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16898954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28718252	0.87[ASN][1000 genomes]
rs3805725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56267544	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60975727	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872789	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73132098	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732320	1.00[CHB][hapmap]
rs9293274	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
3	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:80769800-80778600	Weak transcription	K562	blood
5	chr5:80769800-80779600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:80770000-80778200	Weak transcription	Primary B cells from cord blood	blood
7	chr5:80770000-80779400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:80770000-80781000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:80770000-80782600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:80770000-80787800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:80770000-80789000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:80770000-80790400	Weak transcription	Right Ventricle	heart
13	chr5:80770000-80797800	Weak transcription	GM12878-XiMat	blood
14	chr5:80770000-80800200	Weak transcription	Brain Anterior Caudate	brain
15	chr5:80770000-80801600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:80770000-80801600	Weak transcription	NHLF	lung
17	chr5:80770000-80803000	Weak transcription	Fetal Kidney	kidney
18	chr5:80770000-80811000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:80770000-80812000	Weak transcription	Left Ventricle	heart
20	chr5:80770200-80782600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:80770200-80782600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:80770200-80784200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:80770200-80794800	Weak transcription	Fetal Brain Female	brain
24	chr5:80770200-80811000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:80770400-80778400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:80770400-80778600	Weak transcription	Primary T cells from cord blood	blood
27	chr5:80770400-80779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:80770400-80781400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:80770400-80793600	Weak transcription	Brain Germinal Matrix	brain
30	chr5:80770400-80801600	Weak transcription	Ovary	ovary
31	chr5:80770400-80808200	Weak transcription	Fetal Stomach	stomach
32	chr5:80771000-80778400	Weak transcription	Fetal Lung	lung
33	chr5:80771000-80780200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:80771200-80799600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:80773200-80778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:80773400-80786600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:80776000-80779200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:80776200-80778800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:80776200-80780000	Strong transcription	Fetal Thymus	thymus
40	chr5:80777600-80778800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:80777600-80779000	Strong transcription	Fetal Muscle Leg	muscle
42	chr5:80777800-80778800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:80777800-80784000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:80778000-80778400	Strong transcription	Thymus	Thymus
45	chr5:80778000-80778800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:80778000-80778800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:80778000-80781200	Strong transcription	Dnd41	blood

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