Variant report

Variant	rs34414290
Chromosome Location	chr5:80828802-80828803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80804010..80805576-chr5:80828120..80830137,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10454898	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12153000	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188888	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2972228	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2972230	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2972232	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972244	0.86[EUR][1000 genomes]
rs2972245	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2973341	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2973343	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2973350	0.88[EUR][1000 genomes]
rs6452416	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6878037	0.84[AMR][1000 genomes];0.84[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80779000-80830200	Weak transcription	Primary B cells from cord blood	blood
2	chr5:80779000-80834400	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:80797000-80834000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
5	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
6	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
7	chr5:80812400-80829200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:80820000-80829600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:80820200-80851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:80820800-80834600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:80821600-80829400	Weak transcription	Psoas Muscle	Psoas
12	chr5:80821600-80829800	Weak transcription	Small Intestine	intestine
13	chr5:80821600-80832200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:80821800-80829600	Weak transcription	Thymus	Thymus
15	chr5:80821800-80829800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:80821800-80836800	Weak transcription	NHDF-Ad	bronchial
17	chr5:80821800-80849000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:80822200-80829400	Weak transcription	Osteobl	bone
19	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
20	chr5:80825400-80829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:80825800-80829400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:80826200-80829400	Weak transcription	Fetal Heart	heart
23	chr5:80826600-80829800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:80827000-80840600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:80827000-80848200	Weak transcription	Left Ventricle	heart
26	chr5:80827200-80829200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:80827400-80829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:80827600-80829400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:80827600-80835600	Enhancers	Primary T cells from cord blood	blood
30	chr5:80827800-80829400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:80827800-80829400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:80827800-80829800	Weak transcription	Fetal Thymus	thymus
33	chr5:80828000-80829200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:80828000-80829200	Weak transcription	Dnd41	blood
35	chr5:80828000-80829400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:80828400-80834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:80828800-80830800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:80828800-80830800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr5:80828800-80863400	Weak transcription	Fetal Lung	lung

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