Variant report

Variant	rs2973349
Chromosome Location	chr5:80825738-80825739
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	chr5:80821840..80824435-chr5:80824877..80827166,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11746820	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11747523	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159526	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173067	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180125	1.00[ASW][hapmap];0.87[CEU][hapmap];0.90[MEX][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13184667	0.89[AFR][1000 genomes]
rs2917540	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2972231	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972233	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972234	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972236	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972243	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972246	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973340	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973348	0.89[CEU][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3916011	0.89[AFR][1000 genomes]
rs396231	0.82[CHB][hapmap]
rs4607338	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6898782	0.82[CHB][hapmap]
rs71636275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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:31 , 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	chr5:80798600-80826600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:80803200-80834400	Weak transcription	Fetal Kidney	kidney
6	chr5:80803200-80835200	Weak transcription	GM12878-XiMat	blood
7	chr5:80803600-80875200	Weak transcription	Fetal Brain Female	brain
8	chr5:80812400-80826600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:80812400-80829200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:80817000-80827400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr5:80820000-80829600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:80820200-80851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:80820800-80834600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:80821600-80829400	Weak transcription	Psoas Muscle	Psoas
15	chr5:80821600-80829800	Weak transcription	Small Intestine	intestine
16	chr5:80821600-80832200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:80821800-80825800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:80821800-80825800	Weak transcription	Fetal Heart	heart
19	chr5:80821800-80827600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:80821800-80828000	Weak transcription	Right Atrium	heart
21	chr5:80821800-80829600	Weak transcription	Thymus	Thymus
22	chr5:80821800-80829800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:80821800-80836800	Weak transcription	NHDF-Ad	bronchial
24	chr5:80821800-80849000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:80822000-80827600	Weak transcription	HSMM	muscle
26	chr5:80822200-80826200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:80822200-80829400	Weak transcription	Osteobl	bone
28	chr5:80822400-80827800	Strong transcription	Fetal Thymus	thymus
29	chr5:80825200-80827400	Strong transcription	Dnd41	blood
30	chr5:80825200-80865200	Weak transcription	Fetal Brain Male	brain
31	chr5:80825400-80829400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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