Variant report

Variant	rs371813
Chromosome Location	chr5:80282698-80282699
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80280624..80283430-chr5:80318817..80321662,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs371612	0.93[ASN][1000 genomes]
rs401758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434130	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs444937	0.95[ASN][1000 genomes]
rs500676	0.81[CHB][hapmap];0.82[YRI][hapmap];0.81[ASN][1000 genomes]
rs541624	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs546846	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs564543	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs371813	CKMT2	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80269800-80285800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:80270000-80284200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:80273200-80283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:80275400-80283000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:80277600-80287000	Weak transcription	Right Ventricle	heart
6	chr5:80277800-80282800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr5:80278000-80293000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:80280200-80284000	Weak transcription	Spleen	Spleen
9	chr5:80281000-80284600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:80281200-80284400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:80281200-80284600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:80281400-80283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:80281400-80283000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:80281400-80283800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:80281400-80284000	Enhancers	HepG2	liver
16	chr5:80281400-80284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr5:80281400-80284800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:80281400-80285400	Enhancers	Primary T cells from cord blood	blood
19	chr5:80281400-80290800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:80281400-80290800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr5:80281600-80283000	Enhancers	Adipose Nuclei	Adipose
22	chr5:80281600-80283200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:80281600-80286000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:80281600-80286800	Enhancers	Brain Substantia Nigra	brain
25	chr5:80282000-80283200	Enhancers	Fetal Intestine Large	intestine
26	chr5:80282000-80283400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:80282000-80284400	Enhancers	Brain Hippocampus Middle	brain
28	chr5:80282000-80287400	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:80282200-80283000	Weak transcription	Left Ventricle	heart
30	chr5:80282200-80283600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:80282400-80283200	Enhancers	Brain Anterior Caudate	brain
32	chr5:80282400-80283400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:80282400-80284200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr5:80282400-80285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:80282400-80286800	Enhancers	Brain Angular Gyrus	brain
36	chr5:80282600-80282800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:80282600-80282800	Flanking Active TSS	Right Atrium	heart
38	chr5:80282600-80284400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:80282600-80286400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:80282600-80286600	Enhancers	Brain Inferior Temporal Lobe	brain

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