Variant report

Variant	rs1863959
Chromosome Location	chr5:79415333-79415334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79414738..79417325-chr5:79420437..79423118,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11950944	0.90[ASN][1000 genomes]
rs12523350	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167875	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028270	0.90[ASN][1000 genomes]
rs4703798	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704611	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704613	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704614	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6867810	0.91[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	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79406200-79421000	Weak transcription	Right Ventricle	heart
2	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:79409400-79417600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:79409800-79420800	Weak transcription	Thymus	Thymus
5	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:79410200-79417400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:79411800-79415800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:79413400-79419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:79413600-79420600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:79413800-79418200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:79413800-79418600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:79413800-79418800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:79413800-79419000	Weak transcription	Primary T cells from cord blood	blood
15	chr5:79414000-79417200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:79414000-79420000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr5:79414400-79415400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr5:79414600-79415400	Enhancers	Left Ventricle	heart
19	chr5:79414800-79417600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:79414800-79420400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:79415000-79415400	Enhancers	Fetal Heart	heart
22	chr5:79415000-79419600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:79415200-79415400	Enhancers	Fetal Muscle Trunk	muscle
24	chr5:79415200-79415600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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