Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67216842..67220056-chr1:67223090..67226284,3	K562	blood:

Variant related genes	Relation type
ENSG00000152760	Chromatin interaction

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1032634	1.00[CHB][hapmap]
rs1032635	1.00[CHB][hapmap]
rs11810644	1.00[CHB][hapmap]
rs12070427	1.00[CHB][hapmap]
rs1280280	1.00[CHB][hapmap]
rs1280310	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs17129327	1.00[CHB][hapmap]
rs17129329	1.00[CHB][hapmap]
rs17129365	1.00[CHB][hapmap]
rs17440989	1.00[CHB][hapmap]
rs17492182	1.00[CHB][hapmap]
rs2146904	1.00[CHB][hapmap]
rs2483704	1.00[CHB][hapmap]
rs2483705	1.00[CHB][hapmap]
rs2916	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs485521	1.00[CHB][hapmap]
rs492109	1.00[CHB][hapmap]
rs499263	1.00[CHB][hapmap]
rs502690	1.00[CHB][hapmap]
rs515944	0.82[AMR][1000 genomes]
rs523132	1.00[CHB][hapmap]
rs523188	1.00[CHB][hapmap]
rs523956	1.00[CHB][hapmap]
rs524114	1.00[CHB][hapmap]
rs532564	0.96[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs536410	1.00[CHB][hapmap]
rs536527	1.00[CHB][hapmap]
rs539014	1.00[CHB][hapmap]
rs602513	1.00[CHB][hapmap]
rs603750	1.00[CHB][hapmap]
rs618093	1.00[CHB][hapmap]
rs628655	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs659291	1.00[CHB][hapmap]
rs665319	1.00[CHB][hapmap]
rs688630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693272	0.82[AMR][1000 genomes]
rs7515848	1.00[CHB][hapmap]
rs7554101	1.00[CHB][hapmap]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:67221200-67227400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:67221600-67236400	Weak transcription	Liver	Liver
4	chr1:67222000-67224600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:67222600-67224400	Enhancers	Primary B cells from cord blood	blood
6	chr1:67222800-67225400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:67222800-67236200	Weak transcription	Psoas Muscle	Psoas
8	chr1:67223200-67224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:67223200-67224400	Flanking Active TSS	K562	blood
10	chr1:67223200-67224600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:67223400-67224400	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:67223400-67224400	Enhancers	Fetal Heart	heart
13	chr1:67223400-67224400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:67223400-67224600	Enhancers	GM12878-XiMat	blood
15	chr1:67223600-67224600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:67224000-67224400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:67224000-67227200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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