Variant report

Variant	rs298218
Chromosome Location	chr8:65294672-65294673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:64303536..64304445-chr8:65294376..65295331,4	MCF-7	breast:
2	chr8:64662291..64663069-chr8:65294420..65295295,2	MCF-7	breast:
3	chr8:64303593..64304820-chr8:65294224..65295292,6	MCF-7	breast:
4	chr8:64305743..64306564-chr8:65294350..65295283,2	K562	blood:
5	chr8:64514791..64515651-chr8:65294408..65294985,2	MCF-7	breast:
6	chr8:64330687..64331445-chr8:65294375..65295300,3	MCF-7	breast:
7	chr8:65294431..65295126-chr8:65370465..65370971,2	MCF-7	breast:
8	chr8:64514998..64515703-chr8:65294327..65295289,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE22-1	chr8:65294160-65295843	ENSG00000254377.1
2	lnc-BHLHE22-1	chr8:65294160-65296344	ENSG00000254377.1
3	lnc-BHLHE22-1	chr8:65294160-65300061	NR_109792
4	lnc-BHLHE22-1	chr8:65291706-65295225	NONHSAT126961

No data

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10098936	1.00[AFR][1000 genomes]
rs1440144	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1823667	0.80[ASN][1000 genomes]
rs192721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218045	0.80[ASN][1000 genomes]
rs2246411	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2577887	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2577894	0.80[ASN][1000 genomes]
rs2577897	0.85[ASN][1000 genomes]
rs2600466	0.80[ASN][1000 genomes]
rs2600467	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2600470	0.85[ASN][1000 genomes]
rs2600471	0.88[ASN][1000 genomes]
rs2600472	0.88[ASN][1000 genomes]
rs2612589	0.80[ASN][1000 genomes]
rs2612590	0.80[ASN][1000 genomes]
rs2612600	0.88[ASN][1000 genomes]
rs2612603	0.82[ASN][1000 genomes]
rs298176	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298177	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298179	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298182	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298183	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298184	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298185	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298186	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298196	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298197	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298198	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298199	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298200	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298203	0.83[EUR][1000 genomes]
rs298207	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs298210	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298216	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3110288	0.81[ASN][1000 genomes]
rs3110289	0.87[ASN][1000 genomes]
rs59712423	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv523097	chr8:65283691-65295491	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65290600-65295000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:65290600-65296800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:65293400-65297000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:65293400-65298000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:65293600-65294800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr8:65293800-65294800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr8:65293800-65294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:65294200-65294800	Active TSS	Brain Anterior Caudate	brain
9	chr8:65294200-65294800	Bivalent/Poised TSS	A549	lung
10	chr8:65294400-65294800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:65294400-65295000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr8:65294400-65295000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:65294400-65296000	Enhancers	Fetal Brain Male	brain
14	chr8:65294600-65294800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:65294600-65294800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr8:65294600-65294800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:65294600-65294800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr8:65294600-65294800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
19	chr8:65294600-65294800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:65294600-65294800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:65294600-65294800	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr8:65294600-65294800	Bivalent Enhancer	Liver	Liver
23	chr8:65294600-65294800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr8:65294600-65294800	Bivalent/Poised TSS	HSMMtube	muscle
25	chr8:65294600-65295000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr8:65294600-65295000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:65294600-65295000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:65294600-65295000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr8:65294600-65295000	Active TSS	Osteobl	bone
30	chr8:65294600-65295200	Active TSS	Fetal Brain Female	brain
31	chr8:65294600-65296200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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