Variant report

Variant	rs4708231
Chromosome Location	chr6:69362192-69362193
allele	A/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69354413..69356514-chr6:69361344..69363191,2	K562	blood:
2	chr6:69347861..69348766-chr6:69361860..69362824,2	K562	blood:
3	chr6:69355292..69359376-chr6:69359699..69365505,6	K562	blood:
4	chr6:69361875..69366635-chr6:69366839..69371569,10	K562	blood:
5	chr6:69361390..69364365-chr6:69454708..69457307,2	K562	blood:
6	chr6:69346849..69353858-chr6:69356877..69365508,11	K562	blood:
7	chr6:69360582..69362510-chr6:71104396..71107206,2	K562	blood:
8	chr6:69359484..69364655-chr6:69364836..69370262,9	K562	blood:
9	chr6:69361193..69363364-chr6:69405270..69407471,2	K562	blood:
10	chr6:69342446..69344321-chr6:69361840..69364075,2	K562	blood:
11	chr6:69349831..69353456-chr6:69358636..69362534,5	K562	blood:
12	chr6:69361693..69363656-chr6:69482162..69484655,2	K562	blood:
13	chr6:69361193..69364307-chr6:69405003..69407471,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237643	Chromatin interaction
ENSG00000230910	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1983623	0.88[CEU][hapmap];0.93[CHB][hapmap];0.81[EUR][1000 genomes]
rs2064389	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2257875	0.81[EUR][1000 genomes]
rs2585601	0.89[CEU][hapmap];0.93[CHB][hapmap]
rs2585603	0.89[CEU][hapmap];0.93[CHB][hapmap];0.80[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs2746128	0.88[CEU][hapmap];0.93[CHB][hapmap];0.81[EUR][1000 genomes]
rs2746133	0.80[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap]
rs2880145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4708197	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4708243	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs6455296	0.80[CEU][hapmap]
rs6928142	0.80[CEU][hapmap]
rs7746943	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747314	0.81[JPT][hapmap]
rs7752462	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7768160	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7773117	0.83[EUR][1000 genomes]
rs9351732	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9360357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9363961	0.82[EUR][1000 genomes]
rs9363963	0.88[CEU][hapmap];0.92[YRI][hapmap];0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69352200-69363200	Weak transcription	Brain Germinal Matrix	brain
2	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:69359600-69365400	Enhancers	Fetal Lung	lung
4	chr6:69359600-69365800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:69359800-69364200	Enhancers	Fetal Stomach	stomach
6	chr6:69360200-69362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:69360400-69363800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:69360600-69362400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:69361000-69362200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:69361000-69364200	Enhancers	Fetal Brain Female	brain
11	chr6:69361400-69362400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:69361400-69362400	Flanking Active TSS	K562	blood
13	chr6:69361600-69362200	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr6:69361600-69362400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr6:69361600-69362400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:69361600-69363400	Enhancers	Fetal Kidney	kidney
17	chr6:69361600-69363600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:69361800-69362400	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr6:69362000-69362200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:69362000-69362200	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr6:69362000-69362200	ZNF genes & repeats	Pancreas	Pancrea
22	chr6:69362000-69362200	Bivalent Enhancer	NH-A	brain
23	chr6:69362000-69362400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:69362000-69362400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr6:69362000-69363000	Enhancers	Fetal Brain Male	brain
26	chr6:69362000-69363200	Enhancers	Right Atrium	heart

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