Variant report

Variant	rs9454601
Chromosome Location	chr6:69361836-69361837
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000237643	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11486647	1.00[AMR][1000 genomes]
rs60256757	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6933218	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341220	0.83[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7740604	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs9454593	1.00[AMR][1000 genomes]
rs9454594	1.00[AMR][1000 genomes]
rs9454597	1.00[AMR][1000 genomes]
rs9454598	1.00[AMR][1000 genomes]
rs9454600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9454603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9454607	1.00[ASW][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69350800-69362000	Weak transcription	Right Atrium	heart
2	chr6:69352200-69363200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:69359600-69365400	Enhancers	Fetal Lung	lung
5	chr6:69359600-69365800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:69359800-69362000	Weak transcription	Pancreas	Pancrea
7	chr6:69359800-69364200	Enhancers	Fetal Stomach	stomach
8	chr6:69360000-69362000	Weak transcription	Fetal Brain Male	brain
9	chr6:69360200-69362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:69360400-69363800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:69360600-69362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:69360600-69362000	Enhancers	Brain Angular Gyrus	brain
13	chr6:69360600-69362000	Enhancers	NH-A	brain
14	chr6:69360600-69362400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:69361000-69362200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:69361000-69364200	Enhancers	Fetal Brain Female	brain
17	chr6:69361400-69362400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:69361400-69362400	Flanking Active TSS	K562	blood
19	chr6:69361600-69362000	Enhancers	Brain Hippocampus Middle	brain
20	chr6:69361600-69362200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr6:69361600-69362400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr6:69361600-69362400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:69361600-69363400	Enhancers	Fetal Kidney	kidney
24	chr6:69361600-69363600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:69361800-69362400	Flanking Active TSS	Brain Substantia Nigra	brain

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