Variant report

Variant	rs6914327
Chromosome Location	chr6:128606865-128606866
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12193722	1.00[AMR][1000 genomes]
rs17055571	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055586	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17055587	0.95[AFR][1000 genomes]
rs17055614	0.85[AMR][1000 genomes]
rs17055622	1.00[AMR][1000 genomes]
rs57369971	1.00[AMR][1000 genomes]
rs57456285	1.00[AMR][1000 genomes]
rs6900898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905271	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6928070	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7740786	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7741119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7744979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7746709	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7751608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7771803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128585200-128617600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:128588000-128608200	Weak transcription	Aorta	Aorta
3	chr6:128593000-128609000	Weak transcription	Fetal Lung	lung
4	chr6:128593000-128631600	Weak transcription	Left Ventricle	heart
5	chr6:128595800-128608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:128596600-128608800	Weak transcription	NH-A	brain
7	chr6:128596800-128607400	Weak transcription	HSMMtube	muscle
8	chr6:128596800-128623600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:128597800-128625000	Weak transcription	HSMM	muscle
10	chr6:128598200-128613800	Weak transcription	HUVEC	blood vessel
11	chr6:128598600-128621200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:128598800-128612400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:128601200-128607200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:128602400-128632400	Weak transcription	Pancreas	Pancrea
15	chr6:128603000-128617200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:128603000-128642800	Weak transcription	Fetal Intestine Large	intestine
17	chr6:128604400-128630600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:128604400-128633200	Weak transcription	Fetal Thymus	thymus
19	chr6:128604600-128612600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:128605600-128616600	Weak transcription	Ovary	ovary
21	chr6:128605800-128607200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:128605800-128612200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:128605800-128627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:128605800-128631200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:128606200-128630600	Weak transcription	Fetal Heart	heart
26	chr6:128606400-128607200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:128606400-128616600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:128606800-128607000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:128606800-128607000	Enhancers	Right Atrium	heart

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