Variant report

Variant	rs9321117
Chromosome Location	chr6:128699822-128699823
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34421967	1.00[EUR][1000 genomes]
rs35305335	1.00[EUR][1000 genomes]
rs71568903	1.00[EUR][1000 genomes]
rs7741253	1.00[CEU][hapmap]
rs9491926	1.00[YRI][hapmap]
rs9491934	1.00[YRI][hapmap]
rs9491941	1.00[AMR][1000 genomes]
rs9491943	1.00[AMR][1000 genomes]
rs9491947	1.00[YRI][hapmap]
rs9491967	1.00[CEU][hapmap]

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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128679600-128732000	Weak transcription	Left Ventricle	heart
2	chr6:128688800-128706800	Weak transcription	Gastric	stomach
3	chr6:128688800-128738800	Weak transcription	Psoas Muscle	Psoas
4	chr6:128690000-128704400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:128690400-128701800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:128691200-128711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:128691600-128730400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:128692200-128701000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:128697400-128700400	Weak transcription	Fetal Lung	lung
10	chr6:128697400-128700600	Weak transcription	Ovary	ovary
11	chr6:128697800-128733400	Weak transcription	HSMM	muscle
12	chr6:128698200-128701800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:128698400-128701000	Weak transcription	Brain Substantia Nigra	brain
14	chr6:128698600-128701200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:128698600-128709800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:128698800-128700800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:128698800-128701400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:128698800-128709000	Weak transcription	Fetal Intestine Small	intestine
19	chr6:128698800-128724000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:128698800-128743200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:128699200-128715000	Weak transcription	HepG2	liver
22	chr6:128699400-128703200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:128699600-128701000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:128699600-128720400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:128699600-128724000	Weak transcription	NHEK	skin

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