Variant report

Variant	rs72614079
Chromosome Location	chr9:6216138-6216139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11553814	1.00[AFR][1000 genomes]
rs16924434	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv613205	chr9:6032924-6332901	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv916394	chr9:6055497-6322471	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv892157	chr9:6093790-6322415	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv831496	chr9:6101763-6285088	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv521598	chr9:6142157-6291125	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv892158	chr9:6149006-6266440	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027270	chr9:6152434-6328227	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv539968	chr9:6152434-6328227	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
14	nsv892159	chr9:6190076-6231239	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1632693	chr9:6216134-6216139	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6212800-6216200	Enhancers	Hela-S3	cervix
2	chr9:6213400-6217600	Weak transcription	HMEC	breast
3	chr9:6213400-6218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:6213600-6217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:6214400-6216400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:6214800-6217000	Weak transcription	Stomach Mucosa	stomach
7	chr9:6215000-6217000	Weak transcription	Fetal Kidney	kidney
8	chr9:6215000-6218000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:6215000-6218000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:6215200-6217800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:6215400-6217000	Active TSS	Adipose Nuclei	Adipose
12	chr9:6215400-6217800	Weak transcription	Brain Anterior Caudate	brain
13	chr9:6215400-6218200	Active TSS	Fetal Brain Female	brain
14	chr9:6215400-6219600	Active TSS	Right Atrium	heart
15	chr9:6215600-6216400	Active TSS	Aorta	Aorta
16	chr9:6215600-6216400	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:6215600-6217000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:6215600-6217000	Active TSS	Colon Smooth Muscle	Colon
19	chr9:6215600-6217000	Active TSS	Rectal Smooth Muscle	rectum
20	chr9:6215600-6217200	Active TSS	Stomach Smooth Muscle	stomach
21	chr9:6215600-6218400	Active TSS	Brain Germinal Matrix	brain
22	chr9:6215800-6216200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr9:6215800-6216400	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr9:6215800-6216600	Active TSS	Fetal Muscle Leg	muscle
25	chr9:6215800-6216600	Active TSS	Fetal Stomach	stomach
26	chr9:6215800-6217000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr9:6215800-6217000	Weak transcription	HUVEC	blood vessel
28	chr9:6215800-6217000	Weak transcription	NHDF-Ad	bronchial
29	chr9:6215800-6217400	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr9:6215800-6217600	Weak transcription	Osteobl	bone
31	chr9:6215800-6217800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:6215800-6217800	Weak transcription	Fetal Lung	lung
33	chr9:6215800-6218400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:6215800-6218600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr9:6216000-6216400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:6216000-6217200	Active TSS	Left Ventricle	heart
37	chr9:6216000-6217200	Active TSS	Right Ventricle	heart
38	chr9:6216000-6217800	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:6216000-6217800	Weak transcription	Ovary	ovary
40	chr9:6216000-6217800	Weak transcription	NHEK	skin
41	chr9:6216000-6218000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr9:6216000-6223800	Weak transcription	Fetal Brain Male	brain

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