Variant report

Variant	rs60106676
Chromosome Location	chr8:130884753-130884754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr8:130884412-130884835	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130884702..130887738-chr8:130891037..130893861,3	K562	blood:
2	chr8:130876185..130878507-chr8:130883790..130886588,3	K562	blood:
3	chr8:130868089..130870715-chr8:130884298..130886456,2	K562	blood:

Variant related genes	Relation type
ENSG00000200075	TF binding region
ENSG00000243402	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16904165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904167	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16904172	1.00[EUR][1000 genomes]
rs16904174	0.96[AFR][1000 genomes]
rs16904177	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60876734	1.00[EUR][1000 genomes]
rs6991626	1.00[EUR][1000 genomes]
rs6991867	1.00[EUR][1000 genomes]
rs7008330	1.00[EUR][1000 genomes]
rs73710949	0.90[AMR][1000 genomes]
rs73710951	0.90[AMR][1000 genomes]
rs73710959	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73710960	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73710967	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73710970	0.90[AMR][1000 genomes]
rs73710971	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130863600-130886800	Weak transcription	Fetal Lung	lung
2	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:130864600-130888200	Weak transcription	Small Intestine	intestine
4	chr8:130864800-130898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:130865000-130897400	Weak transcription	Psoas Muscle	Psoas
6	chr8:130865200-130887200	Weak transcription	Fetal Kidney	kidney
7	chr8:130865200-130897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:130865400-130899200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:130866000-130894800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:130866200-130885400	Weak transcription	Stomach Mucosa	stomach
12	chr8:130866400-130891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:130868000-130891400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:130869800-130895800	Weak transcription	HepG2	liver
15	chr8:130869800-130897600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:130870600-130886000	Weak transcription	HUVEC	blood vessel
17	chr8:130871200-130887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:130871200-130896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:130873600-130895600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:130873800-130887600	Weak transcription	Fetal Stomach	stomach
21	chr8:130874000-130899000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:130874200-130886800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:130874600-130886400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:130874600-130897600	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:130875200-130897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:130875800-130899400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:130877000-130885800	Weak transcription	Hela-S3	cervix
28	chr8:130877000-130886800	Weak transcription	NH-A	brain
29	chr8:130877200-130897400	Weak transcription	Fetal Intestine Small	intestine
30	chr8:130877200-130898800	Weak transcription	Lung	lung
31	chr8:130878400-130885400	Weak transcription	Fetal Heart	heart
32	chr8:130881800-130886800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:130881800-130887800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:130882000-130887600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:130882600-130887000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:130882600-130888400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:130882600-130889400	Weak transcription	K562	blood
38	chr8:130882800-130887200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:130882800-130887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:130882800-130896000	Weak transcription	Pancreas	Pancrea
41	chr8:130882800-130897600	Weak transcription	Right Ventricle	heart
42	chr8:130882800-130898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:130883000-130885400	Weak transcription	Brain Anterior Caudate	brain
44	chr8:130883000-130886200	Weak transcription	Brain Germinal Matrix	brain
45	chr8:130883000-130886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:130883000-130886400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:130883000-130886600	Weak transcription	NHEK	skin
48	chr8:130883000-130887200	Weak transcription	NHLF	lung
49	chr8:130883000-130887800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:130883000-130888000	Weak transcription	Aorta	Aorta

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