Variant report

Variant	rs60001112
Chromosome Location	chr8:131065028-131065029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57213366	1.00[AMR][1000 genomes]
rs58012382	1.00[AMR][1000 genomes]
rs60043570	1.00[AMR][1000 genomes]
rs61123306	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61329743	1.00[AMR][1000 genomes]
rs61358542	1.00[AMR][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	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
2	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
3	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
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	esv1808070	chr8:131061073-131065821	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv612259	chr8:131061371-131066848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131056000-131066600	Weak transcription	Hela-S3	cervix
3	chr8:131058000-131065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:131058000-131065400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:131058400-131065200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:131058400-131065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:131058400-131066400	Weak transcription	Ovary	ovary
8	chr8:131058400-131066600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:131058400-131066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
11	chr8:131058600-131066000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:131058600-131066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:131058600-131068000	Weak transcription	Colonic Mucosa	Colon
14	chr8:131058800-131065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:131058800-131065200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:131058800-131066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:131058800-131066400	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:131058800-131066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:131058800-131066800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:131058800-131068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:131058800-131068600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:131058800-131068800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:131059000-131065200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr8:131059000-131065200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:131059000-131065400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:131059000-131065600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:131059000-131066600	Weak transcription	Fetal Kidney	kidney
29	chr8:131059000-131066600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:131059200-131065200	Weak transcription	HepG2	liver
31	chr8:131059200-131066400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:131059200-131066800	Weak transcription	Esophagus	oesophagus
33	chr8:131059200-131067200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:131059200-131068600	Weak transcription	GM12878-XiMat	blood
35	chr8:131059400-131065400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:131060800-131066600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:131061000-131065600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:131061000-131066600	Weak transcription	Gastric	stomach
39	chr8:131061200-131065200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:131061200-131065400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:131061200-131066800	Weak transcription	K562	blood
42	chr8:131061200-131074600	Weak transcription	Psoas Muscle	Psoas
43	chr8:131062400-131066200	Weak transcription	Fetal Lung	lung
44	chr8:131062400-131070200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:131062600-131065600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:131062600-131065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131062600-131066600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:131062600-131070800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:131062600-131070800	Strong transcription	Spleen	Spleen

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