Variant report

Variant	rs60094805
Chromosome Location	chr8:19338460-19338461
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17128476	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62496198	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
7	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19316200-19339200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
4	chr8:19331000-19352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:19333000-19339400	Enhancers	Primary T cells from cord blood	blood
6	chr8:19333400-19362200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:19334200-19339200	Weak transcription	Fetal Thymus	thymus
8	chr8:19334400-19339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:19334600-19347400	Weak transcription	Right Atrium	heart
10	chr8:19334800-19338600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:19335000-19339400	Weak transcription	Right Ventricle	heart
12	chr8:19335400-19339200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:19335800-19339000	Strong transcription	Primary B cells from cord blood	blood
14	chr8:19336000-19341800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:19336000-19341800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:19336000-19345000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr8:19336600-19340200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:19336800-19339000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:19336800-19339000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:19337000-19339000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:19337000-19341200	Weak transcription	Adipose Nuclei	Adipose
22	chr8:19337200-19339000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:19337400-19338800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:19337600-19339200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:19337600-19342600	Enhancers	Left Ventricle	heart
26	chr8:19337800-19339400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:19338000-19339000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:19338000-19339000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:19338000-19339000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:19338000-19339000	Enhancers	NHDF-Ad	bronchial
31	chr8:19338000-19339000	Enhancers	NHLF	lung
32	chr8:19338000-19351000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:19338200-19338600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:19338200-19338600	Enhancers	Placenta	Placenta
35	chr8:19338200-19338600	Flanking Active TSS	A549	lung
36	chr8:19338200-19338600	Enhancers	NH-A	brain
37	chr8:19338200-19338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:19338200-19338800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:19338200-19338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:19338200-19338800	Enhancers	HSMMtube	muscle
41	chr8:19338200-19338800	Flanking Active TSS	Osteobl	bone
42	chr8:19338200-19339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:19338200-19339000	Enhancers	Aorta	Aorta
44	chr8:19338200-19339400	Enhancers	Stomach Smooth Muscle	stomach
45	chr8:19338200-19340800	Enhancers	Hela-S3	cervix
46	chr8:19338400-19338600	Enhancers	Brain Anterior Caudate	brain
47	chr8:19338400-19338600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:19338400-19338600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:19338400-19338600	Enhancers	Stomach Mucosa	stomach
50	chr8:19338400-19338600	Enhancers	HSMM	muscle

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