Variant report

Variant	rs11992476
Chromosome Location	chr8:10192608-10192609
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10107407	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986902	1.00[AMR][1000 genomes]
rs28526848	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10190000-10192800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr8:10190400-10193200	Enhancers	Fetal Heart	heart
3	chr8:10190400-10193400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:10190600-10192800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr8:10190600-10193400	Enhancers	Spleen	Spleen
6	chr8:10191000-10193000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:10191200-10192800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr8:10191400-10192800	Flanking Active TSS	Fetal Thymus	thymus
9	chr8:10191400-10192800	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:10191400-10192800	Flanking Active TSS	NH-A	brain
11	chr8:10191600-10192800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr8:10191600-10192800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr8:10191600-10192800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:10191600-10192800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr8:10191600-10193000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:10191600-10193000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr8:10191800-10192800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:10191800-10192800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:10191800-10192800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:10191800-10192800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:10191800-10192800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr8:10191800-10192800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:10191800-10192800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:10191800-10192800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr8:10191800-10192800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr8:10191800-10192800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:10191800-10192800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:10191800-10192800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:10191800-10192800	Active TSS	Brain Angular Gyrus	brain
30	chr8:10191800-10192800	Active TSS	Brain Cingulate Gyrus	brain
31	chr8:10191800-10192800	Active TSS	Brain Hippocampus Middle	brain
32	chr8:10191800-10192800	Active TSS	Brain Substantia Nigra	brain
33	chr8:10191800-10192800	Active TSS	Colon Smooth Muscle	Colon
34	chr8:10191800-10192800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr8:10191800-10192800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr8:10191800-10192800	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr8:10191800-10192800	Active TSS	Ovary	ovary
38	chr8:10191800-10192800	Flanking Active TSS	Thymus	Thymus
39	chr8:10191800-10192800	Active TSS	A549	lung
40	chr8:10191800-10192800	Flanking Active TSS	HMEC	breast
41	chr8:10191800-10192800	Flanking Active TSS	HUVEC	blood vessel
42	chr8:10191800-10192800	Active TSS	NHDF-Ad	bronchial
43	chr8:10191800-10192800	Active TSS	NHLF	lung
44	chr8:10191800-10193000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:10191800-10193000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:10191800-10193000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:10191800-10193200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:10192000-10192800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:10192000-10192800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:10192000-10192800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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