Variant report

Variant	rs12679743
Chromosome Location	chr8:10123284-10123285
allele	C/T
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:2)

rs_ID	r²[population]
rs12679687	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17151540	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10104000-10124600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:10112200-10124600	Weak transcription	Adipose Nuclei	Adipose
4	chr8:10112200-10124600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:10113600-10124600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10116200-10124600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:10118000-10123800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:10118200-10123600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:10118200-10127800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:10118200-10128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:10120000-10124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:10122000-10123400	Enhancers	Fetal Intestine Large	intestine
14	chr8:10122000-10123600	Enhancers	Fetal Intestine Small	intestine
15	chr8:10122000-10123800	Enhancers	Duodenum Mucosa	Duodenum
16	chr8:10122400-10123400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:10122400-10123400	Enhancers	Liver	Liver
18	chr8:10122400-10123400	Enhancers	Small Intestine	intestine
19	chr8:10122600-10123400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:10122800-10123400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:10122800-10123400	Enhancers	Colon Smooth Muscle	Colon
22	chr8:10122800-10123400	Enhancers	Pancreas	Pancrea
23	chr8:10122800-10123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:10123000-10124200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:10123000-10124600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:10123000-10125000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:10123000-10128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
29	chr8:10123200-10123400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:10123200-10123400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:10123200-10123400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:10123200-10124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:10123200-10124400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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