Variant report

Variant	rs6468846
Chromosome Location	chr8:103935290-103935291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10505040	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544232	0.92[ASN][1000 genomes]
rs12548745	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1533182	0.86[AMR][1000 genomes]
rs17197341	0.92[ASN][1000 genomes]
rs4734676	0.92[ASN][1000 genomes]
rs4734678	0.92[ASN][1000 genomes]
rs4734680	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56854051	0.92[ASN][1000 genomes]
rs62526533	0.96[ASN][1000 genomes]
rs62526534	0.96[ASN][1000 genomes]
rs62526535	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62526538	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526539	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998032	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999525	0.96[ASN][1000 genomes]
rs7843670	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
2	chr8:103926400-103937400	Weak transcription	Lung	lung
3	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103930000-103938000	Weak transcription	Gastric	stomach
7	chr8:103931200-103936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:103931400-103936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
11	chr8:103932000-103936800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:103932000-103937200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:103932200-103936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
16	chr8:103932400-103937000	Weak transcription	Aorta	Aorta
17	chr8:103932400-103937200	Weak transcription	Placenta	Placenta
18	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:103932600-103937200	Weak transcription	Small Intestine	intestine
20	chr8:103932800-103937200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:103932800-103937400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:103932800-103938800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:103932800-103939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:103932800-103939600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:103933000-103936200	Weak transcription	Fetal Stomach	stomach
26	chr8:103933000-103936600	Weak transcription	GM12878-XiMat	blood
27	chr8:103933000-103937200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:103933000-103937200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:103933000-103937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:103933000-103937200	Weak transcription	Right Atrium	heart
31	chr8:103933000-103937400	Weak transcription	Pancreas	Pancrea
32	chr8:103933000-103939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:103933200-103937000	Weak transcription	Fetal Intestine Large	intestine
34	chr8:103933200-103937000	Weak transcription	Ovary	ovary
35	chr8:103933200-103937200	Weak transcription	Right Ventricle	heart
36	chr8:103933400-103935800	Weak transcription	A549	lung
37	chr8:103933400-103935800	Weak transcription	NHLF	lung
38	chr8:103933400-103936600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:103933400-103937000	Weak transcription	Fetal Intestine Small	intestine
40	chr8:103933400-103937000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:103933400-103937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:103933400-103937200	Weak transcription	Stomach Mucosa	stomach
43	chr8:103933400-103940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:103933600-103936000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:103933600-103936200	Weak transcription	Fetal Heart	heart
46	chr8:103933600-103936400	Weak transcription	NHDF-Ad	bronchial
47	chr8:103933600-103936600	Weak transcription	Osteobl	bone
48	chr8:103933600-103937200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:103934000-103935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:103934200-103937000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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