Variant report

Variant	rs10108562
Chromosome Location	chr8:10403547-10403548
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10402409..10405026-chr8:10406767..10409505,2	K562	blood:
2	chr8:10403125..10404765-chr8:10411334..10413586,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11774008	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775794	1.00[ASN][1000 genomes]
rs11776423	1.00[ASN][1000 genomes]
rs11776454	1.00[ASN][1000 genomes]
rs11777184	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778788	1.00[ASN][1000 genomes]
rs11778815	1.00[ASN][1000 genomes]
rs11779652	1.00[ASN][1000 genomes]
rs11780167	1.00[ASN][1000 genomes]
rs11780436	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11780868	1.00[ASN][1000 genomes]
rs11781718	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783577	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783848	1.00[ASN][1000 genomes]
rs11785876	1.00[ASN][1000 genomes]
rs11786688	1.00[ASN][1000 genomes]
rs11787384	1.00[ASN][1000 genomes]
rs11787493	1.00[ASN][1000 genomes]
rs13249905	1.00[ASN][1000 genomes]
rs17151969	1.00[ASN][1000 genomes]
rs28361533	1.00[ASN][1000 genomes]
rs28577240	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34994999	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320513	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4591993	1.00[ASN][1000 genomes]
rs4840494	1.00[ASN][1000 genomes]
rs4840495	1.00[ASN][1000 genomes]
rs4840496	1.00[ASN][1000 genomes]
rs4841364	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4841367	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841379	1.00[ASN][1000 genomes]
rs4841390	1.00[ASN][1000 genomes]
rs4841394	1.00[ASN][1000 genomes]
rs4841395	1.00[ASN][1000 genomes]
rs4841397	1.00[ASN][1000 genomes]
rs4841400	1.00[ASN][1000 genomes]
rs4841406	1.00[ASN][1000 genomes]
rs56096665	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58842562	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60930396	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743179	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601486	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981847	1.00[ASN][1000 genomes]
rs7006052	1.00[ASN][1000 genomes]
rs73662849	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662851	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662852	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662853	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662854	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662855	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662858	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662860	0.87[EUR][1000 genomes]
rs7846306	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10402600-10405200	Enhancers	Fetal Brain Male	brain
2	chr8:10402800-10403600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:10402800-10403800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:10402800-10403800	Enhancers	Brain Germinal Matrix	brain
5	chr8:10402800-10403800	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:10402800-10404800	Enhancers	Colon Smooth Muscle	Colon
7	chr8:10403000-10403600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:10403000-10403600	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:10403000-10403800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr8:10403000-10404000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:10403000-10404000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:10403000-10404200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr8:10403000-10404600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr8:10403000-10404600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:10403000-10405400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr8:10403000-10405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:10403000-10405600	Enhancers	Left Ventricle	heart
18	chr8:10403200-10403600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:10403200-10403600	Flanking Active TSS	Fetal Brain Female	brain
20	chr8:10403200-10403600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:10403200-10403800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:10403200-10403800	Enhancers	Adipose Nuclei	Adipose
23	chr8:10403200-10403800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:10403200-10403800	Bivalent Enhancer	Fetal Stomach	stomach
25	chr8:10403200-10404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:10403200-10404000	Enhancers	Brain Anterior Caudate	brain
27	chr8:10403200-10404000	Enhancers	Colonic Mucosa	Colon
28	chr8:10403200-10404800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:10403200-10406200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:10403200-10406200	Enhancers	Right Ventricle	heart
31	chr8:10403200-10407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:10403400-10403600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:10403400-10403600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:10403400-10403600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:10403400-10403600	Enhancers	Fetal Thymus	thymus
36	chr8:10403400-10403600	Enhancers	HSMMtube	muscle
37	chr8:10403400-10403600	Enhancers	NHDF-Ad	bronchial
38	chr8:10403400-10403800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:10403400-10403800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:10403400-10403800	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:10403400-10404000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:10403400-10404000	Enhancers	Psoas Muscle	Psoas
43	chr8:10403400-10405400	Enhancers	Fetal Heart	heart
44	chr8:10403400-10405800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:10403400-10406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:10403400-10407200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr8:10403400-10412000	Weak transcription	H9 Cell Line	embryonic stem cell

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