Variant report

Variant	rs688791
Chromosome Location	chr8:103926197-103926198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103875800..103878358-chr8:103923422..103926354,2	K562	blood:
2	chr8:103922092..103927536-chr8:103936066..103939373,4	MCF-7	breast:
3	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17776569	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17776600	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1802539	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1806300	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1982111	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1991928	0.87[ASN][1000 genomes]
rs2247355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2436856	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2513876	0.87[ASN][1000 genomes]
rs2513877	0.94[EUR][1000 genomes]
rs2570945	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2570951	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2570952	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2679736	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2679737	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2679740	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2679745	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2679753	0.87[ASN][1000 genomes]
rs3018943	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34157576	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35656046	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs529802	0.83[AMR][1000 genomes]
rs581610	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601088	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs622072	0.83[AMR][1000 genomes]
rs677406	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
2	chr8:103922200-103929600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103922800-103929800	Weak transcription	Fetal Brain Male	brain
4	chr8:103922800-103930600	Weak transcription	Ovary	ovary
5	chr8:103923000-103926200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103923000-103926400	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:103923000-103927200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:103923000-103927200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:103923000-103927200	Weak transcription	Pancreas	Pancrea
10	chr8:103923000-103929400	Weak transcription	Left Ventricle	heart
11	chr8:103923000-103929600	Weak transcription	Placenta	Placenta
12	chr8:103923000-103931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:103923000-103931000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:103923000-103931600	Weak transcription	Fetal Stomach	stomach
15	chr8:103923000-103932000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:103923200-103929800	Weak transcription	Brain Anterior Caudate	brain
17	chr8:103923200-103931000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
19	chr8:103923400-103931200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:103923400-103932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:103923600-103926600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:103923600-103928800	Weak transcription	A549	lung
23	chr8:103923600-103929200	Weak transcription	Fetal Heart	heart
24	chr8:103923600-103931200	Weak transcription	HMEC	breast
25	chr8:103923600-103931600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:103925600-103926400	Enhancers	Lung	lung
27	chr8:103925600-103926600	Enhancers	Adipose Nuclei	Adipose
28	chr8:103925600-103926600	Enhancers	HSMM	muscle
29	chr8:103925600-103926600	Enhancers	NHLF	lung
30	chr8:103925600-103926800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:103925600-103926800	Enhancers	NHDF-Ad	bronchial
32	chr8:103925600-103927000	Enhancers	Right Atrium	heart
33	chr8:103925800-103926200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:103925800-103926200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:103925800-103926200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:103925800-103926200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:103925800-103926200	Enhancers	Brain Hippocampus Middle	brain
38	chr8:103925800-103926200	Flanking Active TSS	HSMMtube	muscle
39	chr8:103925800-103926400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:103925800-103926400	Enhancers	Aorta	Aorta
41	chr8:103925800-103926400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr8:103925800-103926400	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:103925800-103926400	Enhancers	Fetal Muscle Leg	muscle
44	chr8:103925800-103926400	Enhancers	Right Ventricle	heart
45	chr8:103925800-103926600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:103925800-103926600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:103925800-103926600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:103925800-103926800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:103926000-103926400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:103926000-103926400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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