Variant report

Variant	rs6988956
Chromosome Location	chr8:103936501-103936502
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
2	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
3	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
4	chr8:103936331..103939322-chr8:103948640..103950158,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1000156	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11988501	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28613197	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35644318	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6468841	0.87[EUR][1000 genomes]
rs6468847	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6468849	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015831	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7833563	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841632	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs939061	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv981972	chr8:103935652-103937242	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103926400-103937400	Weak transcription	Lung	lung
2	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:103930000-103938000	Weak transcription	Gastric	stomach
6	chr8:103931200-103936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:103931400-103936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
10	chr8:103932000-103936800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:103932000-103937200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
14	chr8:103932400-103937000	Weak transcription	Aorta	Aorta
15	chr8:103932400-103937200	Weak transcription	Placenta	Placenta
16	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:103932600-103937200	Weak transcription	Small Intestine	intestine
18	chr8:103932800-103937200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:103932800-103937400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:103932800-103938800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:103932800-103939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:103932800-103939600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:103933000-103936600	Weak transcription	GM12878-XiMat	blood
24	chr8:103933000-103937200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:103933000-103937200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:103933000-103937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:103933000-103937200	Weak transcription	Right Atrium	heart
28	chr8:103933000-103937400	Weak transcription	Pancreas	Pancrea
29	chr8:103933000-103939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:103933200-103937000	Weak transcription	Fetal Intestine Large	intestine
31	chr8:103933200-103937000	Weak transcription	Ovary	ovary
32	chr8:103933200-103937200	Weak transcription	Right Ventricle	heart
33	chr8:103933400-103936600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:103933400-103937000	Weak transcription	Fetal Intestine Small	intestine
35	chr8:103933400-103937000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:103933400-103937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:103933400-103937200	Weak transcription	Stomach Mucosa	stomach
38	chr8:103933400-103940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:103933600-103936600	Weak transcription	Osteobl	bone
40	chr8:103933600-103937200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:103934200-103937000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:103934600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:103934600-103936800	Weak transcription	K562	blood
44	chr8:103934600-103937000	Weak transcription	Adipose Nuclei	Adipose
45	chr8:103934600-103937000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:103934800-103936600	Weak transcription	Hela-S3	cervix
47	chr8:103934800-103941400	Weak transcription	Liver	Liver
48	chr8:103935000-103937400	Weak transcription	HepG2	liver
49	chr8:103935400-103937000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:103935800-103937000	Enhancers	A549	lung

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