Variant report

Variant	rs72667212
Chromosome Location	chr8:103917741-103917742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103905020..103906707-chr8:103917202..103920098,2	MCF-7	breast:
2	chr8:103914488..103917104-chr8:103917551..103922052,4	K562	blood:
3	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
4	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1062365	0.86[EUR][1000 genomes]
rs3758091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4295632	0.85[AMR][1000 genomes]
rs60470921	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72667203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667216	0.83[AMR][1000 genomes]
rs72667217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667221	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667224	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667225	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667226	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72667244	0.89[EUR][1000 genomes]
rs72667245	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72667258	0.92[AMR][1000 genomes]
rs72667261	0.92[AMR][1000 genomes]
rs72686912	0.86[EUR][1000 genomes]
rs72686914	0.86[EUR][1000 genomes]
rs72686917	0.91[EUR][1000 genomes]
rs72686930	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686931	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686935	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
4	chr8:103907800-103922600	Weak transcription	Gastric	stomach
5	chr8:103909200-103918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103909400-103918600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:103911000-103919000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
10	chr8:103911400-103918400	Weak transcription	Hela-S3	cervix
11	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
12	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:103911600-103921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:103911800-103921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
18	chr8:103911800-103922600	Weak transcription	Lung	lung
19	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:103913400-103922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
22	chr8:103913600-103922600	Weak transcription	Spleen	Spleen
23	chr8:103914400-103920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:103915000-103920000	Enhancers	Placenta	Placenta
25	chr8:103915600-103921400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:103915800-103918200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:103915800-103918400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:103915800-103922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:103915800-103922000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:103915800-103922400	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:103915800-103922600	Weak transcription	Right Atrium	heart
32	chr8:103916000-103918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:103916000-103919400	Weak transcription	Primary T cells from cord blood	blood
34	chr8:103916000-103921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:103916000-103922000	Weak transcription	Fetal Lung	lung
36	chr8:103916000-103922000	Weak transcription	Ovary	ovary
37	chr8:103916000-103922800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:103916200-103918200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:103916200-103918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:103916200-103918200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:103916200-103918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:103916200-103918400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:103916200-103918400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:103916200-103918400	Weak transcription	HSMM	muscle
45	chr8:103916200-103918600	Weak transcription	HepG2	liver
46	chr8:103916200-103922000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:103916400-103918200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:103916400-103918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:103916400-103918200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr8:103916400-103918200	Weak transcription	HMEC	breast

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