Variant report

Variant	rs72650509
Chromosome Location	chr8:66751877-66751878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:66751805-66751928	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:66695473..66703733-chr8:66751774..66756006,10	K562	blood:
2	chr8:66750114..66752616-chr8:66932184..66934106,2	MCF-7	breast:
3	chr8:66739522..66741697-chr8:66751069..66753094,2	K562	blood:

Variant related genes	Relation type
PDE7A	TF binding region
ENSG00000272192	TF binding region
ENSG00000205268	Chromatin interaction
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1316700	0.81[ASN][1000 genomes]
rs58175788	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59198392	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62507653	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6472221	0.81[ASN][1000 genomes]
rs6472224	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6472228	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66537647	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66609388	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67813477	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72666552	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839014	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[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	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
4	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
5	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
6	chr8:66738600-66752600	Weak transcription	Pancreas	Pancrea
7	chr8:66740200-66752400	Weak transcription	Fetal Kidney	kidney
8	chr8:66742200-66752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:66745200-66753000	Weak transcription	Gastric	stomach
10	chr8:66746200-66752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:66746200-66752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:66747200-66752400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:66748000-66752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:66748000-66752400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:66748000-66752400	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:66748000-66752800	Weak transcription	Psoas Muscle	Psoas
17	chr8:66748000-66752800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
19	chr8:66748200-66755800	Active TSS	Thymus	Thymus
20	chr8:66748800-66752400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:66749000-66752400	Enhancers	Brain Angular Gyrus	brain
22	chr8:66749000-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:66749200-66752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:66749200-66752600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:66749200-66752800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:66749400-66752000	Enhancers	Fetal Brain Male	brain
28	chr8:66749400-66752400	Active TSS	Duodenum Mucosa	Duodenum
29	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr8:66749600-66755000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr8:66749800-66755000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr8:66750000-66752000	Enhancers	Brain Germinal Matrix	brain
33	chr8:66750000-66752600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:66750000-66753400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr8:66750200-66754400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:66750400-66752000	Enhancers	HepG2	liver
37	chr8:66750400-66752600	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr8:66750400-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:66750600-66752200	Flanking Active TSS	NHEK	skin
40	chr8:66750600-66752400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr8:66750800-66752200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:66750800-66752200	Enhancers	Brain Hippocampus Middle	brain
43	chr8:66750800-66755000	Active TSS	GM12878-XiMat	blood
44	chr8:66751000-66752200	Weak transcription	Brain Anterior Caudate	brain
45	chr8:66751000-66752600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:66751000-66752600	Enhancers	Fetal Lung	lung
47	chr8:66751000-66755200	Active TSS	Right Atrium	heart
48	chr8:66751000-66755600	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr8:66751200-66752000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:66751200-66752200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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