Variant report

Variant	rs73301750
Chromosome Location	chr8:92084489-92084490
allele	A/T
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	POLR2A	chr8:92084484-92084802	MCF-7	breast:	n/a	n/a
2	KAP1	chr8:92084364-92084642	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:92049693..92055107-chr8:92080246..92084828,10	MCF-7	breast:
2	chr8:91995786..91997694-chr8:92083188..92084734,2	MCF-7	breast:
3	chr8:91996381..92003775-chr8:92079147..92086022,11	K562	blood:

Variant related genes	Relation type
ENSG00000253738	TF binding region
ENSG00000155099	Chromatin interaction
ENSG00000253250	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10216509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10956789	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28423010	1.00[AMR][1000 genomes]
rs28444195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28510966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6471255	1.00[AMR][1000 genomes]
rs73301742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9987346	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92094600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:92083200-92095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
5	chr8:92083400-92084800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr8:92083400-92085000	Enhancers	Small Intestine	intestine
7	chr8:92083400-92085600	Weak transcription	Left Ventricle	heart
8	chr8:92083400-92088400	Weak transcription	Stomach Mucosa	stomach
9	chr8:92083400-92090400	Weak transcription	Ovary	ovary
10	chr8:92083400-92091000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:92083400-92094600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
13	chr8:92083400-92103600	Weak transcription	Lung	lung
14	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:92083600-92084600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr8:92083600-92084800	Weak transcription	Liver	Liver
17	chr8:92083600-92084800	Enhancers	Fetal Heart	heart
18	chr8:92083600-92085000	Weak transcription	Adipose Nuclei	Adipose
19	chr8:92083600-92085000	Weak transcription	Fetal Brain Female	brain
20	chr8:92083600-92085000	Weak transcription	NHDF-Ad	bronchial
21	chr8:92083600-92085200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:92083600-92085200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:92083600-92085400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:92083600-92085600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:92083600-92085600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:92083600-92085600	Weak transcription	Fetal Kidney	kidney
27	chr8:92083600-92085800	Weak transcription	Brain Germinal Matrix	brain
28	chr8:92083600-92086200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:92083600-92088800	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:92083600-92089000	Weak transcription	Fetal Lung	lung
31	chr8:92083600-92090200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:92083600-92090400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:92083600-92090400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:92083600-92090400	Weak transcription	HSMMtube	muscle
35	chr8:92083600-92090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:92083600-92091600	Weak transcription	Right Ventricle	heart
37	chr8:92083600-92092400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:92083600-92093600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:92083600-92094600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:92083600-92094600	Weak transcription	Fetal Stomach	stomach
41	chr8:92083600-92103600	Weak transcription	Gastric	stomach
42	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
47	chr8:92083800-92084600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr8:92083800-92084600	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr8:92083800-92084600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:92083800-92084600	Enhancers	HepG2	liver

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