Variant report

Variant	rs73237734
Chromosome Location	chr8:65498766-65498767
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	POLR2A	chr8:65497643-65498855	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr8:65489407-65498990	GM19099	blood:	n/a	n/a
3	SUZ12	chr8:65497932-65500143	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:65498388-65500182	H1-neurons	neurons:	n/a	n/a
5	BACH1	chr8:65498585-65499234	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:65498304-65499967	H1-neurons	neurons:	n/a	n/a
7	TEAD4	chr8:65498410-65498785	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:65492030..65493969-chr8:65497416..65499279,2	K562	blood:

Variant related genes	Relation type
ENSG00000254102	TF binding region
ENSG00000180828	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16931279	1.00[EUR][1000 genomes]
rs55730348	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58668300	1.00[EUR][1000 genomes]
rs58715144	1.00[EUR][1000 genomes]
rs58897334	1.00[EUR][1000 genomes]
rs59330690	1.00[EUR][1000 genomes]
rs59355904	1.00[EUR][1000 genomes]
rs6988434	1.00[EUR][1000 genomes]
rs6994261	1.00[EUR][1000 genomes]
rs7003587	1.00[EUR][1000 genomes]
rs73234031	1.00[EUR][1000 genomes]
rs73234094	1.00[EUR][1000 genomes]
rs73237705	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73237742	1.00[EUR][1000 genomes]
rs73237746	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237756	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237765	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237766	1.00[EUR][1000 genomes]
rs73246189	1.00[EUR][1000 genomes]
rs73246200	1.00[EUR][1000 genomes]
rs73248315	1.00[EUR][1000 genomes]
rs73248316	1.00[EUR][1000 genomes]
rs73248341	1.00[EUR][1000 genomes]
rs73248376	1.00[EUR][1000 genomes]
rs73689571	1.00[EUR][1000 genomes]
rs7817370	1.00[EUR][1000 genomes]
rs7821719	1.00[EUR][1000 genomes]
rs7827701	1.00[EUR][1000 genomes]
rs7832640	1.00[EUR][1000 genomes]
rs7833820	1.00[EUR][1000 genomes]
rs9694711	1.00[EUR][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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65497800-65499600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
2	chr8:65498000-65499400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr8:65498200-65498800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
4	chr8:65498200-65498800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:65498200-65498800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:65498200-65498800	Enhancers	Pancreas	Pancrea
7	chr8:65498200-65499800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:65498200-65499800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr8:65498200-65500000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr8:65498400-65498800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:65498400-65498800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr8:65498400-65498800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:65498400-65498800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
14	chr8:65498400-65498800	Bivalent Enhancer	Esophagus	oesophagus
15	chr8:65498400-65498800	Bivalent Enhancer	Fetal Brain Male	brain
16	chr8:65498400-65498800	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr8:65498400-65498800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr8:65498400-65498800	Enhancers	Right Atrium	heart
19	chr8:65498400-65499000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
20	chr8:65498400-65499200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr8:65498400-65499200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
22	chr8:65498400-65499200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:65498400-65499200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:65498400-65499200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:65498400-65499200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
26	chr8:65498400-65499200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
27	chr8:65498400-65499200	Bivalent Enhancer	Fetal Heart	heart
28	chr8:65498400-65499200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr8:65498400-65499400	Bivalent Enhancer	Fetal Lung	lung
30	chr8:65498400-65499600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr8:65498400-65499600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr8:65498400-65500000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr8:65498400-65500200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr8:65498400-65500200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr8:65498600-65498800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:65498600-65498800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:65498600-65498800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:65498600-65498800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:65498600-65498800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:65498600-65498800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:65498600-65498800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr8:65498600-65498800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:65498600-65498800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
44	chr8:65498600-65498800	Bivalent Enhancer	Fetal Stomach	stomach
45	chr8:65498600-65498800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
46	chr8:65498600-65498800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
47	chr8:65498600-65499000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:65498600-65499000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:65498600-65499000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr8:65498600-65499000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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