Variant report

Variant	rs73329822
Chromosome Location	chr8:120598135-120598136
allele	C/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	chr8:120598029-120599363	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr8:120597922-120599334	SK-N-SH	brain:	n/a	n/a
3	JUND	chr8:120597878-120599416	SK-N-SH	brain:	n/a	n/a
4	JUND	chr8:120598046-120599482	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:120597825-120599497	SK-N-SH	brain:	n/a	chr8:120598909-120598921
6	RAD21	chr8:120598095-120598307	SK-N-SH_RA	brain:	n/a	n/a
7	NFIC	chr8:120597944-120598676	SK-N-SH	brain:	n/a	n/a
8	FOS	chr8:120598122-120598961	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr8:120598054-120598453	MCF10A-Er-Src	breast:	n/a	n/a
10	PBX3	chr8:120598006-120598641	SK-N-SH	brain:	n/a	n/a
11	EP300	chr8:120597842-120599443	SK-N-SH	brain:	n/a	chr8:120598392-120598406
12	TCF12	chr8:120597847-120599587	SK-N-SH	brain:	n/a	n/a
13	NFIC	chr8:120597749-120599499	SK-N-SH	brain:	n/a	chr8:120599071-120599088 chr8:120599072-120599088
14	FOXM1	chr8:120597941-120598656	SK-N-SH	brain:	n/a	n/a
15	YY1	chr8:120598043-120598546	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr8:120597872-120599587	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:120598058-120599472	U87	brain:	n/a	n/a
18	PBX3	chr8:120597894-120599428	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr8:120598127-120598332	SK-N-SH_RA	brain:	n/a	n/a
20	YY1	chr8:120598085-120598359	SK-N-SH_RA	brain:	n/a	n/a
21	ZBTB33	chr8:120598038-120598620	SK-N-SH	brain:	n/a	n/a
22	MEF2A	chr8:120597913-120599402	SK-N-SH	brain:	n/a	chr8:120597952-120597973
23	FOS	chr8:120598129-120598955	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr8:120598046-120598422	SK-N-SH_RA	brain:	n/a	chr8:120598392-120598406
25	TEAD4	chr8:120598038-120599456	SK-N-SH	brain:	n/a	chr8:120598583-120598592
26	EP300	chr8:120598041-120598490	SK-N-SH_RA	brain:	n/a	chr8:120598392-120598406
27	EP300	chr8:120597806-120599504	SK-N-SH	brain:	n/a	chr8:120598392-120598406
28	MAX	chr8:120597985-120599386	SK-N-SH	brain:	n/a	n/a
29	GATA3	chr8:120597682-120599612	SK-N-SH	brain:	n/a	chr8:120598909-120598921
30	POLR2A	chr8:120598052-120599472	U87	brain:	n/a	n/a
31	REST	chr8:120598119-120598304	SK-N-SH	brain:	n/a	n/a
32	CEBPB	chr8:120598068-120599271	IMR90	lung:	n/a	n/a
33	RXRA	chr8:120597974-120599508	SK-N-SH	brain:	n/a	chr8:120599037-120599046
34	MAX	chr8:120598015-120598615	SK-N-SH	brain:	n/a	n/a
35	TEAD4	chr8:120597963-120599424	SK-N-SH	brain:	n/a	chr8:120598583-120598592
36	POLR2A	chr8:120598024-120598589	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16892807	0.83[EUR][1000 genomes]
rs66698379	0.81[AFR][1000 genomes]
rs73326164	0.89[AFR][1000 genomes]
rs73329808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs965670	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
7	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
8	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120592400-120598800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:120592800-120599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:120593800-120599600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:120593800-120599800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:120593800-120600000	Strong transcription	Liver	Liver
15	chr8:120594200-120598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:120595200-120599200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:120595400-120598400	Strong transcription	Adipose Nuclei	Adipose
18	chr8:120595600-120598400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:120595600-120601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:120595600-120601400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:120595800-120598200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:120595800-120599000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
26	chr8:120596000-120598600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:120596000-120598800	Weak transcription	Brain Angular Gyrus	brain
28	chr8:120596200-120598200	Weak transcription	HMEC	breast
29	chr8:120596200-120598400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
31	chr8:120596800-120600200	Enhancers	NHLF	lung
32	chr8:120597200-120598400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:120597400-120599000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:120597400-120599000	Weak transcription	Placenta	Placenta
35	chr8:120597400-120599000	Enhancers	HSMM	muscle
36	chr8:120597600-120598400	Enhancers	NH-A	brain
37	chr8:120597600-120599400	Genic enhancers	Brain Substantia Nigra	brain
38	chr8:120597600-120600200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:120597600-120600200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
41	chr8:120597800-120598600	Enhancers	NHEK	skin
42	chr8:120597800-120598800	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:120597800-120599400	Enhancers	HSMMtube	muscle
44	chr8:120597800-120599600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:120598000-120598200	Flanking Active TSS	Osteobl	bone
46	chr8:120598000-120598400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:120598000-120598600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:120598000-120599400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:120598000-120599800	Enhancers	Brain Hippocampus Middle	brain
50	chr8:120598000-120600000	Genic enhancers	Fetal Lung	lung

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