Variant report

Variant	rs66961607
Chromosome Location	chr8:125279408-125279409
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	USF1	chr8:125279239-125279648	A549	lung:	n/a	n/a
2	FOS	chr8:125279398-125279660	MCF10A-Er-Src	breast:	n/a	chr8:125279564-125279572 chr8:125279501-125279511 chr8:125279562-125279574 chr8:125279562-125279573
3	BHLHE40	chr8:125279379-125279655	HepG2	liver:	n/a	n/a
4	USF1	chr8:125279280-125279645	A549	lung:	n/a	n/a
5	JUN	chr8:125279352-125279748	HUVEC	blood vessel:	n/a	chr8:125279564-125279572 chr8:125279501-125279511 chr8:125279562-125279574
6	USF1	chr8:125279280-125279666	A549	lung:	n/a	n/a
7	USF1	chr8:125279337-125279650	A549	lung:	n/a	n/a
8	USF1	chr8:125279357-125279642	K562	blood:	n/a	n/a
9	FOSL2	chr8:125279295-125279824	A549	lung:	n/a	chr8:125279564-125279572 chr8:125279501-125279511 chr8:125279562-125279574
10	FOS	chr8:125279349-125279679	MCF10A-Er-Src	breast:	n/a	chr8:125279564-125279572 chr8:125279501-125279511 chr8:125279562-125279574 chr8:125279562-125279573
11	CBX3	chr8:125279237-125279672	K562	blood:	n/a	n/a
12	RCOR1	chr8:125279334-125279523	K562	blood:	n/a	n/a
13	ATF1	chr8:125279387-125279632	K562	blood:	n/a	n/a
14	USF1	chr8:125279245-125279638	K562	blood:	n/a	n/a
15	USF1	chr8:125279252-125279710	A549	lung:	n/a	n/a
16	BHLHE40	chr8:125279357-125279631	K562	blood:	n/a	n/a
17	FOS	chr8:125279340-125279758	HUVEC	blood vessel:	n/a	chr8:125279564-125279572 chr8:125279501-125279511 chr8:125279562-125279574 chr8:125279562-125279573

No.	Distal block	Cell Line	Cell type
1	chr8:125273484..125276342-chr8:125277791..125281041,4	K562	blood:
2	chr8:125273998..125276342-chr8:125277688..125279573,2	K562	blood:
3	chr8:125277499..125279728-chr8:125280833..125283202,2	MCF-7	breast:
4	chr8:125278615..125279574-chr8:125437995..125438639,3	K562	blood:
5	chr8:125278138..125281039-chr8:125391343..125392943,2	MCF-7	breast:
6	chr8:125278702..125279580-chr8:125437290..125438183,3	MCF-7	breast:
7	chr8:125278580..125279450-chr8:125437284..125438438,4	MCF-7	breast:
8	chr8:125276177..125277998-chr8:125279360..125280920,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10087001	0.86[ASN][1000 genomes]
rs10087062	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10087137	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10087222	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10087374	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10089870	0.83[ASN][1000 genomes]
rs10091808	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10092616	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13439237	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13439439	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13439443	0.84[ASN][1000 genomes]
rs17295226	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17295548	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17360690	0.82[ASN][1000 genomes]
rs17360711	0.84[ASN][1000 genomes]
rs17360746	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17360788	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4374970	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4504618	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4593526	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4871476	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871477	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871478	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4871480	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871481	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4871482	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55784871	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55945711	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56068026	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56234976	0.85[ASN][1000 genomes]
rs56383080	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60167901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60995425	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66467223	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67153514	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67712436	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67815046	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68047305	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983392	0.89[ASN][1000 genomes]
rs6984141	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984458	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6984642	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6984921	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6986310	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6988141	0.90[ASN][1000 genomes]
rs7003238	0.89[ASN][1000 genomes]
rs7003974	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7011052	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011213	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011528	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72719397	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73330303	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73330304	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73345110	0.84[ASN][1000 genomes]
rs73345113	0.84[ASN][1000 genomes]
rs73345158	0.86[ASN][1000 genomes]
rs73345172	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73345176	0.89[ASN][1000 genomes]
rs73345185	0.85[ASN][1000 genomes]
rs7842882	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9297693	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9643192	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9969472	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969473	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969475	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969479	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969480	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9969624	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66961607	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
3	chr8:125275400-125281200	Weak transcription	Left Ventricle	heart
4	chr8:125275400-125281200	Weak transcription	Right Atrium	heart
5	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125275800-125281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:125275800-125281200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:125275800-125281200	Weak transcription	Psoas Muscle	Psoas
10	chr8:125276000-125280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:125276000-125281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:125276800-125281600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:125278800-125279600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:125279000-125279600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125279000-125280000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:125279000-125280200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr8:125279000-125280200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:125279000-125280400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125279000-125280600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:125279000-125280600	Enhancers	HUVEC	blood vessel
21	chr8:125279200-125279600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:125279200-125279800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:125279200-125279800	Enhancers	Pancreas	Pancrea
24	chr8:125279200-125280000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:125279200-125280400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:125279200-125280400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:125279200-125280600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:125279200-125282200	Enhancers	A549	lung
29	chr8:125279400-125279600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:125279400-125279600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:125279400-125279600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:125279400-125279600	Enhancers	GM12878-XiMat	blood
33	chr8:125279400-125279600	Enhancers	K562	blood
34	chr8:125279400-125279800	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr8:125279400-125279800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:125279400-125280400	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:125279400-125281200	Enhancers	Hela-S3	cervix
38	chr8:125279400-125284000	Weak transcription	Right Ventricle	heart

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