Variant report

Variant	rs6983392
Chromosome Location	chr8:125275721-125275722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125273484..125276342-chr8:125277791..125281041,4	K562	blood:
2	chr8:125274009..125276949-chr8:125383546..125386105,3	MCF-7	breast:
3	chr8:125274766..125276637-chr8:125281262..125283690,2	MCF-7	breast:
4	chr8:125273998..125276342-chr8:125277688..125279573,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087001	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10087062	0.80[ASN][1000 genomes]
rs10087137	0.80[ASN][1000 genomes]
rs10087222	0.80[ASN][1000 genomes]
rs10087374	0.80[ASN][1000 genomes]
rs10089870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10099103	0.82[EUR][1000 genomes]
rs13439237	0.84[ASN][1000 genomes]
rs13439439	0.84[ASN][1000 genomes]
rs13439443	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17295548	0.80[ASN][1000 genomes]
rs17360690	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17360711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17361004	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28371029	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4871483	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55764180	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55784871	0.83[ASN][1000 genomes]
rs55932688	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56068026	0.80[ASN][1000 genomes]
rs56218959	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56234976	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56245645	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66467223	0.82[ASN][1000 genomes]
rs66961607	0.89[ASN][1000 genomes]
rs67712436	0.90[ASN][1000 genomes]
rs67815046	0.82[ASN][1000 genomes]
rs68047305	0.90[ASN][1000 genomes]
rs6988141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003238	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73330303	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73330304	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73345110	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345158	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345172	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73345176	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345185	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842882	0.81[ASN][1000 genomes]
rs9969472	0.83[ASN][1000 genomes]
rs9969473	0.83[ASN][1000 genomes]
rs9969475	0.83[ASN][1000 genomes]
rs9969479	0.83[ASN][1000 genomes]
rs9969480	0.83[ASN][1000 genomes]
rs9969624	0.83[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
rs6983392	RP11-383J24.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125258400-125282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125272600-125277200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125272800-125277400	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:125273000-125277000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:125273400-125275800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:125273400-125275800	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:125273400-125275800	Enhancers	Fetal Intestine Small	intestine
8	chr8:125273400-125276000	Enhancers	HUVEC	blood vessel
9	chr8:125273400-125276400	Enhancers	Dnd41	blood
10	chr8:125273400-125276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:125273600-125275800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:125273600-125275800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr8:125273600-125275800	Enhancers	Fetal Thymus	thymus
14	chr8:125273600-125276000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:125273600-125276200	Enhancers	Primary B cells from cord blood	blood
16	chr8:125273800-125275800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:125273800-125275800	Enhancers	Placenta	Placenta
18	chr8:125273800-125275800	Enhancers	Stomach Mucosa	stomach
19	chr8:125274200-125275800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:125274200-125275800	Enhancers	Pancreas	Pancrea
21	chr8:125274200-125276000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:125274200-125276000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr8:125274400-125275800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:125274600-125275800	Enhancers	Psoas Muscle	Psoas
25	chr8:125274600-125276000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:125274600-125276000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr8:125274600-125276000	Enhancers	Hela-S3	cervix
28	chr8:125274600-125277200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:125274800-125275800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:125274800-125276400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
32	chr8:125275000-125276600	Enhancers	A549	lung
33	chr8:125275000-125276800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:125275200-125276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:125275400-125276000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:125275400-125277600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:125275400-125279000	Weak transcription	Right Ventricle	heart
38	chr8:125275400-125281200	Weak transcription	Left Ventricle	heart
39	chr8:125275400-125281200	Weak transcription	Right Atrium	heart
40	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:125275600-125275800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:125275600-125275800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr8:125275600-125276000	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:125275600-125276800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr8:125275600-125277000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:125275600-125277200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:125275600-125277400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:125275600-125277600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:125275600-125277600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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