Variant report

Variant	rs6988141
Chromosome Location	chr8:125276138-125276139
allele	A/G
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: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

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

Chromatin state (count:41 , 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	chr8:125272600-125277200	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	chr8:125273400-125276400	Enhancers	Dnd41	blood
6	chr8:125273400-125276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:125273600-125276200	Enhancers	Primary B cells from cord blood	blood
8	chr8:125274600-125277200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:125274800-125276400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:125274800-125287400	Weak transcription	Fetal Brain Male	brain
11	chr8:125275000-125276600	Enhancers	A549	lung
12	chr8:125275000-125276800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:125275200-125276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:125275400-125277600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:125275400-125279000	Weak transcription	Right Ventricle	heart
16	chr8:125275400-125281200	Weak transcription	Left Ventricle	heart
17	chr8:125275400-125281200	Weak transcription	Right Atrium	heart
18	chr8:125275400-125281400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:125275400-125282800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:125275600-125276800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr8:125275600-125277000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:125275600-125277200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:125275600-125277400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:125275600-125277600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr8:125275600-125277600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:125275600-125278000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:125275600-125279200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:125275800-125276400	Enhancers	Primary T cells from cord blood	blood
29	chr8:125275800-125276800	Weak transcription	Fetal Thymus	thymus
30	chr8:125275800-125277600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr8:125275800-125279000	Weak transcription	Placenta	Placenta
32	chr8:125275800-125279200	Weak transcription	Pancreas	Pancrea
33	chr8:125275800-125281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:125275800-125281200	Weak transcription	Fetal Intestine Small	intestine
35	chr8:125275800-125281200	Weak transcription	Psoas Muscle	Psoas
36	chr8:125276000-125276600	Enhancers	GM12878-XiMat	blood
37	chr8:125276000-125279000	Weak transcription	HUVEC	blood vessel
38	chr8:125276000-125279400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:125276000-125279400	Weak transcription	Hela-S3	cervix
40	chr8:125276000-125280400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:125276000-125281200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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