Variant report

Variant	rs7003238
Chromosome Location	chr8:125275455-125275456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125049009..125051707-chr8:125273517..125275708,2	MCF-7	breast:
2	chr8:125273484..125276342-chr8:125277791..125281041,4	K562	blood:
3	chr8:125273657..125275518-chr8:125282049..125285179,3	MCF-7	breast:
4	chr8:125274009..125276949-chr8:125383546..125386105,3	MCF-7	breast:
5	chr8:125274766..125276637-chr8:125281262..125283690,2	MCF-7	breast:
6	chr8:125273998..125276342-chr8:125277688..125279573,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000253227	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	0.96[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	0.96[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	0.84[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17360711	0.96[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]
rs6983392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73330303	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73330304	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73345110	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73345158	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73345172	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73345176	0.91[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
rs7003238	RP11-383J24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 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	chr8:125273400-125275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:125273400-125275600	Enhancers	Fetal Intestine Large	intestine
7	chr8:125273400-125275600	Enhancers	Thymus	Thymus
8	chr8:125273400-125275800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:125273400-125275800	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:125273400-125275800	Enhancers	Fetal Intestine Small	intestine
11	chr8:125273400-125276000	Enhancers	HUVEC	blood vessel
12	chr8:125273400-125276400	Enhancers	Dnd41	blood
13	chr8:125273400-125276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:125273600-125275600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:125273600-125275600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:125273600-125275600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:125273600-125275600	Enhancers	GM12878-XiMat	blood
18	chr8:125273600-125275800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:125273600-125275800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:125273600-125275800	Enhancers	Fetal Thymus	thymus
21	chr8:125273600-125276000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:125273600-125276200	Enhancers	Primary B cells from cord blood	blood
23	chr8:125273800-125275600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr8:125273800-125275600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:125273800-125275600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:125273800-125275600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr8:125273800-125275600	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:125273800-125275600	Enhancers	Small Intestine	intestine
29	chr8:125273800-125275600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:125273800-125275800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:125273800-125275800	Enhancers	Placenta	Placenta
32	chr8:125273800-125275800	Enhancers	Stomach Mucosa	stomach
33	chr8:125274200-125275600	Enhancers	Colon Smooth Muscle	Colon
34	chr8:125274200-125275600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:125274200-125275800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:125274200-125275800	Enhancers	Pancreas	Pancrea
37	chr8:125274200-125276000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:125274200-125276000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:125274400-125275600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:125274400-125275600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:125274400-125275600	Enhancers	Esophagus	oesophagus
42	chr8:125274400-125275600	Enhancers	Gastric	stomach
43	chr8:125274400-125275800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:125274600-125275600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:125274600-125275600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:125274600-125275600	Enhancers	Fetal Kidney	kidney
47	chr8:125274600-125275800	Enhancers	Psoas Muscle	Psoas
48	chr8:125274600-125276000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:125274600-125276000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:125274600-125276000	Enhancers	Hela-S3	cervix

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