Variant report

Variant	rs7004427
Chromosome Location	chr8:121508150-121508151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121493947..121495884-chr8:121507888..121510586,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11776121	0.84[ASN][1000 genomes]
rs11778778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781698	0.99[ASN][1000 genomes]
rs11786027	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11989221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994578	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12675851	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678944	0.94[ASN][1000 genomes]
rs12680935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35511242	0.95[ASN][1000 genomes]
rs35761432	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35895310	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870728	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870730	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55695515	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57481340	0.97[ASN][1000 genomes]
rs59967069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991936	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7006059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006363	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016084	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821312	0.85[ASN][1000 genomes]
rs7825296	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7826746	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7835199	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
4	chr8:121458800-121510400	Weak transcription	NHLF	lung
5	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
10	chr8:121487600-121512200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:121488400-121539200	Weak transcription	HSMM	muscle
12	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
14	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
15	chr8:121498600-121509800	Weak transcription	Right Ventricle	heart
16	chr8:121498600-121533200	Weak transcription	HMEC	breast
17	chr8:121498800-121510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:121498800-121530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:121499400-121530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
21	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:121500000-121530800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:121500400-121514400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:121500400-121531600	Weak transcription	K562	blood
26	chr8:121500600-121513000	Weak transcription	NHEK	skin
27	chr8:121501200-121520600	Weak transcription	HepG2	liver
28	chr8:121501400-121540600	Weak transcription	GM12878-XiMat	blood
29	chr8:121502000-121542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:121502200-121541600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:121502400-121508200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:121502400-121510000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:121502400-121512800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:121502400-121526800	Weak transcription	Primary T cells from cord blood	blood
36	chr8:121502400-121527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:121502400-121530800	Weak transcription	Primary B cells from cord blood	blood
38	chr8:121502400-121541600	Weak transcription	Ovary	ovary
39	chr8:121502400-121542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
41	chr8:121502600-121530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:121502800-121528000	Weak transcription	Fetal Thymus	thymus
43	chr8:121502800-121528200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:121502800-121536400	Weak transcription	Hela-S3	cervix
45	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
46	chr8:121503400-121519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:121503400-121542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:121504200-121527200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:121504400-121508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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