Variant report

Variant	rs7016339
Chromosome Location	chr8:64121730-64121731
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64115234..64118106-chr8:64120478..64122032,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10086139	0.86[ASN][1000 genomes]
rs10106324	1.00[CHB][hapmap]
rs10283333	0.86[ASN][1000 genomes]
rs11988945	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12335094	1.00[CHB][hapmap]
rs12708014	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13266641	0.86[ASN][1000 genomes]
rs13280015	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1369455	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435459	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17209651	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217828	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28540594	0.86[ASN][1000 genomes]
rs4279586	1.00[CHB][hapmap]
rs4446729	1.00[CHB][hapmap]
rs6991201	0.86[ASN][1000 genomes]
rs6998134	1.00[CHB][hapmap]
rs7003413	1.00[CHB][hapmap]
rs7010484	1.00[CHB][hapmap]
rs7016325	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7465150	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
2	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
4	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
6	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
7	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:64105200-64122400	Weak transcription	NHDF-Ad	bronchial
10	chr8:64105400-64122200	Weak transcription	K562	blood
11	chr8:64105800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:64108600-64122400	Weak transcription	HMEC	breast
15	chr8:64108600-64132000	Weak transcription	Lung	lung
16	chr8:64108600-64134000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:64108800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:64109000-64132000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:64112800-64122200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:64112800-64122400	Weak transcription	HepG2	liver
21	chr8:64113200-64122400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:64113200-64125800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:64113200-64132600	Weak transcription	Aorta	Aorta
24	chr8:64113600-64122200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:64113600-64132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:64113800-64122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:64113800-64127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:64113800-64131800	Weak transcription	Hela-S3	cervix
29	chr8:64114000-64130800	Weak transcription	NHEK	skin
30	chr8:64114200-64122200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr8:64114600-64122200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr8:64114600-64122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:64114600-64129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:64114600-64131400	Weak transcription	HSMMtube	muscle
35	chr8:64115000-64129000	Weak transcription	Fetal Heart	heart
36	chr8:64115400-64122400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:64116800-64122000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:64117800-64122000	Weak transcription	NH-A	brain
39	chr8:64117800-64122000	Weak transcription	Osteobl	bone
40	chr8:64117800-64122200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:64117800-64122200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:64117800-64122200	Weak transcription	GM12878-XiMat	blood
43	chr8:64117800-64131800	Weak transcription	NHLF	lung
44	chr8:64117800-64133200	Weak transcription	Fetal Stomach	stomach
45	chr8:64118000-64121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:64118000-64122200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:64118000-64125200	Weak transcription	Stomach Mucosa	stomach
48	chr8:64118200-64126000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:64118400-64122200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:64118400-64122200	Weak transcription	Liver	Liver

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