Variant report

Variant	rs2486388
Chromosome Location	chr6:149325201-149325202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149321677..149323293-chr6:149324219..149325797,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10080240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2340750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2449385	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2486387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2486389	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486393	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486394	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2486419	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500523	0.81[EUR][1000 genomes]
rs2500524	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2500527	0.87[EUR][1000 genomes]
rs2500529	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2500531	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2500532	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500538	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500541	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6911303	0.84[EUR][1000 genomes]
rs7759757	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv830842	chr6:149272321-149427340	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149305400-149381400	Weak transcription	Gastric	stomach
2	chr6:149310200-149335200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:149311000-149335200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:149314800-149327400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:149320200-149335400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:149320200-149344800	Weak transcription	Left Ventricle	heart
7	chr6:149321600-149336000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:149321600-149340600	Weak transcription	Aorta	Aorta
9	chr6:149321800-149325600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:149321800-149327000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:149321800-149328800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:149321800-149328800	Weak transcription	Ovary	ovary
13	chr6:149321800-149332600	Weak transcription	HSMMtube	muscle
14	chr6:149321800-149335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:149321800-149340200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:149321800-149349800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:149322600-149325400	Weak transcription	Fetal Stomach	stomach
18	chr6:149322600-149326600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:149322600-149334400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:149322800-149325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:149322800-149326400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:149322800-149327000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:149323000-149325400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:149323000-149325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:149323000-149333000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:149323000-149333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:149323000-149334400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr6:149323000-149334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:149323000-149335600	Weak transcription	Fetal Lung	lung
30	chr6:149323000-149342600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:149323200-149326400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:149323200-149326800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr6:149323200-149326800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:149323200-149327000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:149323400-149325800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr6:149323600-149335600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:149323800-149333000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr6:149324200-149326200	Weak transcription	Dnd41	blood
39	chr6:149324200-149329600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:149324600-149325800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:149324600-149334600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:149324800-149325600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr6:149324800-149326800	Weak transcription	Lung	lung
44	chr6:149325200-149327000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:149325200-149333000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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