Variant report

Variant	rs6493054
Chromosome Location	chr15:42886504-42886505
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	chr15:42885080..42886874-chr15:42900852..42903433,2	K562	blood:
2	chr15:42876086..42877947-chr15:42884244..42887556,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11070374	0.88[CHB][hapmap]
rs11070376	0.83[CEU][hapmap]
rs11631193	0.86[ASN][1000 genomes]
rs11632169	0.94[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1197545	0.90[AMR][1000 genomes]
rs1197546	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1197547	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1211642	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12903416	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1667493	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1705360	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1814518	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241998	0.88[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs4447398	0.82[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4923949	0.89[ASN][1000 genomes]
rs565298	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6493053	0.86[ASN][1000 genomes]
rs7168835	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs876992	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[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	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42869000-42887400	Weak transcription	Small Intestine	intestine
2	chr15:42874200-42894400	Weak transcription	A549	lung
3	chr15:42874200-42896600	Weak transcription	Hela-S3	cervix
4	chr15:42874400-42887000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr15:42874400-42887000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:42874400-42887200	Weak transcription	Placenta	Placenta
7	chr15:42874400-42887800	Weak transcription	HSMMtube	muscle
8	chr15:42874400-42895800	Weak transcription	Thymus	Thymus
9	chr15:42874400-42900200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:42874400-42900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:42874400-42900200	Weak transcription	Lung	lung
12	chr15:42874600-42888200	Weak transcription	Colonic Mucosa	Colon
13	chr15:42874600-42896200	Weak transcription	Primary T cells from cord blood	blood
14	chr15:42874800-42929800	Weak transcription	Fetal Brain Female	brain
15	chr15:42876000-42888400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr15:42876800-42887200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:42876800-42887400	Weak transcription	Aorta	Aorta
18	chr15:42876800-42900200	Weak transcription	HMEC	breast
19	chr15:42877000-42886800	Weak transcription	Right Atrium	heart
20	chr15:42877000-42887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:42877000-42887400	Weak transcription	Fetal Kidney	kidney
22	chr15:42877000-42887400	Weak transcription	NH-A	brain
23	chr15:42877000-42888200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:42877000-42890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:42877000-42896000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:42877000-42897000	Weak transcription	Right Ventricle	heart
27	chr15:42877000-42900200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:42877200-42887800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:42877200-42888200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:42877200-42911200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:42878400-42894200	Weak transcription	GM12878-XiMat	blood
32	chr15:42878800-42887000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:42878800-42888200	Weak transcription	HSMM	muscle
34	chr15:42878800-42894200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:42879000-42892000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:42879800-42898200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:42880800-42887800	Weak transcription	Psoas Muscle	Psoas
38	chr15:42880800-42896800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:42881000-42887400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:42881000-42896800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:42881400-42887000	Weak transcription	K562	blood
42	chr15:42882800-42891600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:42883200-42887600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr15:42883200-42897000	Weak transcription	Left Ventricle	heart
45	chr15:42883200-42897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:42883800-42887000	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:42883800-42887800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:42883800-42896200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:42884000-42887000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:42884000-42887000	Weak transcription	Brain Cingulate Gyrus	brain

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