Variant report

Variant	rs61279074
Chromosome Location	chr5:118483774-118483775
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118482277..118484558-chr5:118486167..118488400,3	K562	blood:
2	chr5:118482899..118485109-chr5:118486246..118488385,2	K562	blood:
3	chr5:118478114..118480102-chr5:118482259..118484393,2	MCF-7	breast:
4	chr5:118482237..118484513-chr5:118485440..118487659,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10052879	0.85[ASN][1000 genomes]
rs10064311	0.84[ASN][1000 genomes]
rs10065628	0.89[ASN][1000 genomes]
rs10071890	0.84[ASN][1000 genomes]
rs10477584	0.84[ASN][1000 genomes]
rs11241489	0.95[ASN][1000 genomes]
rs11241490	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11241492	0.82[ASN][1000 genomes]
rs11738702	0.83[EUR][1000 genomes]
rs12653870	0.82[ASN][1000 genomes]
rs12658987	0.83[EUR][1000 genomes]
rs34867936	0.89[AFR][1000 genomes]
rs4286709	0.89[ASN][1000 genomes]
rs4380699	0.89[ASN][1000 genomes]
rs4512152	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4533918	0.82[ASN][1000 genomes]
rs4583917	0.95[ASN][1000 genomes]
rs4895185	0.89[ASN][1000 genomes]
rs57278208	0.82[ASN][1000 genomes]
rs62374136	0.90[EUR][1000 genomes]
rs6595174	0.86[EUR][1000 genomes]
rs6595178	0.89[ASN][1000 genomes]
rs6863826	0.82[ASN][1000 genomes]
rs6880622	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889308	0.89[ASN][1000 genomes]
rs7713483	0.82[ASN][1000 genomes]
rs7734532	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790885	0.82[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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118438600-118484400	Weak transcription	NHLF	lung
3	chr5:118447400-118485400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
5	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr5:118456800-118484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:118469800-118484400	Weak transcription	NHDF-Ad	bronchial
9	chr5:118470000-118503200	Weak transcription	NH-A	brain
10	chr5:118472600-118487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:118472800-118484400	Weak transcription	Psoas Muscle	Psoas
12	chr5:118472800-118484600	Weak transcription	Spleen	Spleen
13	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:118472800-118505000	Weak transcription	HepG2	liver
15	chr5:118473000-118484400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:118473000-118484400	Weak transcription	HSMMtube	muscle
17	chr5:118473000-118484600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:118473000-118484600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:118473000-118484600	Weak transcription	Aorta	Aorta
20	chr5:118473000-118484600	Weak transcription	Esophagus	oesophagus
21	chr5:118473000-118484600	Weak transcription	Gastric	stomach
22	chr5:118473000-118484600	Weak transcription	Hela-S3	cervix
23	chr5:118473000-118484800	Weak transcription	Lung	lung
24	chr5:118473000-118485400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:118473000-118497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:118473200-118484400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:118473200-118484600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:118473200-118484600	Weak transcription	Colonic Mucosa	Colon
29	chr5:118473400-118484400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:118473400-118489200	Weak transcription	K562	blood
31	chr5:118473400-118496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:118473600-118484400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:118473600-118484400	Weak transcription	Brain Anterior Caudate	brain
34	chr5:118473800-118505000	Weak transcription	A549	lung
35	chr5:118474000-118484600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:118475000-118484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:118475000-118484600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:118475600-118484400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:118475800-118484600	Weak transcription	Fetal Kidney	kidney
40	chr5:118477600-118484400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:118478800-118491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
43	chr5:118479200-118484400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:118479400-118485000	Weak transcription	Fetal Stomach	stomach
45	chr5:118480000-118493000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:118480200-118490600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:118480600-118484400	Weak transcription	Fetal Brain Female	brain
48	chr5:118480600-118489800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr5:118481400-118485400	Weak transcription	Fetal Intestine Small	intestine
50	chr5:118481400-118486800	Strong transcription	Liver	Liver

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