Variant report

Variant	rs73597504
Chromosome Location	chr6:144952130-144952131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17801051	1.00[ASN][1000 genomes]
rs4392731	1.00[ASN][1000 genomes]
rs4530873	1.00[ASN][1000 genomes]
rs56009684	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57461230	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57772972	1.00[ASN][1000 genomes]
rs61515235	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427183	1.00[ASN][1000 genomes]
rs62427191	1.00[ASN][1000 genomes]
rs62427192	1.00[ASN][1000 genomes]
rs62427193	1.00[ASN][1000 genomes]
rs6909505	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73591939	1.00[ASN][1000 genomes]
rs73591971	1.00[ASN][1000 genomes]
rs73597515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73597587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599510	1.00[ASN][1000 genomes]
rs73599519	1.00[ASN][1000 genomes]
rs7776354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144914800-144960000	Weak transcription	Lung	lung
2	chr6:144929600-144955200	Weak transcription	HepG2	liver
3	chr6:144930400-144957600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:144930600-144973000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:144930800-144957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:144931000-144958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:144939000-144959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:144943600-144953800	Weak transcription	Gastric	stomach
9	chr6:144946000-144952200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:144946000-144961000	Weak transcription	Left Ventricle	heart
11	chr6:144946000-144965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:144947000-144964800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:144947000-144969200	Weak transcription	Fetal Kidney	kidney
14	chr6:144948000-144956800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:144948400-144973600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:144949000-144965200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:144949200-144980200	Weak transcription	Fetal Thymus	thymus
18	chr6:144949800-144952200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:144950200-144973600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:144950600-144957000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:144951000-144974800	Weak transcription	Primary B cells from cord blood	blood
22	chr6:144951200-144974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:144951600-144975000	Weak transcription	Primary T cells from cord blood	blood
24	chr6:144951800-144952400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:144951800-144952600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:144951800-144953000	Enhancers	Fetal Heart	heart
27	chr6:144951800-144977600	Weak transcription	Dnd41	blood
28	chr6:144952000-144952600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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