Variant report

Variant	rs62427183
Chromosome Location	chr6:144988859-144988860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144983668..144985899-chr6:144987093..144989829,3	K562	blood:

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

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

rs_ID	r²[population]
rs17801051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009684	1.00[ASN][1000 genomes]
rs57461230	1.00[ASN][1000 genomes]
rs57772972	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61515235	1.00[ASN][1000 genomes]
rs62427191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909505	1.00[ASN][1000 genomes]
rs73591939	1.00[ASN][1000 genomes]
rs73591971	1.00[ASN][1000 genomes]
rs73597504	1.00[ASN][1000 genomes]
rs73597515	1.00[ASN][1000 genomes]
rs73597587	1.00[ASN][1000 genomes]
rs73599510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73599519	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7776354	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv604822	chr6:144968195-145001887	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1032838	chr6:144978504-145110121	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144978800-144989800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:144980800-144989200	Weak transcription	Left Ventricle	heart
3	chr6:144981200-144996400	Weak transcription	Pancreas	Pancrea
4	chr6:144981200-145031000	Weak transcription	Placenta	Placenta
5	chr6:144982000-144996200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:144982600-144996200	Weak transcription	HSMM	muscle
7	chr6:144982800-144992200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:144982800-145010000	Weak transcription	Fetal Stomach	stomach
9	chr6:144983000-144992600	Weak transcription	HSMMtube	muscle
10	chr6:144983000-145024600	Weak transcription	Fetal Kidney	kidney
11	chr6:144984800-144996200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:144985000-144989200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:144985000-144989800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:144985000-145004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:144985200-144989800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:144985600-144989600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:144986000-144990000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr6:144986200-145002000	Weak transcription	Small Intestine	intestine
19	chr6:144986800-144989400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:144986800-144989600	Enhancers	Primary B cells from peripheral blood	blood
21	chr6:144987000-144989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:144987000-144989400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:144987200-144989000	Enhancers	Primary B cells from cord blood	blood
24	chr6:144987200-144990600	Weak transcription	Dnd41	blood
25	chr6:144987400-144990600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:144987600-144991000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:144987800-144990800	Weak transcription	Primary T cells from cord blood	blood
28	chr6:144988000-144989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:144988000-144989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:144988600-144989200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr6:144988600-144990800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:144988600-144992400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:144988600-144995800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:144988800-144989200	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:144988800-144990200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:144988800-144991000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:144988800-144991600	Weak transcription	Primary hematopoietic stem cells	blood

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