Variant report

Variant	rs6595181
Chromosome Location	chr5:118630362-118630363
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118618433..118619971-chr5:118628433..118631229,2	K562	blood:
2	chr5:118628112..118630562-chr5:118637638..118639181,2	K562	blood:
3	chr5:118629010..118630794-chr5:118752161..118754078,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10054006	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10058039	0.85[AFR][1000 genomes]
rs10463708	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890983	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6891989	0.98[AFR][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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118625400-118637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:118627400-118635600	Weak transcription	A549	lung
3	chr5:118627600-118635800	Weak transcription	Thymus	Thymus
4	chr5:118628000-118631800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:118628000-118634800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr5:118628000-118634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118628000-118637000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118628000-118637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:118628000-118637200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:118628000-118637800	Weak transcription	Aorta	Aorta
11	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118628200-118634600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:118628200-118634800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr5:118628200-118635600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:118628200-118635800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:118628600-118635400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr5:118629200-118634800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:118629400-118634400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:118629400-118634600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118629400-118635400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:118629400-118635400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:118629600-118634600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:118629600-118635000	Weak transcription	Fetal Thymus	thymus
24	chr5:118629600-118635400	Weak transcription	Dnd41	blood

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