Variant report

Variant	rs1296440
Chromosome Location	chr6:119121030-119121031
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	chr6:119120439..119121965-chr6:119219112..119221592,2	K562	blood:
2	chr6:118971950..118973530-chr6:119120433..119122628,2	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12527198	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12527201	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284921	0.91[ASN][1000 genomes]
rs429185	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs445573	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs65685	0.91[ASN][1000 genomes]
rs706972	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv886568	chr6:119044453-119132164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv886569	chr6:119055873-119132164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119108800-119136000	Weak transcription	Aorta	Aorta
2	chr6:119109200-119121600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:119109400-119121400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:119109800-119121200	Weak transcription	Left Ventricle	heart
5	chr6:119110200-119121600	Weak transcription	Thymus	Thymus
6	chr6:119113800-119136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:119116600-119136200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:119117400-119121200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:119117600-119121200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:119117800-119121200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:119117800-119121200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:119117800-119121200	Weak transcription	HepG2	liver
13	chr6:119117800-119125800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:119118000-119121200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:119118000-119121400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:119118200-119121200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:119118200-119121200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:119118800-119121200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:119118800-119121200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:119119000-119121200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:119119000-119121200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:119119000-119121200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:119119400-119121200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:119121000-119121200	Enhancers	Brain Anterior Caudate	brain
25	chr6:119121000-119121400	Enhancers	Dnd41	blood

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