Variant report

Variant	rs1619049
Chromosome Location	chr6:119040726-119040727
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	chr6:119033951..119036534-chr6:119040434..119042277,2	K562	blood:
2	chr6:119040106..119042403-chr6:119044771..119046416,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1546084	0.86[EUR][1000 genomes]
rs1546085	0.86[EUR][1000 genomes]
rs1771746	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72964971	0.83[EUR][1000 genomes]
rs9481854	0.86[EUR][1000 genomes]
rs9489512	0.86[EUR][1000 genomes]
rs9489516	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	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
12	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription 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	8 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1619049	C6orf204	cis	cerebellum	SCAN
rs1619049	VGLL2	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119031600-119044400	Weak transcription	Fetal Heart	heart
2	chr6:119031600-119045600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:119039000-119042200	Enhancers	Thymus	Thymus
4	chr6:119039000-119043000	Enhancers	Fetal Thymus	thymus
5	chr6:119039000-119043800	Enhancers	Primary T cells from cord blood	blood
6	chr6:119039000-119043800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr6:119039000-119045000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:119039000-119045000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr6:119039000-119046000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:119039200-119041200	Enhancers	Fetal Muscle Leg	muscle
11	chr6:119039200-119043800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:119039400-119041200	Enhancers	K562	blood
13	chr6:119039400-119042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:119039400-119043000	Enhancers	Dnd41	blood
15	chr6:119039400-119043200	Enhancers	Primary B cells from cord blood	blood
16	chr6:119039400-119048600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:119039600-119041200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:119039600-119042200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:119039800-119040800	Enhancers	NHDF-Ad	bronchial
20	chr6:119039800-119041600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:119040000-119040800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:119040000-119040800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:119040000-119040800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:119040000-119040800	Enhancers	HSMMtube	muscle
25	chr6:119040000-119041000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:119040000-119041400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:119040000-119041800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:119040000-119042000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:119040200-119040800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:119040200-119040800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:119040200-119040800	Enhancers	NHLF	lung
32	chr6:119040200-119041200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:119040200-119041200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:119040200-119041800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:119040400-119040800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:119040400-119040800	Enhancers	Ovary	ovary
37	chr6:119040400-119040800	Enhancers	Psoas Muscle	Psoas
38	chr6:119040400-119041200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr6:119040400-119041200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr6:119040400-119041200	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:119040400-119041200	Flanking Active TSS	GM12878-XiMat	blood
42	chr6:119040400-119041200	Enhancers	HSMM	muscle
43	chr6:119040400-119042000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr6:119040600-119040800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:119040600-119041000	Enhancers	Fetal Lung	lung
46	chr6:119040600-119041000	Enhancers	NH-A	brain
47	chr6:119040600-119041600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:119040600-119041800	Enhancers	Primary hematopoietic stem cells	blood
49	chr6:119040600-119042000	Enhancers	Monocytes-CD14+_RO01746	blood

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