Variant report

Variant	rs12980843
Chromosome Location	chr19:18055491-18055492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18055450..18057221-chr19:18107817..18109855,2	MCF-7	breast:
2	chr19:17970501..17973186-chr19:18052802..18056454,3	K562	blood:
3	chr19:17904033..17907953-chr19:18053492..18055674,3	K562	blood:
4	chr19:17969582..17973186-chr19:18054020..18056454,3	K562	blood:
5	chr19:18042363..18044515-chr19:18053846..18055491,2	K562	blood:
6	chr19:18051562..18057273-chr19:18105982..18113371,17	K562	blood:
7	chr19:18046806..18048711-chr19:18053789..18055491,3	K562	blood:
8	chr19:18053806..18056439-chr19:18107928..18110413,2	MCF-7	breast:
9	chr19:18053033..18055778-chr19:18313427..18315013,2	K562	blood:
10	chr19:18052069..18059812-chr19:18106129..18113779,16	K562	blood:
11	chr19:18042084..18044515-chr19:18053846..18055873,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105640	Chromatin interaction
ENSG00000007080	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000179913	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10418352	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419228	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11086085	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11672874	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12609274	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610834	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12710311	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12974040	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978072	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12985086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985769	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808724	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808725	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18044600-18058200	Weak transcription	Psoas Muscle	Psoas
2	chr19:18044800-18057000	Weak transcription	Primary B cells from cord blood	blood
3	chr19:18044800-18057800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:18044800-18057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:18044800-18058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:18044800-18058000	Weak transcription	Fetal Brain Male	brain
7	chr19:18044800-18058000	Weak transcription	Fetal Kidney	kidney
8	chr19:18044800-18058000	Weak transcription	Small Intestine	intestine
9	chr19:18044800-18058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:18045000-18057800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:18045000-18058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:18045000-18058000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:18045000-18058000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr19:18045000-18058000	Weak transcription	Fetal Heart	heart
16	chr19:18045000-18058000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:18045200-18058000	Weak transcription	Stomach Mucosa	stomach
18	chr19:18045400-18057000	Weak transcription	GM12878-XiMat	blood
19	chr19:18046800-18056000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr19:18046800-18056000	Strong transcription	Brain Hippocampus Middle	brain
21	chr19:18047000-18055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:18047000-18056200	Strong transcription	Lung	lung
23	chr19:18047200-18055600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:18047800-18058200	Weak transcription	Left Ventricle	heart
25	chr19:18048600-18058000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr19:18049400-18056000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr19:18049800-18056200	Strong transcription	Primary T cells from cord blood	blood
28	chr19:18050200-18055600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:18050200-18056000	Strong transcription	Spleen	Spleen
30	chr19:18050200-18056200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:18050200-18056200	Strong transcription	Fetal Brain Female	brain
32	chr19:18051000-18055600	Strong transcription	Adipose Nuclei	Adipose
33	chr19:18051200-18058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:18051200-18058000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:18051200-18058200	Weak transcription	Aorta	Aorta
36	chr19:18051400-18057600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:18051400-18058000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:18051400-18058000	Weak transcription	Brain Anterior Caudate	brain
39	chr19:18051400-18058000	Weak transcription	Brain Substantia Nigra	brain
40	chr19:18052000-18056800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:18052000-18057200	Weak transcription	Fetal Thymus	thymus
42	chr19:18052400-18056000	Strong transcription	Dnd41	blood
43	chr19:18052400-18056200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:18052400-18056200	Strong transcription	Brain Germinal Matrix	brain
45	chr19:18052600-18055800	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr19:18052800-18057600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr19:18052800-18058000	Weak transcription	Brain Angular Gyrus	brain
48	chr19:18053000-18058000	Weak transcription	Pancreas	Pancrea
49	chr19:18053000-18058000	Weak transcription	Hela-S3	cervix
50	chr19:18053200-18058000	Weak transcription	Liver	Liver

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