Variant report

Variant	rs60146811
Chromosome Location	chr19:18221213-18221214
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18221176..18222928-chr19:18303351..18306807,3	MCF-7	breast:
2	chr19:18207114..18212211-chr19:18216815..18222515,8	K562	blood:
3	chr19:18220149..18221787-chr19:18528170..18529964,2	K562	blood:
4	chr19:18220648..18224657-chr19:18263294..18266426,4	MCF-7	breast:
5	chr19:18212286..18215069-chr19:18221126..18224068,2	K562	blood:
6	chr19:18206855..18210303-chr19:18216702..18222515,7	K562	blood:
7	chr19:18218810..18222219-chr19:18263257..18265639,4	K562	blood:
8	chr19:18219638..18222219-chr19:18263591..18265639,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254858	Chromatin interaction
ENSG00000096996	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000099308	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11666281	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11666424	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11666906	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11668601	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs273488	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273492	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs273507	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs273510	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808114	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808115	0.89[ASN][1000 genomes]
rs4808745	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808751	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56252442	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56345159	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6512246	0.80[AFR][1000 genomes]
rs66464318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67234314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72999447	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72999466	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs885683	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
6	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 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	chr19:18219800-18222000	Flanking Active TSS	Colonic Mucosa	Colon
2	chr19:18220000-18221800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:18220200-18221400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:18220200-18221400	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr19:18220200-18221400	Active TSS	HepG2	liver
6	chr19:18220200-18221800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:18220200-18221800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:18220200-18222000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr19:18220400-18221400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:18220400-18221400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:18220400-18221400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:18220400-18221400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr19:18220400-18221400	Active TSS	Left Ventricle	heart
14	chr19:18220400-18221600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:18220400-18221600	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:18220400-18221600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:18220400-18221600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:18220400-18221600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:18220400-18221600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr19:18220400-18221600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr19:18220400-18221800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:18220400-18221800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:18220400-18221800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr19:18220400-18221800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr19:18220400-18221800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:18220400-18221800	Enhancers	Fetal Heart	heart
27	chr19:18220400-18221800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:18220400-18221800	Flanking Active TSS	HMEC	breast
29	chr19:18220600-18221400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:18220600-18221400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:18220600-18221400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:18220600-18221400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:18220600-18221400	Active TSS	Primary monocytes fromperipheralblood	blood
34	chr19:18220600-18221400	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr19:18220600-18221400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:18220600-18221400	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:18220600-18221400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:18220600-18221400	Active TSS	Brain Angular Gyrus	brain
39	chr19:18220600-18221400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:18220600-18221400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:18220600-18221400	Active TSS	Duodenum Mucosa	Duodenum
42	chr19:18220600-18221400	Active TSS	Gastric	stomach
43	chr19:18220600-18221400	Active TSS	Pancreas	Pancrea
44	chr19:18220600-18221400	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
45	chr19:18220600-18221400	Active TSS	Psoas Muscle	Psoas
46	chr19:18220600-18221400	Transcr. at gene 5' and 3'	Right Atrium	heart
47	chr19:18220600-18221400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr19:18220600-18221400	Active TSS	Small Intestine	intestine
49	chr19:18220600-18221400	Active TSS	A549	lung
50	chr19:18220600-18221400	Active TSS	Hela-S3	cervix

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