Variant report

Variant	rs273488
Chromosome Location	chr19:18236654-18236655
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	chr19:18232557..18234314-chr19:18236219..18238580,2	K562	blood:
2	chr19:18235373..18237747-chr19:18238992..18241829,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099308	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11666281	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11666424	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11666906	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668601	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs273492	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273507	0.83[ASN][1000 genomes]
rs273510	0.83[ASN][1000 genomes]
rs4808114	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808115	0.89[ASN][1000 genomes]
rs4808745	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4808751	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56252442	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56345159	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60146811	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66464318	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67234314	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72999447	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72999466	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs885683	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv911246	chr19:18224729-18283501	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
18	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv2429	chr19:18234179-18279381	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18229400-18243000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18229600-18237000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:18229800-18239000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:18229800-18239000	Weak transcription	Left Ventricle	heart
5	chr19:18229800-18241400	Weak transcription	HSMM	muscle
6	chr19:18229800-18243000	Weak transcription	Fetal Kidney	kidney
7	chr19:18230000-18239600	Weak transcription	Osteobl	bone
8	chr19:18230000-18241400	Weak transcription	NHDF-Ad	bronchial
9	chr19:18230200-18239400	Weak transcription	Right Ventricle	heart
10	chr19:18230200-18241200	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:18230200-18246600	Weak transcription	Hela-S3	cervix
12	chr19:18230200-18247200	Weak transcription	NHEK	skin
13	chr19:18230400-18239400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:18230600-18236800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:18230600-18243000	Weak transcription	K562	blood
16	chr19:18230800-18239400	Weak transcription	Stomach Mucosa	stomach
17	chr19:18230800-18246200	Strong transcription	Fetal Intestine Small	intestine
18	chr19:18230800-18262000	Weak transcription	Dnd41	blood
19	chr19:18231000-18243000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:18231000-18243000	Weak transcription	Fetal Brain Male	brain
21	chr19:18231000-18262200	Weak transcription	HMEC	breast
22	chr19:18231400-18262200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:18231400-18262400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:18231800-18246200	Strong transcription	Fetal Intestine Large	intestine
25	chr19:18232000-18237400	Strong transcription	Brain Cingulate Gyrus	brain
26	chr19:18232000-18238800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:18232000-18244000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:18232000-18262200	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:18232200-18237400	Strong transcription	Primary T cells from cord blood	blood
30	chr19:18232200-18237400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:18232200-18237600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:18232200-18237800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18232200-18237800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:18232200-18237800	Strong transcription	Liver	Liver
35	chr19:18232200-18237800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:18232200-18238400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:18232200-18246400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr19:18232200-18260000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:18232200-18260000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:18232200-18261800	Strong transcription	Fetal Stomach	stomach
41	chr19:18232400-18237200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:18232400-18237400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:18232400-18237400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:18232400-18237400	Strong transcription	Fetal Thymus	thymus
45	chr19:18232400-18237600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:18232400-18237600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:18232400-18237800	Strong transcription	Pancreas	Pancrea
48	chr19:18232400-18260600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:18232600-18237400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:18232600-18237400	Strong transcription	Aorta	Aorta

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