Variant report

Variant	rs13346419
Chromosome Location	chr19:21272985-21272986
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21267358..21270716-chr19:21272495..21275149,3	MCF-7	breast:
2	chr19:21264288..21266539-chr19:21271478..21272991,2	MCF-7	breast:
3	chr19:21264764..21267719-chr19:21267936..21273188,6	K562	blood:
4	chr19:21263410..21266735-chr19:21269462..21274138,5	K562	blood:

Variant related genes	Relation type
ENSG00000160352	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10404877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10411360	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10411471	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413561	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10425562	0.85[AMR][1000 genomes]
rs11880964	0.91[LWK][hapmap]
rs13345905	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28500793	0.85[AMR][1000 genomes]
rs73537710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537721	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73537753	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking 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	32 gene(s)	inside rSNPs	diseases
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
4	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
18	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21247400-21289600	Weak transcription	Aorta	Aorta
2	chr19:21265400-21274800	Weak transcription	Lung	lung
3	chr19:21265600-21273400	Weak transcription	Left Ventricle	heart
4	chr19:21265600-21273800	Weak transcription	Esophagus	oesophagus
5	chr19:21265600-21275000	Weak transcription	Pancreas	Pancrea
6	chr19:21265600-21286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:21265600-21295800	Weak transcription	Small Intestine	intestine
8	chr19:21265600-21300000	Weak transcription	Brain Angular Gyrus	brain
9	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
10	chr19:21265800-21275000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:21265800-21275000	Weak transcription	Primary B cells from cord blood	blood
12	chr19:21265800-21275000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:21265800-21275400	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:21265800-21282600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr19:21265800-21289800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:21265800-21290600	Weak transcription	Adipose Nuclei	Adipose
17	chr19:21265800-21297200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:21265800-21297200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:21265800-21299600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr19:21265800-21299800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:21266000-21274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:21266000-21275000	Weak transcription	Fetal Heart	heart
26	chr19:21266000-21276400	Weak transcription	Fetal Intestine Small	intestine
27	chr19:21266000-21278800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:21266000-21286000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:21266000-21287600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:21266000-21287800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:21266000-21288400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr19:21266000-21289400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:21266000-21290800	Weak transcription	Brain Anterior Caudate	brain
34	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr19:21266000-21290800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:21266000-21292600	Weak transcription	Fetal Kidney	kidney
37	chr19:21266000-21297400	Weak transcription	HUVEC	blood vessel
38	chr19:21266200-21273400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:21266200-21273800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:21266200-21274600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:21266200-21274600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:21266200-21275000	Weak transcription	Fetal Stomach	stomach
43	chr19:21266200-21276400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr19:21266200-21288600	Weak transcription	Thymus	Thymus
45	chr19:21266200-21288800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:21266200-21289800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:21266200-21292400	Weak transcription	Primary T cells from cord blood	blood
48	chr19:21266200-21296600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:21266200-21301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:21266400-21275000	Weak transcription	Colon Smooth Muscle	Colon

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