Variant report

Variant	rs274151
Chromosome Location	chr19:56672815-56672816
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	chr19:56671026..56674616-chr19:56677144..56679269,3	K562	blood:
2	chr19:56664832..56668754-chr19:56669452..56673649,4	K562	blood:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2631642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2631652	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs274141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274144	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274145	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs274146	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs274154	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs274156	0.84[EUR][1000 genomes]
rs274159	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs274163	0.85[EUR][1000 genomes]
rs274165	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs274167	0.83[EUR][1000 genomes]
rs274180	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274182	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3103059	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3103060	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs480528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs481291	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs482506	0.84[ASN][1000 genomes]
rs487922	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488118	0.84[ASN][1000 genomes]
rs488196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs565171	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs581486	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61283021	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs650832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs651800	0.84[ASN][1000 genomes]
rs652204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs671061	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs679082	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs901476	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
2	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
3	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:56659200-56673000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
7	chr19:56663000-56673200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr19:56663200-56674000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:56663800-56673000	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:56663800-56673600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:56664000-56673000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:56664800-56673800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:56664800-56673800	Strong transcription	Fetal Intestine Small	intestine
14	chr19:56665000-56674000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:56665200-56673400	Strong transcription	Gastric	stomach
16	chr19:56665200-56674000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:56665200-56674400	Strong transcription	Fetal Stomach	stomach
18	chr19:56665400-56673200	Weak transcription	HUVEC	blood vessel
19	chr19:56665400-56674000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr19:56665400-56674200	Strong transcription	Fetal Brain Female	brain
21	chr19:56665600-56673200	Strong transcription	Thymus	Thymus
22	chr19:56665600-56673400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:56665800-56673000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:56665800-56674200	Strong transcription	Brain Germinal Matrix	brain
25	chr19:56666000-56673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:56666000-56673200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:56666000-56673200	Strong transcription	Placenta	Placenta
28	chr19:56666400-56673400	Strong transcription	Primary T cells from cord blood	blood
29	chr19:56666800-56673200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:56667000-56673400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:56667000-56673400	Strong transcription	Liver	Liver
32	chr19:56667000-56674800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:56668000-56675400	Weak transcription	Primary B cells from cord blood	blood
34	chr19:56668600-56673200	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:56668600-56673600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr19:56668600-56673600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:56668600-56673800	Strong transcription	Spleen	Spleen
38	chr19:56668800-56673400	Strong transcription	Pancreas	Pancrea
39	chr19:56668800-56674600	Weak transcription	Stomach Mucosa	stomach
40	chr19:56669000-56673200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:56669000-56673200	Strong transcription	Brain Hippocampus Middle	brain
42	chr19:56669000-56673400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:56669400-56673200	Strong transcription	Adipose Nuclei	Adipose
44	chr19:56669400-56673400	Strong transcription	Brain Anterior Caudate	brain
45	chr19:56669600-56673000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr19:56669600-56673200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:56669600-56673200	Strong transcription	Lung	lung
48	chr19:56669600-56673400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:56669600-56674000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:56669800-56673200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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