Variant report

Variant	rs274150
Chromosome Location	chr19:56673491-56673492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56671026..56674616-chr19:56677144..56679269,3	K562	blood:
2	chr19:56673116..56675836-chr19:56676117..56678644,2	K562	blood:
3	chr19:56664832..56668754-chr19:56669452..56673649,4	K562	blood:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2637084	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2637085	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs274142	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs274147	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs274148	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs274149	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274153	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274176	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274178	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274179	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs274184	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs274185	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs482506	0.80[AMR][1000 genomes]
rs488118	0.83[AMR][1000 genomes]
rs502722	0.87[ASN][1000 genomes]
rs568068	0.81[ASN][1000 genomes]
rs651800	0.83[AMR][1000 genomes]
rs657357	0.83[ASN][1000 genomes]
rs679557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
2	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
5	chr19:56663200-56674000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr19:56663800-56673600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:56664800-56673800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:56664800-56673800	Strong transcription	Fetal Intestine Small	intestine
9	chr19:56665000-56674000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:56665200-56674000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:56665200-56674400	Strong transcription	Fetal Stomach	stomach
12	chr19:56665400-56674000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr19:56665400-56674200	Strong transcription	Fetal Brain Female	brain
14	chr19:56665800-56674200	Strong transcription	Brain Germinal Matrix	brain
15	chr19:56667000-56674800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:56668000-56675400	Weak transcription	Primary B cells from cord blood	blood
17	chr19:56668600-56673600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:56668600-56673600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr19:56668600-56673800	Strong transcription	Spleen	Spleen
20	chr19:56668800-56674600	Weak transcription	Stomach Mucosa	stomach
21	chr19:56669600-56674000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:56669800-56673800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:56670200-56674000	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:56670200-56674000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:56670200-56678000	Weak transcription	HepG2	liver
26	chr19:56670400-56674000	Strong transcription	Right Ventricle	heart
27	chr19:56670800-56675000	Weak transcription	Brain Substantia Nigra	brain
28	chr19:56670800-56675200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr19:56670800-56675400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:56670800-56681600	Weak transcription	A549	lung
31	chr19:56670800-56681800	Weak transcription	NHEK	skin
32	chr19:56671000-56673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:56671000-56674600	Weak transcription	Fetal Lung	lung
34	chr19:56671000-56675400	Weak transcription	Osteobl	bone
35	chr19:56671600-56683200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr19:56671800-56676000	Weak transcription	Small Intestine	intestine
37	chr19:56672000-56673600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:56672000-56674000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr19:56672000-56674600	Weak transcription	Aorta	Aorta
40	chr19:56672000-56677000	Weak transcription	Colonic Mucosa	Colon
41	chr19:56672200-56673600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:56672200-56674200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:56672200-56683200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:56672400-56674200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:56672400-56675200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:56672400-56683200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:56672600-56674000	Genic enhancers	Fetal Thymus	thymus
48	chr19:56672600-56674800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:56672600-56675400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr19:56672600-56675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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