Variant report

Variant	rs274149
Chromosome Location	chr19:56674064-56674065
allele	A/C
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	chr19:56673116..56675836-chr19:56676117..56678644,2	K562	blood:

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

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

rs_ID	r²[population]
rs2637084	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2637085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs274142	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs274147	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs274148	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs274150	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs274153	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs274176	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs274178	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274179	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274184	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs274185	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482506	0.80[AMR][1000 genomes]
rs488118	0.83[AMR][1000 genomes]
rs502722	0.88[ASN][1000 genomes]
rs568068	0.80[ASN][1000 genomes]
rs651800	0.83[AMR][1000 genomes]
rs657357	0.81[ASN][1000 genomes]
rs679557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:56661400-56676200	Weak transcription	Fetal Brain Male	brain
3	chr19:56665200-56674400	Strong transcription	Fetal Stomach	stomach
4	chr19:56665400-56674200	Strong transcription	Fetal Brain Female	brain
5	chr19:56665800-56674200	Strong transcription	Brain Germinal Matrix	brain
6	chr19:56667000-56674800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:56668000-56675400	Weak transcription	Primary B cells from cord blood	blood
8	chr19:56668800-56674600	Weak transcription	Stomach Mucosa	stomach
9	chr19:56670200-56678000	Weak transcription	HepG2	liver
10	chr19:56670800-56675000	Weak transcription	Brain Substantia Nigra	brain
11	chr19:56670800-56675200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:56670800-56675400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:56670800-56681600	Weak transcription	A549	lung
14	chr19:56670800-56681800	Weak transcription	NHEK	skin
15	chr19:56671000-56674600	Weak transcription	Fetal Lung	lung
16	chr19:56671000-56675400	Weak transcription	Osteobl	bone
17	chr19:56671600-56683200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:56671800-56676000	Weak transcription	Small Intestine	intestine
19	chr19:56672000-56674600	Weak transcription	Aorta	Aorta
20	chr19:56672000-56677000	Weak transcription	Colonic Mucosa	Colon
21	chr19:56672200-56674200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:56672200-56683200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:56672400-56674200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:56672400-56675200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:56672400-56683200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:56672600-56674800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:56672600-56675400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:56672600-56675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:56672600-56676800	Weak transcription	Brain Angular Gyrus	brain
30	chr19:56672600-56678800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:56672600-56681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:56672600-56681800	Weak transcription	Ovary	ovary
33	chr19:56672600-56684200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr19:56672600-56685600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56672800-56674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:56672800-56674400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:56672800-56674400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr19:56672800-56674600	Weak transcription	Left Ventricle	heart
39	chr19:56672800-56674800	Weak transcription	NHLF	lung
40	chr19:56672800-56675000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:56672800-56675200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:56672800-56675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:56672800-56675200	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:56672800-56675600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:56672800-56675600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:56672800-56676600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:56672800-56681200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr19:56672800-56681600	Weak transcription	Esophagus	oesophagus
49	chr19:56672800-56683200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:56672800-56683200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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