Variant report

Variant	rs2914377
Chromosome Location	chr19:53748502-53748503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10401578	0.88[ASN][1000 genomes]
rs10425196	0.85[ASN][1000 genomes]
rs11084227	0.85[ASN][1000 genomes]
rs11084228	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129002	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666631	0.92[ASN][1000 genomes]
rs12972588	0.89[ASN][1000 genomes]
rs12982260	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984188	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984473	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985503	0.88[ASN][1000 genomes]
rs17272966	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411117	0.97[ASN][1000 genomes]
rs2865241	0.93[ASN][1000 genomes]
rs28734122	0.85[ASN][1000 genomes]
rs2914371	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2914372	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914376	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914378	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914383	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914384	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2965222	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965236	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965237	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965238	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965240	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965242	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2965243	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2965244	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3097248	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111319	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114232	0.85[ASN][1000 genomes]
rs4803069	0.85[ASN][1000 genomes]
rs4803071	0.98[ASN][1000 genomes]
rs4803080	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779655	0.98[ASN][1000 genomes]
rs62117791	0.97[ASN][1000 genomes]
rs71363315	0.82[ASN][1000 genomes]
rs8113436	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1064604	chr19:53730688-53751243	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv580079	chr19:53732590-53756120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1055236	chr19:53739483-53778339	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1059899	chr19:53744560-53768337	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1064070	chr19:53744560-53769702	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
2	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:53738600-53749000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:53739600-53748600	ZNF genes & repeats	Brain Anterior Caudate	brain
11	chr19:53739600-53748600	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:53740000-53749800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr19:53740000-53750600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:53740000-53756400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:53740000-53756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr19:53740000-53756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:53740200-53748800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr19:53740200-53748800	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr19:53740200-53749000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr19:53740200-53749000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr19:53740200-53749000	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr19:53740200-53750600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr19:53740200-53752600	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr19:53740200-53756800	ZNF genes & repeats	Fetal Lung	lung
26	chr19:53740200-53757600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:53740400-53748600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr19:53740400-53748800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:53740400-53749000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr19:53740400-53749000	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr19:53740400-53749000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
32	chr19:53740400-53749000	ZNF genes & repeats	Dnd41	blood
33	chr19:53740400-53756800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr19:53740600-53750600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr19:53740800-53748800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr19:53742800-53748800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:53743000-53748800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr19:53743000-53749000	ZNF genes & repeats	Brain Angular Gyrus	brain
39	chr19:53743000-53749200	ZNF genes & repeats	Ovary	ovary
40	chr19:53743000-53750800	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr19:53743000-53756600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr19:53744400-53748800	ZNF genes & repeats	Fetal Kidney	kidney
43	chr19:53744800-53750600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr19:53745200-53756600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:53746400-53748800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
46	chr19:53746400-53748800	ZNF genes & repeats	Osteobl	bone
47	chr19:53747200-53749600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:53747200-53752400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr19:53747400-53749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:53747400-53753600	Weak transcription	Placenta Amnion	Placenta Amnion

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