Variant report

Variant	rs162122
Chromosome Location	chr19:52917640-52917641
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	chr19:52908988..52911904-chr19:52916328..52918022,2	K562	blood:

Variant related genes	Relation type
ENSG00000167555	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10401152	1.00[EUR][1000 genomes]
rs11883016	1.00[EUR][1000 genomes]
rs162121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2560994	1.00[EUR][1000 genomes]
rs2608512	1.00[EUR][1000 genomes]
rs2608516	1.00[EUR][1000 genomes]
rs324090	1.00[EUR][1000 genomes]
rs324109	1.00[EUR][1000 genomes]
rs7249342	1.00[EUR][1000 genomes]
rs7252819	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers 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	24 gene(s)	inside rSNPs	diseases
3	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv828615	chr19:52888767-52936555	ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3412133	chr19:52907745-52935907	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52902200-52919200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:52902600-52918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:52902800-52924200	ZNF genes & repeats	Liver	Liver
4	chr19:52905000-52920800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:52905000-52923800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:52905200-52917800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:52906400-52920600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:52906600-52921000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr19:52907400-52918000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr19:52907400-52919000	ZNF genes & repeats	Aorta	Aorta
11	chr19:52908200-52919400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:52908600-52920800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:52911200-52918000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:52911400-52922000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:52911800-52923600	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr19:52912000-52919600	ZNF genes & repeats	Left Ventricle	heart
17	chr19:52912200-52918400	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr19:52912200-52918600	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr19:52912200-52920000	ZNF genes & repeats	Fetal Lung	lung
20	chr19:52912600-52918600	ZNF genes & repeats	Dnd41	blood
21	chr19:52912600-52920400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr19:52912800-52918000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:52912800-52918200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:52913000-52918200	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr19:52913000-52918400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:52913000-52922000	ZNF genes & repeats	Fetal Brain Female	brain
27	chr19:52913400-52918800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52913400-52918800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr19:52913400-52920000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr19:52913400-52920200	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr19:52913600-52918800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr19:52913800-52919600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:52914000-52918000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:52914200-52919400	ZNF genes & repeats	Brain Anterior Caudate	brain
35	chr19:52914800-52917800	Weak transcription	Fetal Brain Male	brain
36	chr19:52914800-52917800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr19:52915000-52917800	ZNF genes & repeats	Ovary	ovary
38	chr19:52915000-52918800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:52915200-52918200	ZNF genes & repeats	Colonic Mucosa	Colon
40	chr19:52915200-52918200	ZNF genes & repeats	Fetal Stomach	stomach
41	chr19:52915400-52919000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr19:52915600-52918200	ZNF genes & repeats	Thymus	Thymus
43	chr19:52915600-52919200	ZNF genes & repeats	HSMMtube	muscle
44	chr19:52915600-52919600	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr19:52915800-52918400	ZNF genes & repeats	HSMM	muscle
46	chr19:52915800-52920800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
47	chr19:52916000-52919800	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr19:52916200-52917800	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr19:52916200-52918400	ZNF genes & repeats	NH-A	brain
50	chr19:52916200-52920400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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