Variant report

Variant	rs149144967
Chromosome Location	chr19:52908514-52908515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52903104..52905523-chr19:52907320..52908934,2	K562	blood:

Variant related genes	Relation type
ENSG00000167555	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	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
6	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv521079	chr19:52886137-52917626	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv978840	chr19:52905026-52909427	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52901800-52912600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:52902000-52908800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:52902000-52913800	Weak transcription	Fetal Heart	heart
4	chr19:52902200-52908800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:52902200-52909200	Strong transcription	Placenta	Placenta
6	chr19:52902200-52909800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:52902200-52913800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:52902200-52917400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:52902200-52919200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:52902400-52910400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:52902400-52913400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:52902400-52913400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr19:52902400-52917600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:52902600-52910400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:52902600-52913000	Strong transcription	Fetal Stomach	stomach
16	chr19:52902600-52913600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr19:52902600-52914000	ZNF genes & repeats	Lung	lung
18	chr19:52902600-52917600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:52902600-52918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr19:52902800-52912800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:52902800-52913400	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr19:52902800-52914000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:52902800-52914200	Strong transcription	Brain Anterior Caudate	brain
24	chr19:52902800-52914200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:52902800-52915600	Strong transcription	HSMMtube	muscle
26	chr19:52902800-52924200	ZNF genes & repeats	Liver	Liver
27	chr19:52903000-52911800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:52903000-52913000	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:52903000-52913600	Strong transcription	Brain Cingulate Gyrus	brain
30	chr19:52903000-52913600	Strong transcription	Brain Hippocampus Middle	brain
31	chr19:52903000-52914000	ZNF genes & repeats	Ovary	ovary
32	chr19:52903000-52916200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:52903200-52911800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:52903200-52916800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:52903400-52912600	Strong transcription	Dnd41	blood
36	chr19:52903600-52912200	Strong transcription	Fetal Lung	lung
37	chr19:52903600-52912600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr19:52903800-52909200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:52903800-52910600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:52904200-52914000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr19:52904200-52917200	Strong transcription	Brain Germinal Matrix	brain
42	chr19:52904200-52917600	Strong transcription	Right Ventricle	heart
43	chr19:52904400-52910600	Strong transcription	NH-A	brain
44	chr19:52904400-52913400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:52904400-52916200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:52904400-52916200	Strong transcription	Brain Angular Gyrus	brain
47	chr19:52904400-52916600	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr19:52905000-52908600	Strong transcription	Colon Smooth Muscle	Colon
49	chr19:52905000-52910200	Strong transcription	Fetal Kidney	kidney
50	chr19:52905000-52910800	ZNF genes & repeats	Adipose Nuclei	Adipose

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