Variant report

Variant	rs550885567
Chromosome Location	chr19:52895873-52895874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52893005..52896642-chr19:52900305..52903556,3	MCF-7	breast:
2	chr19:52894967..52896731-chr19:52899629..52901485,2	K562	blood:
3	chr19:52894785..52896519-chr19:52899562..52901653,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF83-1	chr19:52892095-52896456	ENSG00000246015

Variant related genes	Relation type
ENSG00000269834	Chromatin interaction
ENSG00000167555	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	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	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	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
10	esv3372061	chr19:52877189-52902218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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	11 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv580025	chr19:52890176-52895885	ZNF genes & repeats Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52888000-52897600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:52888600-52898600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:52889000-52897600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:52889000-52898200	Weak transcription	Brain Angular Gyrus	brain
5	chr19:52889000-52898200	Weak transcription	Brain Anterior Caudate	brain
6	chr19:52889200-52900800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:52889800-52898600	Weak transcription	Fetal Heart	heart
8	chr19:52890600-52897600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:52890600-52898600	Weak transcription	NHDF-Ad	bronchial
10	chr19:52890800-52897600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:52891200-52896600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr19:52891200-52899600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr19:52891400-52896800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:52891600-52899800	ZNF genes & repeats	Fetal Brain Female	brain
15	chr19:52891800-52896600	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr19:52892200-52898200	Weak transcription	HSMMtube	muscle
17	chr19:52893000-52898200	Weak transcription	Brain Substantia Nigra	brain
18	chr19:52893400-52900200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:52893600-52897600	Weak transcription	Dnd41	blood
20	chr19:52893600-52898200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:52893600-52898200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:52893800-52896400	Weak transcription	Fetal Lung	lung
23	chr19:52893800-52896800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:52893800-52897400	Weak transcription	Ovary	ovary
25	chr19:52893800-52897600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:52893800-52898000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:52893800-52899600	Weak transcription	Right Ventricle	heart
28	chr19:52894000-52897600	Weak transcription	Pancreas	Pancrea
29	chr19:52894000-52898200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr19:52894000-52900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr19:52894600-52897400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:52894600-52897800	Weak transcription	Osteobl	bone
33	chr19:52894600-52898000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:52895000-52896600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:52895200-52896600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:52895200-52898200	Weak transcription	HSMM	muscle
37	chr19:52895400-52897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:52895600-52896400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:52895600-52900400	ZNF genes & repeats	Fetal Stomach	stomach
40	chr19:52895800-52896600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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