Variant report

Variant	rs558421948
Chromosome Location	chr19:52214565-52214566
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
2	chr19:52205873..52210007-chr19:52211189..52216257,9	K562	blood:
3	chr19:52213474..52215839-chr19:52229447..52232151,2	K562	blood:
4	chr19:52197003..52199691-chr19:52213714..52215992,2	MCF-7	breast:
5	chr19:52213474..52218033-chr19:52227253..52233222,6	K562	blood:
6	chr19:52213445..52215561-chr19:52311102..52312961,2	MCF-7	breast:
7	chr19:52214081..52217958-chr19:52222891..52225862,3	K562	blood:

Variant related genes	Relation type
ENSG00000182310	Chromatin interaction
ENSG00000105509	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
12	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
13	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases
14	nsv1059148	chr19:52211749-52359815	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv912297	chr19:52213743-52227066	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52208000-52216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:52208400-52216200	Weak transcription	Fetal Brain Male	brain
3	chr19:52208400-52218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:52208400-52220200	Weak transcription	Ovary	ovary
5	chr19:52208600-52218800	Weak transcription	Fetal Heart	heart
6	chr19:52208800-52214600	Weak transcription	GM12878-XiMat	blood
7	chr19:52208800-52222000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:52209000-52214800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr19:52209600-52222400	Weak transcription	Spleen	Spleen
10	chr19:52210000-52214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:52210400-52216400	Weak transcription	Brain Anterior Caudate	brain
12	chr19:52210400-52216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:52210400-52218200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:52210400-52222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:52210800-52215800	Weak transcription	Fetal Kidney	kidney
16	chr19:52210800-52216400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:52211000-52215000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:52211000-52216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr19:52211000-52216200	Weak transcription	HMEC	breast
20	chr19:52211000-52218000	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:52211200-52216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:52211200-52216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:52211200-52218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:52211400-52215000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:52211400-52215200	Weak transcription	Fetal Muscle Leg	muscle
26	chr19:52211400-52216600	Weak transcription	Fetal Lung	lung
27	chr19:52211400-52219200	Weak transcription	Brain Angular Gyrus	brain
28	chr19:52211600-52214600	Weak transcription	Adipose Nuclei	Adipose
29	chr19:52211600-52214600	Weak transcription	NH-A	brain
30	chr19:52211600-52216200	Weak transcription	Osteobl	bone
31	chr19:52211600-52218400	Weak transcription	K562	blood
32	chr19:52211800-52215600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:52211800-52216200	Weak transcription	NHLF	lung
34	chr19:52213000-52217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:52213200-52214600	Weak transcription	A549	lung
36	chr19:52213200-52216600	Enhancers	Primary B cells from peripheral blood	blood
37	chr19:52213200-52217000	Weak transcription	Esophagus	oesophagus
38	chr19:52213200-52217200	Weak transcription	Placenta	Placenta
39	chr19:52213400-52217000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:52213400-52218000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:52213800-52218200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:52214200-52222400	Weak transcription	HSMM	muscle
43	chr19:52214400-52214600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr19:52214400-52214800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr19:52214400-52215400	Enhancers	Primary B cells from cord blood	blood
46	chr19:52214400-52216600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr19:52214400-52216800	Enhancers	Primary neutrophils fromperipheralblood	blood

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