Variant report

Variant	rs548633668
Chromosome Location	chr19:37715968-37715969
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37714409..37716526-chr19:37718369..37720746,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF383-2	chr19:37715720-37716114	NONHSAT066078

Variant related genes	Relation type
ENSG00000188283	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
12	nsv960833	chr19:37715348-37733416	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
2	chr19:37710000-37716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:37710000-37716000	Weak transcription	Fetal Thymus	thymus
4	chr19:37710000-37717000	Weak transcription	NH-A	brain
5	chr19:37710000-37717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:37710200-37716000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr19:37710200-37716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:37710200-37716200	Weak transcription	Brain Germinal Matrix	brain
13	chr19:37710200-37716200	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:37710200-37716200	Weak transcription	Colonic Mucosa	Colon
15	chr19:37710200-37716200	Weak transcription	Fetal Kidney	kidney
16	chr19:37710200-37716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:37710200-37716200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:37710200-37716200	Weak transcription	HSMMtube	muscle
19	chr19:37710200-37716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:37710200-37716400	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:37710200-37716800	Weak transcription	Small Intestine	intestine
22	chr19:37710200-37717000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:37710200-37718400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37710200-37718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:37710200-37718800	Weak transcription	HUVEC	blood vessel
26	chr19:37710200-37718800	Weak transcription	NHLF	lung
27	chr19:37710200-37719000	Weak transcription	HepG2	liver
28	chr19:37710200-37720800	Weak transcription	K562	blood
29	chr19:37710200-37723800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
30	chr19:37710200-37725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr19:37710200-37725600	Weak transcription	Fetal Heart	heart
32	chr19:37710200-37728600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:37710400-37716200	Weak transcription	Fetal Brain Female	brain
34	chr19:37710400-37716800	Weak transcription	Pancreas	Pancrea
35	chr19:37710400-37724200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
37	chr19:37710600-37716200	Weak transcription	Brain Angular Gyrus	brain
38	chr19:37710600-37716200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:37710600-37716400	Weak transcription	Brain Substantia Nigra	brain
40	chr19:37710600-37716400	Weak transcription	Psoas Muscle	Psoas
41	chr19:37710600-37717000	Weak transcription	Gastric	stomach
42	chr19:37710600-37717200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:37710600-37718400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:37710600-37718400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:37710600-37725600	Weak transcription	Fetal Brain Male	brain
46	chr19:37711000-37717200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:37711000-37718400	Weak transcription	Right Ventricle	heart
48	chr19:37711000-37737000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:37711000-37737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:37711200-37725000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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