Variant report

Variant	rs547952451
Chromosome Location	chr19:38187301-38187302
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	chr19:38134173..38137861-chr19:38186479..38189500,3	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv978813	chr19:38187175-38188871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38183200-38208800	Weak transcription	Fetal Heart	heart
2	chr19:38183400-38187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:38183400-38187400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38183400-38187400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:38183400-38188800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr19:38183400-38190000	Weak transcription	Stomach Mucosa	stomach
7	chr19:38183600-38187400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:38183600-38187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:38183600-38187400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr19:38183600-38187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:38183600-38187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:38183600-38187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:38183600-38187400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:38183600-38187400	Weak transcription	Aorta	Aorta
15	chr19:38183600-38187400	Weak transcription	Brain Germinal Matrix	brain
16	chr19:38183600-38187400	Weak transcription	Fetal Intestine Large	intestine
17	chr19:38183600-38187400	Weak transcription	Fetal Intestine Small	intestine
18	chr19:38183600-38187400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:38183600-38187400	Weak transcription	Left Ventricle	heart
20	chr19:38183600-38187400	Weak transcription	Ovary	ovary
21	chr19:38183600-38187400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:38183600-38187400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:38183600-38187400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:38183600-38187400	Weak transcription	Right Ventricle	heart
25	chr19:38183600-38187400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:38183600-38187400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:38183600-38187400	Weak transcription	Spleen	Spleen
28	chr19:38183600-38187400	Weak transcription	NHLF	lung
29	chr19:38183600-38187600	Weak transcription	Primary T cells from cord blood	blood
30	chr19:38183600-38187600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:38183600-38187600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:38183600-38187800	Weak transcription	Primary B cells from cord blood	blood
33	chr19:38183600-38187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:38183600-38188000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:38183600-38188800	Weak transcription	Fetal Kidney	kidney
36	chr19:38183600-38189400	Weak transcription	Psoas Muscle	Psoas
37	chr19:38183600-38190000	Weak transcription	Small Intestine	intestine
38	chr19:38183800-38187400	Weak transcription	Fetal Brain Female	brain
39	chr19:38183800-38187400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:38183800-38187600	Weak transcription	Placenta	Placenta
41	chr19:38183800-38187600	Weak transcription	Fetal Thymus	thymus
42	chr19:38184200-38187400	Weak transcription	Brain Anterior Caudate	brain
43	chr19:38184200-38187600	Weak transcription	HSMMtube	muscle
44	chr19:38184200-38187800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:38184200-38188600	Weak transcription	Fetal Brain Male	brain
46	chr19:38184200-38201200	Weak transcription	Colonic Mucosa	Colon
47	chr19:38184400-38187400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr19:38184400-38187400	Weak transcription	Brain Angular Gyrus	brain
49	chr19:38184400-38187400	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:38184400-38187400	Weak transcription	Brain Inferior Temporal Lobe	brain

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