Variant report

Variant	rs531872815
Chromosome Location	chr19:38425741-38425742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:
2	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
3	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
4	chr19:38424879..38427033-chr19:38465266..38467452,2	MCF-7	breast:
5	chr19:38423922..38426366-chr19:38436893..38438716,2	MCF-7	breast:
6	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105738	Chromatin interaction
ENSG00000171804	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1064401	chr19:38387797-38427984	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
3	nsv1061106	chr19:38400149-38448723	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv544001	chr19:38400149-38448723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1820125	chr19:38424904-38427984	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:38411800-38426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:38422000-38426400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:38423000-38438200	Weak transcription	Brain Angular Gyrus	brain
6	chr19:38423200-38425800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:38423200-38426000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:38423200-38426200	Weak transcription	Ovary	ovary
9	chr19:38423200-38426600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:38423200-38443000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:38423400-38425800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:38423400-38426000	Weak transcription	Brain Hippocampus Middle	brain
13	chr19:38423400-38426000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:38423400-38426400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:38423400-38427600	Enhancers	Liver	Liver
16	chr19:38423400-38433800	Weak transcription	Thymus	Thymus
17	chr19:38423600-38425800	Enhancers	HMEC	breast
18	chr19:38423600-38444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:38424000-38426000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr19:38424200-38425800	Enhancers	Pancreas	Pancrea
21	chr19:38424400-38426000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:38424400-38426400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr19:38424400-38426800	Weak transcription	Fetal Brain Female	brain
24	chr19:38424400-38427000	Enhancers	Gastric	stomach
25	chr19:38424400-38428000	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr19:38424600-38425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:38424600-38426000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:38424600-38426000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:38424600-38426000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr19:38424600-38426000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:38424600-38426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:38424600-38426200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:38424600-38426200	Weak transcription	Lung	lung
34	chr19:38424600-38429600	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:38424600-38438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:38424600-38439200	Weak transcription	Spleen	Spleen
37	chr19:38424800-38425800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:38424800-38426000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:38424800-38426200	Weak transcription	Fetal Lung	lung
40	chr19:38424800-38426200	Weak transcription	HUVEC	blood vessel
41	chr19:38424800-38427200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr19:38424800-38428000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:38424800-38444000	Weak transcription	NHDF-Ad	bronchial
44	chr19:38425000-38425800	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr19:38425000-38426000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:38425000-38426000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:38425000-38426000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:38425000-38426000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:38425000-38426000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr19:38425000-38426000	Weak transcription	Adipose Nuclei	Adipose

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