Variant report

Variant	rs550653981
Chromosome Location	chr19:44512597-44512598
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
2	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
3	chr19:44505048..44507661-chr19:44511684..44514598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159882	Chromatin interaction
ENSG00000266921	Chromatin interaction
ENSG00000124459	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv961225	chr19:44512566-44513320	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44508400-44512800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:44508400-44513000	Weak transcription	K562	blood
4	chr19:44508400-44513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:44508400-44513600	Weak transcription	Hela-S3	cervix
6	chr19:44508600-44512600	Weak transcription	NHDF-Ad	bronchial
7	chr19:44509200-44520600	ZNF genes & repeats	Liver	Liver
8	chr19:44509400-44516800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:44509400-44518200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:44509800-44516600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr19:44509800-44517000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44509800-44517400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr19:44510000-44517000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:44510000-44517000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:44510000-44517200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:44510000-44517400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:44510200-44513000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:44510200-44516600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr19:44510200-44517000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:44510200-44517400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:44510200-44517600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr19:44510400-44516400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:44510400-44517200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:44510400-44517600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:44510400-44517600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:44510600-44513200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44510600-44513600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:44510600-44514400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44510600-44516200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
30	chr19:44510600-44516600	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr19:44510600-44516600	ZNF genes & repeats	A549	lung
32	chr19:44510600-44517000	ZNF genes & repeats	Fetal Lung	lung
33	chr19:44510600-44517400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:44510600-44517600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:44510800-44512600	Strong transcription	Brain Hippocampus Middle	brain
36	chr19:44510800-44512800	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:44510800-44513600	Strong transcription	Osteobl	bone
38	chr19:44510800-44516400	ZNF genes & repeats	Dnd41	blood
39	chr19:44510800-44516600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:44510800-44516600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr19:44510800-44516600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr19:44510800-44516800	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr19:44510800-44517000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr19:44510800-44517200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:44510800-44517200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:44511000-44512600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:44511000-44512800	Strong transcription	Gastric	stomach
48	chr19:44511000-44513400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:44511000-44514200	Strong transcription	Brain Angular Gyrus	brain
50	chr19:44511000-44515400	ZNF genes & repeats	Aorta	Aorta

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