Variant report

Variant	rs533623198
Chromosome Location	chr19:40594628-40594629
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40593483..40595649-chr19:40598012..40600965,2	K562	blood:
2	chr19:40558581..40561504-chr19:40593898..40595454,2	K562	blood:
3	chr19:40560174..40562165-chr19:40594393..40596020,2	MCF-7	breast:
4	chr19:40586085..40589151-chr19:40591998..40594903,3	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

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	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv2488	chr19:40593818-40631406	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40581800-40595600	Weak transcription	Stomach Mucosa	stomach
2	chr19:40583000-40595400	Weak transcription	NHLF	lung
3	chr19:40583200-40595400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:40583200-40595400	Weak transcription	Lung	lung
5	chr19:40583200-40595400	Weak transcription	Psoas Muscle	Psoas
6	chr19:40583200-40595400	Weak transcription	NH-A	brain
7	chr19:40583200-40596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:40583400-40595400	Weak transcription	Small Intestine	intestine
9	chr19:40583800-40595400	Weak transcription	Right Ventricle	heart
10	chr19:40586600-40594800	Weak transcription	Fetal Heart	heart
11	chr19:40586600-40595400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:40586600-40595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:40586800-40595400	Weak transcription	Hela-S3	cervix
14	chr19:40587200-40595400	Weak transcription	Placenta	Placenta
15	chr19:40588800-40594800	Weak transcription	Fetal Kidney	kidney
16	chr19:40589200-40594800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:40589200-40595400	Weak transcription	HSMMtube	muscle
18	chr19:40589400-40595200	Weak transcription	HMEC	breast
19	chr19:40589400-40595400	Weak transcription	HSMM	muscle
20	chr19:40589400-40595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:40589400-40595600	Weak transcription	Osteobl	bone
22	chr19:40589600-40595000	Weak transcription	K562	blood
23	chr19:40589600-40595000	Weak transcription	NHDF-Ad	bronchial
24	chr19:40589600-40595200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:40589600-40595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:40589600-40595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:40589600-40595800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr19:40589800-40595400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:40589800-40595400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:40590200-40595000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:40590200-40595200	Weak transcription	Brain Substantia Nigra	brain
32	chr19:40590400-40595400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:40590400-40595400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:40590600-40594800	Weak transcription	NHEK	skin
35	chr19:40590600-40595200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:40590600-40595200	Weak transcription	Brain Anterior Caudate	brain
37	chr19:40590600-40595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:40590800-40595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:40590800-40595200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:40590800-40595200	Weak transcription	Fetal Lung	lung
41	chr19:40590800-40595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr19:40590800-40595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:40590800-40595400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr19:40590800-40595400	Weak transcription	HUVEC	blood vessel
45	chr19:40591000-40595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:40591000-40595000	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:40591000-40595200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:40591000-40595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:40591000-40595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:40591000-40595200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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