Variant report

Variant	rs558358774
Chromosome Location	chr19:40595294-40595295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:40595191-40597631	SK-N-SH	brain:	n/a	n/a
2	SIN3AK20	chr19:40595272-40597271	PANC-1	pancreas:	n/a	n/a

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	chr19:40501950..40503610-chr19:40595158..40598072,2	K562	blood:

Variant related genes	Relation type
ENSG00000269296	TF binding region
ENSG00000187187	Chromatin interaction
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:122 , 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	chr19:40586600-40595400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:40586600-40595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:40586800-40595400	Weak transcription	Hela-S3	cervix
13	chr19:40587200-40595400	Weak transcription	Placenta	Placenta
14	chr19:40589200-40595400	Weak transcription	HSMMtube	muscle
15	chr19:40589400-40595400	Weak transcription	HSMM	muscle
16	chr19:40589400-40595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:40589400-40595600	Weak transcription	Osteobl	bone
18	chr19:40589600-40595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:40589600-40595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:40589600-40595800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:40589800-40595400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:40589800-40595400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:40590400-40595400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:40590400-40595400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:40590600-40595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:40590800-40595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:40590800-40595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr19:40590800-40595400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:40590800-40595400	Weak transcription	HUVEC	blood vessel
30	chr19:40591000-40595400	Weak transcription	Esophagus	oesophagus
31	chr19:40591000-40595400	Weak transcription	Fetal Muscle Leg	muscle
32	chr19:40591000-40595400	Weak transcription	Ovary	ovary
33	chr19:40591000-40595400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:40591000-40595600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:40591200-40595400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:40591200-40595400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:40591200-40595400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr19:40591200-40595400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:40591200-40595400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:40591200-40595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:40591200-40595400	Weak transcription	Fetal Intestine Large	intestine
42	chr19:40591200-40595400	Weak transcription	Fetal Intestine Small	intestine
43	chr19:40591200-40595400	Weak transcription	Fetal Thymus	thymus
44	chr19:40591200-40595400	Weak transcription	Gastric	stomach
45	chr19:40591200-40595400	Weak transcription	Left Ventricle	heart
46	chr19:40591200-40595400	Weak transcription	Pancreas	Pancrea
47	chr19:40591200-40595400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr19:40591200-40595400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:40591200-40595400	Weak transcription	Thymus	Thymus
50	chr19:40591200-40595600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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