Variant report

Variant	rs553918799
Chromosome Location	chr5:73982898-73982899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:73969331..73972056-chr5:73981357..73983781,2	MCF-7	breast:
2	chr5:73981038..73983852-chr5:73999852..74002635,2	MCF-7	breast:
3	chr5:73980885..73983030-chr5:74062980..74064496,2	MCF-7	breast:
4	chr5:73981324..73983563-chr5:74077397..74079724,2	K562	blood:
5	chr5:73981661..73984902-chr5:74226605..74228461,3	K562	blood:
6	chr5:73980953..73983731-chr5:74012002..74014571,3	MCF-7	breast:
7	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:

Variant related genes	Relation type
ENSG00000049860	Chromatin interaction
ENSG00000164346	Chromatin interaction
ENSG00000164347	Chromatin interaction
ENSG00000239517	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv934214	chr5:73981349-73993050	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv933165	chr5:73981599-73993050	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73981400-73983000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
2	chr5:73981400-73983200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:73981400-73983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:73981400-73983200	Flanking Active TSS	Dnd41	blood
5	chr5:73981600-73983000	Enhancers	Fetal Heart	heart
6	chr5:73981600-73983000	Flanking Active TSS	Osteobl	bone
7	chr5:73981600-73983400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:73981600-73983400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr5:73981600-73983400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr5:73981600-73983400	Flanking Active TSS	Hela-S3	cervix
11	chr5:73981800-73983000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:73981800-73983200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:73981800-73983200	Enhancers	Spleen	Spleen
14	chr5:73981800-73983400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:73981800-73983400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr5:73981800-73983400	Flanking Active TSS	NHLF	lung
17	chr5:73982000-73983000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:73982000-73983000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:73982000-73983000	Transcr. at gene 5' and 3'	K562	blood
20	chr5:73982000-73983200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:73982000-73983200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:73982000-73983200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:73982000-73983200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr5:73982000-73983200	Enhancers	Small Intestine	intestine
25	chr5:73982000-73983200	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:73982000-73983200	Flanking Active TSS	NHDF-Ad	bronchial
27	chr5:73982000-73983400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:73982000-73983400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr5:73982000-73983400	Enhancers	Right Atrium	heart
30	chr5:73982000-73983400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr5:73982000-73988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:73982000-73989000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:73982000-73994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:73982000-74002200	Weak transcription	Fetal Brain Female	brain
35	chr5:73982000-74017400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:73982200-73983000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:73982200-73983000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:73982200-73983000	Enhancers	Colon Smooth Muscle	Colon
40	chr5:73982200-73983200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:73982200-73983200	Enhancers	Aorta	Aorta
42	chr5:73982200-73983200	Enhancers	Esophagus	oesophagus
43	chr5:73982200-73983200	Enhancers	A549	lung
44	chr5:73982200-73983200	Flanking Active TSS	HepG2	liver
45	chr5:73982200-73983200	Transcr. at gene 5' and 3'	NHEK	skin
46	chr5:73982200-73983400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr5:73982200-73983400	Enhancers	Liver	Liver
48	chr5:73982200-73983400	Enhancers	Psoas Muscle	Psoas
49	chr5:73982200-73983400	Enhancers	Stomach Mucosa	stomach
50	chr5:73982200-73984600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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