Variant report

Variant	rs551553479
Chromosome Location	chr5:73983254-73983255
allele	C/T
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	chr5:73981324..73983563-chr5:74077397..74079724,2	K562	blood:
4	chr5:73981661..73984902-chr5:74226605..74228461,3	K562	blood:
5	chr5:73980953..73983731-chr5:74012002..74014571,3	MCF-7	breast:
6	chr5:73983027..73985005-chr5:74061405..74062936,2	K562	blood:
7	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:

Variant related genes	Relation type
ENSG00000164347	Chromatin interaction
ENSG00000239517	Chromatin interaction
ENSG00000164346	Chromatin interaction
ENSG00000049860	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	chr5:73981600-73983400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:73981600-73983400	Flanking Active TSS	Brain Anterior Caudate	brain
3	chr5:73981600-73983400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr5:73981600-73983400	Flanking Active TSS	Hela-S3	cervix
5	chr5:73981800-73983400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:73981800-73983400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:73981800-73983400	Flanking Active TSS	NHLF	lung
8	chr5:73982000-73983400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:73982000-73983400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:73982000-73983400	Enhancers	Right Atrium	heart
11	chr5:73982000-73983400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:73982000-73988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:73982000-73989000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:73982000-73994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:73982000-74002200	Weak transcription	Fetal Brain Female	brain
16	chr5:73982000-74017400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:73982200-73983400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:73982200-73983400	Enhancers	Liver	Liver
20	chr5:73982200-73983400	Enhancers	Psoas Muscle	Psoas
21	chr5:73982200-73983400	Enhancers	Stomach Mucosa	stomach
22	chr5:73982200-73984600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:73982200-73985000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:73982200-73985200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:73982200-73987200	Weak transcription	Fetal Lung	lung
26	chr5:73982200-74020600	Weak transcription	Fetal Brain Male	brain
27	chr5:73982400-73983400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:73982400-73983400	Enhancers	Primary B cells from cord blood	blood
29	chr5:73982400-73983400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr5:73982400-73983400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:73982400-73983400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:73982400-73983400	Enhancers	Colonic Mucosa	Colon
33	chr5:73982400-73983400	Enhancers	Placenta	Placenta
34	chr5:73982400-73983400	Enhancers	Pancreas	Pancrea
35	chr5:73982400-73983400	Enhancers	Right Ventricle	heart
36	chr5:73982400-73983400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:73982400-73985200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:73982400-73985400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:73982400-73985400	Weak transcription	HSMM	muscle
40	chr5:73982400-73988000	Weak transcription	Fetal Stomach	stomach
41	chr5:73982400-73988400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:73982400-73989000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:73982400-73989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:73982400-73989200	Weak transcription	HSMMtube	muscle
45	chr5:73982400-73989600	Weak transcription	Fetal Thymus	thymus
46	chr5:73982400-73989800	Weak transcription	Thymus	Thymus
47	chr5:73982400-73993000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:73982400-73994600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:73982400-73998200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:73982400-73999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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