Variant report

Variant	rs530305352
Chromosome Location	chr5:177954746-177954747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv462571	chr5:177898650-177961860	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv600424	chr5:177898650-177961860	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv471059	chr5:177919951-177965696	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv600427	chr5:177954516-177968251	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177952800-177956400	Enhancers	Left Ventricle	heart
3	chr5:177953000-177954800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:177953000-177954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177953000-177954800	Enhancers	Right Atrium	heart
6	chr5:177953000-177955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:177953000-177956000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:177953000-177956800	Enhancers	Right Ventricle	heart
9	chr5:177953200-177955000	Enhancers	Fetal Heart	heart
10	chr5:177953200-177955400	Enhancers	Fetal Stomach	stomach
11	chr5:177953200-177955800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:177953600-177955000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:177953800-177954800	Enhancers	Psoas Muscle	Psoas
14	chr5:177953800-177955200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:177953800-177955200	Enhancers	Fetal Muscle Leg	muscle
16	chr5:177953800-177956200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:177954000-177955200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr5:177954000-177955400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr5:177954000-177955400	Enhancers	Fetal Brain Male	brain
20	chr5:177954000-177955600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:177954200-177954800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:177954200-177956200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:177954400-177954800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:177954400-177959600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:177954600-177954800	Enhancers	Esophagus	oesophagus
26	chr5:177954600-177954800	Enhancers	Fetal Thymus	thymus
27	chr5:177954600-177954800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:177954600-177955000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:177954600-177955200	Enhancers	Fetal Brain Female	brain
30	chr5:177954600-177955200	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:177954600-177955200	Enhancers	NHEK	skin
32	chr5:177954600-177958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:177954600-177959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:177954600-177959200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:177954600-177959800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell

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