Variant report

Variant	rs573503505
Chromosome Location	chr5:145596853-145596854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:145581405..145584024-chr5:145596123..145597883,2	K562	blood:
2	chr5:145595165..145597126-chr5:145598903..145601685,2	K562	blood:
3	chr5:145591065..145593762-chr5:145596165..145598951,2	K562	blood:
4	chr5:145596117..145598265-chr5:145605012..145606909,2	K562	blood:
5	chr5:145596366..145598063-chr5:145648958..145650482,2	K562	blood:

Variant related genes	Relation type
ENSG00000091009	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883006	chr5:145450586-145672431	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428128	chr5:145503978-145682880	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv883007	chr5:145506100-145672431	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv883008	chr5:145509728-145642925	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv883009	chr5:145567877-145672431	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv462475	chr5:145583623-145642007	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv599935	chr5:145583623-145642007	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv883010	chr5:145583623-145651979	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv883011	chr5:145583623-145672431	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv523502	chr5:145588483-145639987	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv883012	chr5:145589542-145672431	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv883013	chr5:145595837-145651979	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145584400-145598800	Weak transcription	NH-A	brain
2	chr5:145584400-145606600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:145584600-145606400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:145584800-145597200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:145584800-145599000	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:145584800-145608000	Weak transcription	Esophagus	oesophagus
7	chr5:145584800-145631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:145585000-145598800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:145585000-145599000	Weak transcription	Fetal Brain Female	brain
10	chr5:145585000-145602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:145585200-145598600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:145585200-145598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:145585200-145598800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:145585200-145598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:145585200-145598800	Weak transcription	HMEC	breast
16	chr5:145585200-145598800	Weak transcription	NHEK	skin
17	chr5:145585200-145609200	Weak transcription	Brain Anterior Caudate	brain
18	chr5:145585400-145597400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:145585400-145598200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:145585400-145598200	Weak transcription	HUVEC	blood vessel
21	chr5:145585400-145598400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:145585400-145609000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:145585600-145597400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:145585600-145599000	Weak transcription	Thymus	Thymus
25	chr5:145585600-145599200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:145585600-145601000	Weak transcription	Right Atrium	heart
27	chr5:145585600-145610200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:145585800-145598400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:145585800-145598800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:145585800-145601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:145586000-145599000	Weak transcription	HSMM	muscle
32	chr5:145586200-145597000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:145586400-145598800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:145586400-145604000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:145586400-145616800	Weak transcription	Right Ventricle	heart
36	chr5:145586800-145598600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:145587000-145597400	Weak transcription	Psoas Muscle	Psoas
38	chr5:145588200-145597600	Weak transcription	Dnd41	blood
39	chr5:145588200-145598200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:145588200-145599000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:145588200-145608000	Weak transcription	Gastric	stomach
42	chr5:145588200-145609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:145589000-145633200	Weak transcription	Brain Angular Gyrus	brain
44	chr5:145589200-145599000	Weak transcription	Aorta	Aorta
45	chr5:145589200-145615400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:145589400-145599000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr5:145589400-145610200	Weak transcription	Fetal Kidney	kidney
48	chr5:145589600-145597800	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:145589600-145597800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:145589600-145598800	Weak transcription	Rectal Smooth Muscle	rectum

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