Variant report

Variant	rs562238268
Chromosome Location	chr5:81040814-81040815
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80940231..80942233-chr5:81040176..81042074,2	K562	blood:
2	chr5:81034005..81036819-chr5:81039221..81041707,3	K562	blood:
3	chr5:81029893..81032355-chr5:81038922..81041227,2	K562	blood:
4	chr5:81034741..81036819-chr5:81039221..81041707,2	K562	blood:
5	chr5:81037454..81039351-chr5:81039497..81041595,2	K562	blood:
6	chr5:81037974..81042783-chr5:81043087..81048522,6	K562	blood:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
3	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:81030200-81043000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:81031800-81043000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:81032000-81045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:81032200-81043600	Weak transcription	Fetal Lung	lung
8	chr5:81032200-81044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:81032200-81045000	Weak transcription	Ovary	ovary
10	chr5:81032200-81045000	Weak transcription	Psoas Muscle	Psoas
11	chr5:81032200-81045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:81032200-81045200	Weak transcription	Esophagus	oesophagus
13	chr5:81032200-81045200	Weak transcription	Pancreas	Pancrea
14	chr5:81032600-81044800	Weak transcription	HSMM	muscle
15	chr5:81033800-81042000	Genic enhancers	Dnd41	blood
16	chr5:81034000-81042200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:81034600-81041800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:81035000-81044200	Weak transcription	Thymus	Thymus
19	chr5:81035400-81041800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:81035400-81045000	Weak transcription	Left Ventricle	heart
21	chr5:81035600-81044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:81036400-81042800	Weak transcription	NHLF	lung
23	chr5:81036600-81044200	Weak transcription	Fetal Heart	heart
24	chr5:81036800-81044600	Weak transcription	Fetal Kidney	kidney
25	chr5:81037000-81041600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr5:81037000-81043000	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:81037200-81042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:81037200-81045000	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:81037600-81044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:81038600-81044400	Weak transcription	K562	blood
31	chr5:81038600-81045200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:81038800-81042200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:81039800-81045000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:81040000-81041400	Weak transcription	Primary T cells from cord blood	blood
35	chr5:81040000-81041400	Weak transcription	Fetal Brain Male	brain
36	chr5:81040000-81041600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:81040000-81042800	Weak transcription	Fetal Thymus	thymus
38	chr5:81040000-81043000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:81040200-81041200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:81040200-81043000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:81040200-81043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:81040400-81041200	Active TSS	Fetal Brain Female	brain
43	chr5:81040400-81041600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:81040400-81041600	Enhancers	GM12878-XiMat	blood
45	chr5:81040400-81043400	Enhancers	Brain Germinal Matrix	brain
46	chr5:81040600-81041000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:81040600-81044000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:81040800-81041200	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:81040800-81041800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:81040800-81043400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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