Variant report

Variant	rs398738
Chromosome Location	chr5:81028427-81028428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81022356..81025954-chr5:81027509..81030484,4	K562	blood:
2	chr5:81025124..81028928-chr5:81046978..81048834,3	K562	blood:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1550802	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs368516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs392675	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs649872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
5	chr5:81016000-81031800	Weak transcription	Ovary	ovary
6	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
7	chr5:81018000-81031600	Weak transcription	Brain Angular Gyrus	brain
8	chr5:81018600-81033800	Weak transcription	Thymus	Thymus
9	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:81019800-81029000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:81021000-81033600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:81021200-81029800	Weak transcription	Primary T cells from cord blood	blood
14	chr5:81021600-81033600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:81022400-81028600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:81022400-81028800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:81022800-81036400	Weak transcription	Fetal Thymus	thymus
18	chr5:81023800-81031800	Weak transcription	Psoas Muscle	Psoas
19	chr5:81024000-81031800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:81024000-81036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:81024400-81030400	Weak transcription	Fetal Brain Female	brain
22	chr5:81026800-81030000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:81028200-81028600	Enhancers	Primary B cells from cord blood	blood
24	chr5:81028200-81029200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:81028200-81029200	Enhancers	Fetal Brain Male	brain
26	chr5:81028400-81028600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:81028400-81028800	Enhancers	Colon Smooth Muscle	Colon
28	chr5:81028400-81029200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:81028400-81030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:81028400-81030400	Enhancers	Dnd41	blood

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