Variant report

Variant	rs417590
Chromosome Location	chr5:81036805-81036806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81034741..81036819-chr5:81039221..81041707,2	K562	blood:
2	chr5:81034005..81036819-chr5:81039221..81041707,3	K562	blood:
3	chr5:81036698..81038199-chr5:81047468..81049173,2	K562	blood:
4	chr5:81012199..81014802-chr5:81035367..81038326,2	K562	blood:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16899099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406720	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417304	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447132	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs452349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595307	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707925	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:43 , 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	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:81029400-81038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:81029800-81040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:81030200-81043000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:81030400-81039600	Weak transcription	Primary T cells from cord blood	blood
10	chr5:81031800-81040400	Weak transcription	Fetal Brain Female	brain
11	chr5:81031800-81043000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:81032000-81038200	Weak transcription	K562	blood
13	chr5:81032000-81045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:81032200-81043600	Weak transcription	Fetal Lung	lung
15	chr5:81032200-81044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:81032200-81045000	Weak transcription	Ovary	ovary
17	chr5:81032200-81045000	Weak transcription	Psoas Muscle	Psoas
18	chr5:81032200-81045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:81032200-81045200	Weak transcription	Esophagus	oesophagus
20	chr5:81032200-81045200	Weak transcription	Pancreas	Pancrea
21	chr5:81032600-81044800	Weak transcription	HSMM	muscle
22	chr5:81033800-81042000	Genic enhancers	Dnd41	blood
23	chr5:81034000-81042200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:81034600-81041800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:81035000-81044200	Weak transcription	Thymus	Thymus
26	chr5:81035400-81038400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:81035400-81041800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:81035400-81045000	Weak transcription	Left Ventricle	heart
29	chr5:81035600-81044600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:81036000-81037000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr5:81036000-81037600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:81036200-81038200	Weak transcription	Fetal Brain Male	brain
33	chr5:81036400-81037000	Enhancers	Colon Smooth Muscle	Colon
34	chr5:81036400-81040000	Strong transcription	Fetal Thymus	thymus
35	chr5:81036400-81042800	Weak transcription	NHLF	lung
36	chr5:81036600-81040200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:81036600-81044200	Weak transcription	Fetal Heart	heart
38	chr5:81036800-81037200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr5:81036800-81037800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:81036800-81038800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:81036800-81039600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:81036800-81040400	Weak transcription	Brain Germinal Matrix	brain
43	chr5:81036800-81044600	Weak transcription	Fetal Kidney	kidney

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