Variant report

Variant	rs422523
Chromosome Location	chr5:81034560-81034561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81034005..81036819-chr5:81039221..81041707,3	K562	blood:
2	chr5:81018633..81021063-chr5:81032875..81035374,3	K562	blood:
3	chr5:81033193..81036120-chr5:81145161..81147369,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12186581	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160079	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347597	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34007998	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365241	0.84[ASN][1000 genomes]
rs371705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374479	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs382523	0.82[ASN][1000 genomes]
rs389860	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs393766	0.92[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs396231	0.91[GIH][hapmap];0.91[MEX][hapmap]
rs398666	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402352	0.86[ASN][1000 genomes]
rs402433	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403777	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs403795	0.84[ASN][1000 genomes]
rs406283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411520	0.86[ASN][1000 genomes]
rs411840	0.81[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs411990	0.84[ASN][1000 genomes]
rs418033	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs419435	0.86[ASN][1000 genomes]
rs420202	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs420412	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs421348	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs424762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424844	0.86[ASN][1000 genomes]
rs425897	0.84[ASN][1000 genomes]
rs432617	0.86[ASN][1000 genomes]
rs437417	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs446064	0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs452314	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs586695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827065	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:37 , 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	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
3	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
4	chr5:81018600-81038400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:81020800-81039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:81022800-81036400	Weak transcription	Fetal Thymus	thymus
7	chr5:81024000-81036400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:81028600-81044200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:81028800-81035600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:81029400-81038200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:81029800-81040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:81030200-81043000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:81030400-81035200	Weak transcription	Fetal Heart	heart
14	chr5:81030400-81039600	Weak transcription	Primary T cells from cord blood	blood
15	chr5:81031800-81040400	Weak transcription	Fetal Brain Female	brain
16	chr5:81031800-81043000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:81032000-81038200	Weak transcription	K562	blood
18	chr5:81032000-81045000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:81032200-81035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr5:81032200-81035800	Weak transcription	Fetal Brain Male	brain
21	chr5:81032200-81036600	Weak transcription	Small Intestine	intestine
22	chr5:81032200-81043600	Weak transcription	Fetal Lung	lung
23	chr5:81032200-81044400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:81032200-81045000	Weak transcription	Ovary	ovary
25	chr5:81032200-81045000	Weak transcription	Psoas Muscle	Psoas
26	chr5:81032200-81045200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:81032200-81045200	Weak transcription	Esophagus	oesophagus
28	chr5:81032200-81045200	Weak transcription	Pancreas	Pancrea
29	chr5:81032600-81044800	Weak transcription	HSMM	muscle
30	chr5:81033000-81035200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:81033600-81035200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:81033600-81035400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr5:81033800-81035000	Enhancers	Thymus	Thymus
34	chr5:81033800-81035400	ZNF genes & repeats	GM12878-XiMat	blood
35	chr5:81033800-81042000	Genic enhancers	Dnd41	blood
36	chr5:81034000-81042200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:81034400-81034600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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