Variant report

Variant	rs1734246
Chromosome Location	chr5:112046069-112046070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112044064..112046268-chr5:112246769..112248546,2	K562	blood:
2	chr5:112046065..112047695-chr5:112050891..112052551,2	K562	blood:
3	chr5:112041577..112049243-chr5:112069735..112074802,8	K562	blood:
4	chr5:111887498..111890102-chr5:112044744..112046649,2	MCF-7	breast:
5	chr5:112041486..112046402-chr5:112068342..112076365,12	K562	blood:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11953943	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11960216	0.97[EUR][1000 genomes]
rs1644239	0.82[EUR][1000 genomes]
rs1644241	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1644242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1661032	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1661034	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1697914	1.00[CEU][hapmap];0.95[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697916	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134960	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs1734244	0.95[EUR][1000 genomes]
rs1734245	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1734247	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1882619	0.95[GIH][hapmap]
rs2431505	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs2431507	0.90[CEU][hapmap];0.90[GIH][hapmap];0.84[EUR][1000 genomes]
rs2431508	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2431509	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2431511	0.99[EUR][1000 genomes]
rs2439590	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2439592	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2439593	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2439594	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2455294	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2455296	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464802	0.86[EUR][1000 genomes]
rs2464808	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464810	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2909784	0.99[EUR][1000 genomes]
rs2909961	0.99[EUR][1000 genomes]
rs2909962	0.90[CEU][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs73220022	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112042600-112046200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:112043000-112048200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:112044200-112046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:112044200-112046600	Weak transcription	Gastric	stomach
5	chr5:112044200-112047000	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:112044200-112049400	Weak transcription	Esophagus	oesophagus
7	chr5:112044400-112046200	Enhancers	Stomach Mucosa	stomach
8	chr5:112044400-112046800	Enhancers	Spleen	Spleen
9	chr5:112044400-112047000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:112044400-112049200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:112044400-112049800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:112044600-112048000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:112044800-112046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112044800-112046200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:112044800-112046200	Enhancers	Fetal Stomach	stomach
16	chr5:112044800-112046400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:112044800-112046800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:112044800-112046800	Enhancers	Fetal Lung	lung
19	chr5:112044800-112047400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr5:112044800-112047400	Enhancers	Fetal Thymus	thymus
21	chr5:112044800-112047400	Enhancers	Thymus	Thymus
22	chr5:112044800-112047600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:112044800-112047800	Enhancers	Brain Angular Gyrus	brain
24	chr5:112044800-112049400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:112044800-112050200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:112044800-112052200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:112044800-112058000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:112044800-112058800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:112045000-112046400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:112045000-112046400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:112045000-112046600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:112045000-112046800	Enhancers	HepG2	liver
33	chr5:112045000-112047000	Enhancers	Fetal Heart	heart
34	chr5:112045000-112047200	Enhancers	Right Ventricle	heart
35	chr5:112045000-112048000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr5:112045000-112048000	Enhancers	K562	blood
37	chr5:112045000-112049600	Enhancers	Psoas Muscle	Psoas
38	chr5:112045200-112046200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:112045200-112046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:112045200-112046200	Enhancers	Primary T cells from cord blood	blood
41	chr5:112045200-112046600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:112045200-112046800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:112045200-112047000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:112045200-112047400	Enhancers	Primary B cells from cord blood	blood
45	chr5:112045200-112047400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:112045200-112047400	Enhancers	Fetal Intestine Large	intestine
47	chr5:112045200-112047600	Enhancers	Pancreas	Pancrea
48	chr5:112045200-112048000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr5:112045200-112048200	Enhancers	Colon Smooth Muscle	Colon
50	chr5:112045200-112048200	Enhancers	Duodenum Smooth Muscle	Duodenum

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