Variant report

Variant	rs2469214
Chromosome Location	chr15:76574628-76574629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76573019..76575613-chr15:76581006..76583116,2	K562	blood:
2	chr15:76573073..76575469-chr15:76605288..76607304,2	MCF-7	breast:
3	chr15:76572907..76574984-chr15:76602296..76604808,2	K562	blood:
4	chr15:76573739..76576523-chr15:76603684..76605605,3	K562	blood:
5	chr15:76572935..76575613-chr15:76581006..76583216,3	K562	blood:

Variant related genes	Relation type
ENSG00000140374	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11858964	0.85[EUR][1000 genomes]
rs157777	0.87[CEU][hapmap]
rs157778	0.87[CEU][hapmap]
rs1801591	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1810348	1.00[CEU][hapmap];0.90[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs1914816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2078437	0.87[CEU][hapmap]
rs2255408	0.85[ASN][1000 genomes]
rs2291449	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2456033	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456040	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456042	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456047	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456051	1.00[CHD][hapmap]
rs2456063	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2456066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2456067	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2456074	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456075	0.96[ASN][1000 genomes]
rs2456078	0.96[ASN][1000 genomes]
rs2460146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2460151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2460153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460155	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2460158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2460161	0.87[CEU][hapmap]
rs2469211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2469212	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469216	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469533	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469538	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469544	0.89[ASN][1000 genomes]
rs2469552	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469554	0.87[CEU][hapmap]
rs2469559	1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs2469564	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469568	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2469573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs283796	0.87[CEU][hapmap]
rs284898	0.87[CEU][hapmap]
rs284902	0.87[CEU][hapmap]
rs284903	0.87[CEU][hapmap]
rs284904	0.87[CEU][hapmap]
rs284905	0.87[CEU][hapmap]
rs284907	0.87[CEU][hapmap]
rs2938691	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2956875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2957037	0.82[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2957607	0.87[CEU][hapmap]
rs2957613	0.87[CEU][hapmap]
rs2959846	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387321	0.87[CEU][hapmap]
rs4489970	0.87[EUR][1000 genomes]
rs4886490	1.00[CEU][hapmap];0.90[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs4886491	0.87[CEU][hapmap]
rs4886492	0.86[CEU][hapmap]
rs6495200	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7180257	0.85[EUR][1000 genomes]
rs8031378	0.87[CEU][hapmap]
rs8031672	0.82[CEU][hapmap]
rs8042255	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874223	0.87[EUR][1000 genomes]
rs874224	1.00[CEU][hapmap];0.91[TSI][hapmap];0.87[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	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2469214	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76550600-76578400	Strong transcription	Liver	Liver
2	chr15:76555800-76578800	Weak transcription	Psoas Muscle	Psoas
3	chr15:76555800-76579000	Weak transcription	NHLF	lung
4	chr15:76555800-76586000	Weak transcription	Stomach Mucosa	stomach
5	chr15:76556400-76581400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:76556800-76594600	Weak transcription	Esophagus	oesophagus
7	chr15:76557000-76582800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:76558000-76603000	Weak transcription	Aorta	Aorta
9	chr15:76560000-76582400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:76560200-76578600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:76561000-76574800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:76561000-76576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:76561000-76580400	Strong transcription	Adipose Nuclei	Adipose
14	chr15:76561000-76587600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:76561200-76578400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:76561400-76578800	Strong transcription	Duodenum Mucosa	Duodenum
17	chr15:76562000-76591600	Weak transcription	Small Intestine	intestine
18	chr15:76562600-76586000	Weak transcription	Brain Angular Gyrus	brain
19	chr15:76562800-76580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:76563000-76577000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:76563000-76578200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:76563000-76578400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr15:76563000-76579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:76563000-76581800	Weak transcription	Fetal Brain Male	brain
25	chr15:76563000-76586400	Weak transcription	Fetal Heart	heart
26	chr15:76563200-76590800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:76564200-76580600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:76565200-76581200	Strong transcription	HepG2	liver
29	chr15:76565200-76581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:76566400-76579600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:76567600-76578200	Weak transcription	Brain Germinal Matrix	brain
32	chr15:76567600-76581800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:76568400-76578200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:76568600-76575000	Strong transcription	Primary T cells from cord blood	blood
35	chr15:76568800-76575800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:76568800-76576400	Strong transcription	Fetal Thymus	thymus
37	chr15:76568800-76581600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:76569000-76580600	Strong transcription	Osteobl	bone
39	chr15:76569000-76585200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:76569000-76586400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr15:76569200-76576200	Strong transcription	HSMM	muscle
42	chr15:76569200-76576600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:76569200-76577200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:76569200-76580400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:76569200-76581400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr15:76569200-76581600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr15:76569400-76574800	Strong transcription	Ovary	ovary
48	chr15:76569400-76577200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:76569400-76577800	Strong transcription	Left Ventricle	heart
50	chr15:76569400-76579800	Strong transcription	Fetal Lung	lung

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