Variant report

Variant	rs8008451
Chromosome Location	chr14:104100560-104100561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104096516..104099228-chr14:104099460..104101440,3	K562	blood:
2	chr14:104098500..104101040-chr14:104158775..104161551,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269940	Chromatin interaction
ENSG00000269910	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10047805	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10131067	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1054080	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1078756	0.82[ASN][1000 genomes]
rs11160754	0.84[ASN][1000 genomes]
rs11160756	1.00[CEU][hapmap];0.80[CHB][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625397	0.87[JPT][hapmap];0.87[MEX][hapmap]
rs11626589	0.83[ASN][1000 genomes]
rs11848721	0.81[ASN][1000 genomes]
rs11850979	1.00[ASW][hapmap];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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434218	0.81[JPT][hapmap]
rs12435399	0.82[ASN][1000 genomes]
rs12881418	0.83[JPT][hapmap]
rs12897511	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2296483	0.87[JPT][hapmap];0.91[MEX][hapmap]
rs2403202	0.82[CEU][hapmap]
rs2403203	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28798508	0.82[ASN][1000 genomes]
rs28823639	0.82[ASN][1000 genomes]
rs2896488	0.80[ASN][1000 genomes]
rs2896489	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3212136	0.83[JPT][hapmap]
rs35015260	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35686878	0.86[ASN][1000 genomes]
rs3742463	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3742465	1.00[ASW][hapmap];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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759586	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4318144	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4374097	0.82[ASN][1000 genomes]
rs4383078	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4444269	0.82[ASN][1000 genomes]
rs4561394	0.92[ASN][1000 genomes]
rs4900583	0.88[ASN][1000 genomes]
rs4900584	0.88[ASN][1000 genomes]
rs4900586	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4900587	0.83[JPT][hapmap]
rs4900589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906340	0.83[ASN][1000 genomes]
rs4906341	0.81[ASN][1000 genomes]
rs4906342	0.84[ASN][1000 genomes]
rs4906348	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4906349	0.88[ASN][1000 genomes]
rs4906352	0.83[ASN][1000 genomes]
rs4906355	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4906358	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58601596	0.81[ASN][1000 genomes]
rs61436277	0.89[ASN][1000 genomes]
rs61995761	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs709399	0.83[EUR][1000 genomes]
rs7145234	0.82[ASN][1000 genomes]
rs7154572	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7155511	0.89[ASN][1000 genomes]
rs7156832	0.91[ASN][1000 genomes]
rs7157116	0.81[ASN][1000 genomes]
rs7161125	0.82[ASN][1000 genomes]
rs729437	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs745079	0.91[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs752624	0.87[JPT][hapmap];0.87[MEX][hapmap]
rs8003289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8007489	0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.82[ASN][1000 genomes]
rs8007903	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap]
rs8007915	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8018214	0.91[ASN][1000 genomes]
rs8021368	0.91[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.81[ASN][1000 genomes]
rs8021904	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs861530	0.95[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs861537	0.91[CEU][hapmap];0.82[CHB][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs861544	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs861545	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs861547	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8008451	CAMK2G	trans	parietal	SCAN
rs8008451	KLC1	cis	parietal	SCAN
rs8008451	XRCC3	cis	lymphoblastoid	seeQTL
rs8008451	ZFYVE21	cis	lymphoblastoid	seeQTL
rs8008451	ZFYVE21	cis	multi-tissue	Pritchard
rs8008451	ZFYVE21	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104096600-104100800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr14:104096600-104118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:104097000-104100600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:104097400-104100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:104097400-104100600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:104097400-104100600	Weak transcription	Brain Germinal Matrix	brain
7	chr14:104097400-104100600	Weak transcription	Fetal Kidney	kidney
8	chr14:104097400-104100600	Weak transcription	Ovary	ovary
9	chr14:104097400-104100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:104097400-104100600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:104097400-104100600	Weak transcription	NHEK	skin
12	chr14:104097400-104100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:104097400-104100800	Weak transcription	Fetal Heart	heart
14	chr14:104097400-104101000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:104097400-104101000	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:104097400-104101000	Genic enhancers	Dnd41	blood
17	chr14:104097400-104101400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:104097400-104101800	Weak transcription	Primary B cells from cord blood	blood
19	chr14:104097400-104102200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:104097400-104103600	Weak transcription	Liver	Liver
21	chr14:104097400-104104000	Weak transcription	HepG2	liver
22	chr14:104097400-104104200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:104097400-104104200	Weak transcription	Aorta	Aorta
24	chr14:104097400-104104200	Weak transcription	Brain Anterior Caudate	brain
25	chr14:104097400-104104200	Weak transcription	Stomach Mucosa	stomach
26	chr14:104097400-104104200	Weak transcription	Thymus	Thymus
27	chr14:104097400-104104200	Weak transcription	NH-A	brain
28	chr14:104097400-104105000	Weak transcription	Fetal Lung	lung
29	chr14:104097400-104107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:104097400-104107800	Strong transcription	Fetal Stomach	stomach
31	chr14:104097400-104117800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr14:104097400-104119400	Weak transcription	HSMMtube	muscle
33	chr14:104097400-104120000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:104097400-104120000	Weak transcription	HUVEC	blood vessel
35	chr14:104097400-104120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:104097400-104120200	Weak transcription	Colonic Mucosa	Colon
37	chr14:104097400-104120200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:104097400-104120400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:104097400-104120400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr14:104097400-104120800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:104097600-104101600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:104097600-104102200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:104097600-104106200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:104098000-104100800	Enhancers	Brain Angular Gyrus	brain
46	chr14:104098000-104102600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:104098200-104100800	Weak transcription	Small Intestine	intestine
48	chr14:104098200-104101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:104098200-104101400	Strong transcription	Fetal Thymus	thymus
50	chr14:104098200-104103000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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