Variant report

Variant	rs7009514
Chromosome Location	chr8:11670105-11670106
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11663591..11666285-chr8:11668539..11672798,5	K562	blood:
2	chr8:11659663..11662114-chr8:11670043..11672183,2	K562	blood:
3	chr8:11663266..11668513-chr8:11668832..11673585,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089520	0.82[CEU][hapmap]
rs10098874	0.94[CEU][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1047643	0.94[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs1138666	0.83[EUR][1000 genomes]
rs12056593	1.00[CHB][hapmap]
rs12543666	0.85[EUR][1000 genomes]
rs2409834	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3088244	0.91[CEU][hapmap]
rs34809309	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4442098	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55756391	0.88[EUR][1000 genomes]
rs57720356	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57725348	0.80[EUR][1000 genomes]
rs6984049	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6991234	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6993946	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7008523	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7009163	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011491	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73547720	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73549728	0.85[EUR][1000 genomes]
rs73549729	0.85[EUR][1000 genomes]
rs7818952	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7843716	0.88[EUR][1000 genomes]
rs9644689	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7009514	PCDHGB4	trans	multi-tissue	Pritchard
rs7009514	ANTXR1	trans	multi-tissue	Pritchard
rs7009514	FLJ10661	cis	cerebellum	SCAN
rs7009514	C9orf53	trans	parietal	SCAN
rs7009514	DEFB134	cis	cerebellum	SCAN
rs7009514	KCNJ8	trans	multi-tissue	Pritchard
rs7009514	KLP1	trans	multi-tissue	Pritchard
rs7009514	CTSB	cis	multi-tissue	Pritchard
rs7009514	PRSS55	cis	cerebellum	SCAN
rs7009514	NEIL2	cis	lymphoblastoid	seeQTL
rs7009514	C8orf48	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11666400-11670400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:11666400-11671400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:11666600-11670400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:11666600-11671200	Weak transcription	Small Intestine	intestine
5	chr8:11666800-11670800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:11666800-11670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:11666800-11673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:11666800-11673600	Strong transcription	Fetal Thymus	thymus
9	chr8:11667000-11670200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:11667000-11670800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:11667000-11670800	Strong transcription	GM12878-XiMat	blood
12	chr8:11667000-11671200	Strong transcription	Hela-S3	cervix
13	chr8:11667000-11671600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:11667000-11672000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:11667000-11672000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:11667000-11672000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:11667000-11672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:11667000-11672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:11667000-11672200	Strong transcription	A549	lung
20	chr8:11667000-11672200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:11667000-11672400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:11667000-11673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr8:11667200-11670400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:11667200-11670600	Genic enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:11667200-11671200	Strong transcription	Placenta	Placenta
27	chr8:11667200-11671400	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr8:11667200-11671600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:11667200-11671600	Strong transcription	Thymus	Thymus
30	chr8:11667200-11671600	Strong transcription	HSMM	muscle
31	chr8:11667200-11671800	Strong transcription	Primary B cells from cord blood	blood
32	chr8:11667200-11672200	Strong transcription	Primary hematopoietic stem cells	blood
33	chr8:11667200-11673000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:11667200-11673400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11667200-11683800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:11667400-11670600	Strong transcription	Fetal Intestine Large	intestine
37	chr8:11667400-11671200	Strong transcription	Spleen	Spleen
38	chr8:11667400-11671600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:11667400-11671600	Strong transcription	HSMMtube	muscle
40	chr8:11667400-11671800	Strong transcription	Brain Germinal Matrix	brain
41	chr8:11667400-11672000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:11667400-11672000	Strong transcription	HUVEC	blood vessel
43	chr8:11667400-11672000	Strong transcription	Osteobl	bone
44	chr8:11667400-11672400	Strong transcription	NHDF-Ad	bronchial
45	chr8:11667400-11672400	Strong transcription	NHLF	lung
46	chr8:11667400-11672800	Strong transcription	Fetal Muscle Leg	muscle
47	chr8:11667400-11679200	Weak transcription	Fetal Brain Male	brain
48	chr8:11667600-11671200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:11667600-11671600	Strong transcription	Fetal Brain Female	brain
50	chr8:11667600-11672000	Strong transcription	Primary T cells from cord blood	blood

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