Variant report

Variant	rs8191510
Chromosome Location	chr8:11626312-11626313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11625695-11626321	GM12892	blood:	n/a	n/a
2	TCF3	chr8:11626063-11626312	GM12878	blood:	n/a	chr8:11626211-11626226 chr8:11626211-11626225 chr8:11626214-11626223
3	ELF1	chr8:11625912-11626326	GM12878	blood:	n/a	n/a
4	RUNX3	chr8:11625576-11626330	GM12878	blood:	n/a	n/a
5	RELA	chr8:11626035-11626364	GM18505	blood:	n/a	n/a
6	NFIC	chr8:11625925-11626759	GM12878	blood:	n/a	n/a
7	TCF3	chr8:11626017-11626315	GM12878	blood:	n/a	chr8:11626211-11626226 chr8:11626211-11626225 chr8:11626214-11626223
8	MTA3	chr8:11625896-11626335	GM12878	blood:	n/a	n/a
9	FOXM1	chr8:11625862-11626498	GM12878	blood:	n/a	n/a
10	RELA	chr8:11625966-11626635	GM18951	blood:	n/a	n/a
11	RELA	chr8:11626017-11626598	GM12878	blood:	n/a	n/a
12	EBF1	chr8:11625965-11626355	GM12878	blood:	n/a	chr8:11626156-11626169 chr8:11626157-11626167 chr8:11626158-11626167 chr8:11626156-11626167 chr8:11626158-11626167
13	RELA	chr8:11625982-11626529	GM19193	blood:	n/a	n/a
14	ATF2	chr8:11625945-11626417	GM12878	blood:	n/a	n/a
15	RELA	chr8:11625731-11626406	GM19099	blood:	n/a	n/a
16	STAT5A	chr8:11626021-11626352	GM12878	blood:	n/a	chr8:11626252-11626261 chr8:11626251-11626260
17	MTA3	chr8:11625989-11626364	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:11625781-11627973	GM19099	blood:	n/a	n/a
19	RELA	chr8:11625716-11626400	GM15510	blood:	n/a	n/a
20	RUNX3	chr8:11625568-11626334	GM12878	blood:	n/a	n/a
21	RELA	chr8:11625714-11626598	GM12891	blood:	n/a	n/a
22	RELA	chr8:11625976-11626401	GM10847	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
3	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
4	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
5	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
6	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
7	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

Variant related genes	Relation type
NEIL2	TF binding region
ENSG00000164733	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000227203	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10106250	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[EUR][1000 genomes]
rs28505660	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs60419043	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73545784	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191543	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191573	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191589	0.82[YRI][hapmap]
rs8191664	1.00[TSI][hapmap]
rs8191669	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8191682	0.90[LWK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191510	MEST	trans	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
2	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:11619600-11626800	Weak transcription	Gastric	stomach
7	chr8:11620400-11626600	Weak transcription	Right Ventricle	heart
8	chr8:11621200-11626600	Weak transcription	Fetal Intestine Small	intestine
9	chr8:11622400-11626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:11623400-11626400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:11623400-11626600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:11623400-11626600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:11623400-11626600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:11623400-11626600	Weak transcription	Brain Substantia Nigra	brain
15	chr8:11623400-11626600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:11623400-11626600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:11623400-11626800	Weak transcription	Spleen	Spleen
18	chr8:11623600-11626400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:11623600-11626400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:11623600-11626400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:11623600-11626400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:11623600-11626400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:11623600-11626400	Weak transcription	Liver	Liver
24	chr8:11623600-11626400	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:11623600-11626400	Weak transcription	Stomach Mucosa	stomach
26	chr8:11623600-11626600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:11623600-11626600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:11623600-11626600	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:11623600-11626600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:11623600-11626600	Weak transcription	Fetal Brain Male	brain
31	chr8:11623600-11626600	Weak transcription	A549	lung
32	chr8:11623600-11626800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:11623600-11626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:11623600-11626800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:11623600-11626800	Weak transcription	Brain Angular Gyrus	brain
36	chr8:11623600-11626800	Weak transcription	Ovary	ovary
37	chr8:11623600-11626800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:11623800-11626400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:11623800-11626400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:11623800-11626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:11623800-11626400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:11623800-11626400	Weak transcription	Hela-S3	cervix
43	chr8:11623800-11626400	Weak transcription	HepG2	liver
44	chr8:11623800-11626400	Weak transcription	HSMM	muscle
45	chr8:11623800-11626400	Weak transcription	HSMMtube	muscle
46	chr8:11623800-11626400	Weak transcription	NHEK	skin
47	chr8:11623800-11626600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:11623800-11626600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:11623800-11626600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:11623800-11626600	Weak transcription	NH-A	brain

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