Variant report

Variant	rs17526503
Chromosome Location	chr8:103401154-103401155
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	chr8:103400468-103401522	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103400271..103401857-chr8:103422976..103425727,2	MCF-7	breast:
2	chr8:103401111..103403412-chr8:103418397..103420245,2	K562	blood:

Variant related genes	Relation type
ENSG00000238533	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1265116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1265118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs1265154	1.00[CHB][hapmap]
rs17435369	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap]
rs2015704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2045412	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2168690	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2445947	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2512410	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607661	0.82[CEU][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2853230	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2853235	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2925781	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2978431	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3018505	0.83[EUR][1000 genomes]
rs3018508	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58217487	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61149171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523108	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523128	0.86[AFR][1000 genomes]
rs62523144	0.86[AFR][1000 genomes]
rs6988618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840833	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9773443	1.00[CHB][hapmap];0.82[GIH][hapmap]

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	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
9	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	esv2761454	chr8:103394602-103414235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17526503	RRM2B	cis	cerebellum	SCAN
rs17526503	KLF10	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103369800-103421000	Weak transcription	Colonic Mucosa	Colon
2	chr8:103372400-103412600	Weak transcription	Fetal Intestine Large	intestine
3	chr8:103372800-103403800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:103372800-103410200	Weak transcription	Fetal Kidney	kidney
5	chr8:103373000-103402400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:103373200-103401400	Weak transcription	Hela-S3	cervix
7	chr8:103384200-103411600	Weak transcription	Lung	lung
8	chr8:103384200-103416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:103387000-103402800	Weak transcription	Dnd41	blood
10	chr8:103388200-103407200	Weak transcription	Right Ventricle	heart
11	chr8:103388400-103406400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:103388400-103416600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:103394600-103407200	Weak transcription	Pancreas	Pancrea
14	chr8:103394800-103403800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:103395000-103406800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:103395200-103406800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:103395200-103406800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:103395400-103402800	Weak transcription	Thymus	Thymus
19	chr8:103395600-103406800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:103395600-103407200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:103395800-103401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:103395800-103402600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:103395800-103402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:103395800-103402800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:103395800-103402800	Weak transcription	Placenta	Placenta
26	chr8:103395800-103406800	Weak transcription	Aorta	Aorta
27	chr8:103395800-103420800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:103395800-103422200	Weak transcription	HSMMtube	muscle
29	chr8:103396000-103401200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:103396000-103405800	Weak transcription	Right Atrium	heart
31	chr8:103396000-103410200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:103396200-103402400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:103396200-103402800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:103396200-103402800	Weak transcription	Fetal Lung	lung
35	chr8:103396200-103402800	Weak transcription	Fetal Thymus	thymus
36	chr8:103396200-103403600	Weak transcription	NH-A	brain
37	chr8:103396200-103404200	Weak transcription	Fetal Heart	heart
38	chr8:103396200-103407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:103396200-103407400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:103396200-103408200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:103396200-103409600	Weak transcription	Fetal Stomach	stomach
42	chr8:103396800-103403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:103396800-103407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:103397000-103402400	Weak transcription	Primary T cells from cord blood	blood
45	chr8:103397000-103402400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:103397000-103402800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:103397000-103402800	Weak transcription	NHEK	skin
48	chr8:103397000-103413600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:103397200-103402800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr8:103397200-103406800	Weak transcription	Brain Cingulate Gyrus	brain

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