Variant report

Variant	rs11774420
Chromosome Location	chr8:103249266-103249267
allele	C/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	CHD1	chr8:103248792-103252333	IMR90	lung:	n/a	chr8:103251203-103251213
2	STAT3	chr8:103248816-103249901	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
3	STAT3	chr8:103248790-103249907	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
4	FOS	chr8:103248863-103249381	MCF10A-Er-Src	breast:	n/a	chr8:103249308-103249317 chr8:103249032-103249044
5	MYC	chr8:103248904-103249311	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr8:103248892-103249455	MCF10A-Er-Src	breast:	n/a	chr8:103249308-103249317 chr8:103249032-103249044
7	POLR2A	chr8:103248925-103249285	GM12891	blood:	n/a	n/a
8	POLR2A	chr8:103248763-103252162	MCF10A-Er-Src	breast:	n/a	n/a
9	RUNX3	chr8:103248820-103249267	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:103248635-103249587	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:103248979-103252107	IMR90	lung:	n/a	n/a
12	POLR2A	chr8:103248965-103249607	GM12891	blood:	n/a	n/a
13	POLR2A	chr8:103248872-103249420	GM12891	blood:	n/a	n/a
14	EBF1	chr8:103248927-103249299	GM12878	blood:	n/a	n/a
15	SPI1	chr8:103248995-103249340	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:103248497-103249913	GM12878	blood:	n/a	n/a
17	E2F4	chr8:103249142-103249466	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr8:103248842-103249488	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
19	CHD1	chr8:103248610-103251204	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:103248725-103251275	GM12891	blood:	n/a	n/a
21	POLR2A	chr8:103248842-103251256	GM12878	blood:	n/a	n/a
22	EBF1	chr8:103248910-103249310	GM12878	blood:	n/a	n/a
23	WRNIP1	chr8:103249017-103249367	GM12878	blood:	n/a	n/a
24	STAT3	chr8:103248875-103250310	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119
25	MXI1	chr8:103248954-103249451	GM12878	blood:	n/a	n/a
26	EBF1	chr8:103248909-103249328	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:103248887-103252665	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr8:103248824-103249384	MCF10A-Er-Src	breast:	n/a	chr8:103249308-103249317 chr8:103249032-103249044
29	MYC	chr8:103248895-103249297	MCF10A-Er-Src	breast:	n/a	n/a
30	SPI1	chr8:103248968-103249389	HL-60	blood:	n/a	n/a
31	SPI1	chr8:103248856-103249488	HL-60	blood:	n/a	n/a
32	IKZF1	chr8:103248931-103249330	GM12878	blood:	n/a	n/a
33	STAT3	chr8:103248643-103249469	MCF10A-Er-Src	breast:	n/a	chr8:103249108-103249119

No.	Distal block	Cell Line	Cell type
1	chr8:102505170..102507558-chr8:103249030..103250734,2	MCF-7	breast:
2	chr8:103248705..103250283-chr8:103601762..103604480,2	K562	blood:
3	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246263	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1037699	0.82[EUR][1000 genomes]
rs1037700	0.84[EUR][1000 genomes]
rs10505019	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052069	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1052071	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11774459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776865	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11777942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778107	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783467	0.93[ASN][1000 genomes]
rs11784180	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784534	0.81[ASN][1000 genomes]
rs11785514	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11786397	0.81[ASN][1000 genomes]
rs16869269	0.81[ASN][1000 genomes]
rs16869276	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869282	0.93[ASN][1000 genomes]
rs16869295	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918482	0.81[ASN][1000 genomes]
rs2387995	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928571	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928592	0.93[ASN][1000 genomes]
rs28928597	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999671	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28999676	0.93[ASN][1000 genomes]
rs28999706	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000274	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000286	0.81[ASN][1000 genomes]
rs29000294	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35693157	0.88[EUR][1000 genomes]
rs3735720	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735721	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735722	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3907099	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4329248	0.81[ASN][1000 genomes]
rs5005121	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57901015	0.81[ASN][1000 genomes]
rs60604862	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7836046	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841131	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11774420	RRM2B	cis	Muscle Skeletal	GTEx
rs11774420	RRM2B	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103231600-103249800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103234600-103250000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103241000-103250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:103241000-103250400	Weak transcription	Esophagus	oesophagus
5	chr8:103241400-103249600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:103241400-103250600	Weak transcription	Spleen	Spleen
7	chr8:103242000-103249400	Weak transcription	Fetal Stomach	stomach
8	chr8:103243400-103249800	Weak transcription	Fetal Kidney	kidney
9	chr8:103243600-103250200	Weak transcription	Placenta	Placenta
10	chr8:103243800-103249800	Weak transcription	Brain Germinal Matrix	brain
11	chr8:103244000-103249800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:103244400-103250400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:103248000-103249400	Enhancers	Colon Smooth Muscle	Colon
14	chr8:103248000-103249600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:103248000-103250000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr8:103248000-103250200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103248000-103250800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:103248200-103249400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:103248200-103249400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103248200-103249400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:103248200-103249600	Enhancers	HepG2	liver
22	chr8:103248200-103250000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:103248200-103250000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:103248200-103250000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:103248200-103250000	Enhancers	Adipose Nuclei	Adipose
26	chr8:103248200-103250000	Enhancers	Brain Angular Gyrus	brain
27	chr8:103248400-103249400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:103248400-103249400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:103248400-103249400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:103248400-103249600	Enhancers	Primary T cells from cord blood	blood
31	chr8:103248400-103249600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:103248400-103249600	Weak transcription	Stomach Mucosa	stomach
33	chr8:103248400-103249600	Enhancers	K562	blood
34	chr8:103248400-103249800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:103248400-103249800	Enhancers	Small Intestine	intestine
36	chr8:103248400-103250000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:103248400-103250200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:103248400-103250200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:103248400-103250600	Flanking Active TSS	Osteobl	bone
40	chr8:103248600-103249400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr8:103248600-103249400	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr8:103248600-103249400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:103248600-103249400	Enhancers	Rectal Smooth Muscle	rectum
44	chr8:103248600-103249400	Enhancers	Dnd41	blood
45	chr8:103248600-103249600	Enhancers	Ovary	ovary
46	chr8:103248600-103249600	Flanking Active TSS	GM12878-XiMat	blood
47	chr8:103248600-103249800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:103248600-103249800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:103248600-103249800	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:103248600-103249800	Enhancers	Fetal Heart	heart

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