Variant report

Variant	rs8007201
Chromosome Location	chr14:55324848-55324849
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	SPI1	chr14:55324570-55324997	GM12891	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
2	CUX1	chr14:55324590-55324940	GM12878	blood:	n/a	n/a
3	SPI1	chr14:55324500-55325189	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
4	SPI1	chr14:55324608-55325117	HL-60	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
5	EBF1	chr14:55324529-55324971	GM12878	blood:	n/a	chr14:55324764-55324775
6	ZNF384	chr14:55324649-55325010	GM12878	blood:	n/a	n/a
7	RUNX3	chr14:55324536-55324917	GM12878	blood:	n/a	n/a
8	RUNX3	chr14:55324571-55324890	GM12878	blood:	n/a	n/a
9	IKZF1	chr14:55324689-55324924	GM12878	blood:	n/a	n/a
10	EBF1	chr14:55324557-55324983	GM12878	blood:	n/a	chr14:55324764-55324775
11	SPI1	chr14:55324716-55324871	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
12	SPI1	chr14:55324637-55324973	GM12878	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
13	SPI1	chr14:55324531-55325031	GM12891	blood:	n/a	chr14:55324785-55324798 chr14:55324792-55324801 chr14:55324785-55324798
14	EBF1	chr14:55324552-55324904	GM12878	blood:	n/a	chr14:55324764-55324775
15	ATF2	chr14:55324504-55324894	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55323533..55325567-chr14:55368489..55370411,2	MCF-7	breast:

Variant related genes	Relation type
RNU6ATAC9P	TF binding region
ENSG00000131979	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10131232	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133650	1.00[YRI][hapmap]
rs10133662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133941	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483639	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11158024	0.86[YRI][hapmap]
rs11626298	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11848732	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12587434	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12589758	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs17127992	0.80[ASN][1000 genomes]
rs17128004	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2057368	0.81[ASN][1000 genomes]
rs2057369	0.81[ASN][1000 genomes]
rs2145945	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2149483	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2183081	0.85[ASW][hapmap];0.88[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs2878168	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs2878172	0.88[YRI][hapmap]
rs3783642	0.91[YRI][hapmap]
rs4411417	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4462519	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55985131	0.80[ASN][1000 genomes]
rs67468157	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141685	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144602	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7147286	0.91[YRI][hapmap]
rs7148266	0.82[ASN][1000 genomes]
rs7151058	0.84[ASN][1000 genomes]
rs7154323	0.85[ASN][1000 genomes]
rs7155309	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs7161034	0.80[ASN][1000 genomes]
rs72713456	0.80[ASN][1000 genomes]
rs72713467	0.83[ASN][1000 genomes]
rs752688	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs8023187	0.86[YRI][hapmap]
rs841	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9323272	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671371	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671455	0.95[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs9671850	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv819735	chr14:55319809-55326052	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8007201	FBXO34	cis	cerebellum	SCAN
rs8007201	ATG14	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55305400-55325800	Weak transcription	Spleen	Spleen
4	chr14:55305800-55326400	Weak transcription	Fetal Thymus	thymus
5	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr14:55306400-55336800	Weak transcription	Dnd41	blood
7	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:55306800-55327400	Weak transcription	Pancreas	Pancrea
9	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
10	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:55308200-55332400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:55308400-55330600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:55308600-55325600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr14:55308600-55325600	Weak transcription	Lung	lung
15	chr14:55309800-55325600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:55309800-55325800	Weak transcription	Thymus	Thymus
17	chr14:55311200-55325400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:55311800-55331200	Weak transcription	Hela-S3	cervix
19	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
20	chr14:55313000-55325600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:55313000-55325800	Weak transcription	Gastric	stomach
22	chr14:55321000-55329400	Weak transcription	Stomach Mucosa	stomach
23	chr14:55321000-55337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:55321200-55337000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:55321400-55325600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:55321400-55325800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:55321400-55326800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:55321400-55329400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:55321600-55325600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:55321600-55325600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:55321600-55325800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:55321800-55325600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:55322000-55325800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:55322200-55325400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr14:55322800-55331600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:55323000-55327200	Strong transcription	Liver	Liver
37	chr14:55323400-55325600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:55323400-55325800	Weak transcription	Fetal Intestine Small	intestine
39	chr14:55324000-55325000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:55324000-55325000	Enhancers	Adipose Nuclei	Adipose
41	chr14:55324000-55325600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:55324000-55325800	Enhancers	Primary B cells from cord blood	blood
43	chr14:55324000-55325800	Enhancers	Primary B cells from peripheral blood	blood
44	chr14:55324200-55325000	Enhancers	Small Intestine	intestine
45	chr14:55324200-55325200	Enhancers	Fetal Stomach	stomach
46	chr14:55324200-55326000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:55324200-55326200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:55324200-55327200	Strong transcription	Primary T cells from cord blood	blood
49	chr14:55324200-55331400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr14:55324400-55325200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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