Variant report

Variant	rs8017210
Chromosome Location	chr14:55361836-55361837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55360231..55364033-chr14:55366282..55369580,4	K562	blood:
2	chr14:55354060..55356270-chr14:55359922..55362227,2	K562	blood:
3	chr14:55359081..55363562-chr14:55365386..55370539,12	MCF-7	breast:
4	chr14:55361522..55363244-chr14:55517974..55519538,2	MCF-7	breast:
5	chr14:55348331..55350043-chr14:55361093..55363707,2	K562	blood:
6	chr14:55359687..55364414-chr14:55366282..55370012,8	K562	blood:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10140164	0.92[CHB][hapmap]
rs10143038	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10149103	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1107960	0.92[CHB][hapmap]
rs1107961	0.82[EUR][1000 genomes]
rs11158028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11621165	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11621177	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11626210	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626396	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11627963	0.84[EUR][1000 genomes]
rs11629355	0.85[EUR][1000 genomes]
rs11847771	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11852045	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12587434	0.83[CEU][hapmap]
rs17128052	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17253633	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs2878172	0.92[CHB][hapmap]
rs34544088	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759662	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759663	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759664	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3783639	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3783641	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45459500	0.84[EUR][1000 genomes]
rs55726650	0.85[EUR][1000 genomes]
rs55751189	0.84[EUR][1000 genomes]
rs56013432	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56188649	0.84[EUR][1000 genomes]
rs56213135	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57095876	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57622454	0.84[EUR][1000 genomes]
rs58293795	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59074935	0.84[EUR][1000 genomes]
rs60258834	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61709472	0.84[EUR][1000 genomes]
rs67620272	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147201	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713477	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72713482	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72715547	0.84[EUR][1000 genomes]
rs72715552	0.86[EUR][1000 genomes]
rs72715575	0.84[EUR][1000 genomes]
rs8006363	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8007267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008858	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010570	0.83[EUR][1000 genomes]
rs8011358	0.84[EUR][1000 genomes]
rs8018688	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8019390	0.92[CHB][hapmap]
rs8020545	0.92[CHB][hapmap]
rs8020798	0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022453	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023187	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs943913	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8017210	FBXO34	cis	cerebellum	SCAN
rs8017210	LGALS3	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:55348400-55368200	Weak transcription	Gastric	stomach
3	chr14:55349000-55366400	Weak transcription	Hela-S3	cervix
4	chr14:55349200-55367400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:55349200-55367400	Weak transcription	Thymus	Thymus
6	chr14:55349400-55367800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55349600-55367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:55349600-55368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:55350000-55366400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:55353600-55365800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr14:55354000-55367200	Weak transcription	Primary T cells from cord blood	blood
12	chr14:55355200-55362000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:55356000-55362000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:55356000-55362000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:55356000-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55356000-55362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:55356000-55368000	Weak transcription	Spleen	Spleen
18	chr14:55356400-55362200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr14:55356400-55362400	Weak transcription	Lung	lung
20	chr14:55356400-55365600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:55356400-55368000	Weak transcription	Small Intestine	intestine
22	chr14:55356600-55367800	Weak transcription	K562	blood
23	chr14:55356800-55364200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:55356800-55365400	Weak transcription	Fetal Intestine Small	intestine
25	chr14:55357600-55362200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:55358200-55367400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:55358600-55367200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:55359000-55362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:55359000-55364200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:55359000-55366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:55359000-55367400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:55359400-55367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:55359600-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:55360200-55363200	Enhancers	Liver	Liver
35	chr14:55360400-55362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:55360400-55362400	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:55360400-55367200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:55360600-55362000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:55360600-55362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:55360600-55362200	Weak transcription	GM12878-XiMat	blood
41	chr14:55360800-55364400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:55360800-55367400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:55360800-55367800	Weak transcription	HMEC	breast
44	chr14:55361200-55362800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:55361400-55362000	Weak transcription	HepG2	liver
46	chr14:55361400-55363000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:55361600-55362800	Enhancers	HUVEC	blood vessel
48	chr14:55361800-55362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:55361800-55362400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:55361800-55362600	Enhancers	NHEK	skin

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