Variant report

Variant	rs164351
Chromosome Location	chr5:14170382-14170383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14170146..14172606-chr5:14175990..14178962,3	MCF-7	breast:
2	chr5:14142896..14145532-chr5:14165451..14171947,7	MCF-7	breast:
3	chr5:14162893..14167437-chr5:14167557..14171144,6	MCF-7	breast:
4	chr5:14170364..14173641-chr5:14174629..14176326,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12652543	0.81[ASN][1000 genomes]
rs151899	0.81[JPT][hapmap]
rs152782	0.86[JPT][hapmap]
rs164109	0.90[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap]
rs164521	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16903264	0.80[JPT][hapmap]
rs26284	0.86[JPT][hapmap]
rs26285	0.86[JPT][hapmap]
rs26286	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs27482	0.90[JPT][hapmap]
rs28014	0.90[JPT][hapmap]
rs32571	0.90[JPT][hapmap]
rs32572	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs32573	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs32594	0.86[JPT][hapmap]
rs33024	0.81[AMR][1000 genomes]
rs352657	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2830407	chr5:13793627-14172298	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv1027816	chr5:13847043-14172158	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv537673	chr5:13847043-14172158	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
18	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
19	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
20	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs164351	FBXL7	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14157400-14171800	Weak transcription	Fetal Kidney	kidney
2	chr5:14157800-14173000	Weak transcription	Colonic Mucosa	Colon
3	chr5:14164600-14171800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
5	chr5:14165000-14171400	Weak transcription	Fetal Brain Female	brain
6	chr5:14165000-14174600	Genic enhancers	HSMM	muscle
7	chr5:14165200-14170400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:14165200-14175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:14165400-14171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:14165400-14174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:14165600-14175000	Enhancers	NHDF-Ad	bronchial
12	chr5:14165800-14171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:14165800-14171200	Enhancers	Osteobl	bone
14	chr5:14165800-14175200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:14166000-14171800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:14166000-14174000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:14166000-14174000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:14166000-14176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:14166200-14171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:14166200-14173600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:14166400-14170400	Enhancers	Liver	Liver
22	chr5:14166400-14173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:14166400-14173800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:14166400-14177600	Weak transcription	Hela-S3	cervix
25	chr5:14166800-14171400	Enhancers	NHLF	lung
26	chr5:14167000-14174200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:14167200-14170600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:14167200-14171600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:14167200-14173400	Weak transcription	Gastric	stomach
30	chr5:14167200-14174200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:14167200-14176000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:14167400-14173600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:14167400-14173800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:14167600-14174000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:14167800-14171000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:14168000-14171400	Enhancers	A549	lung
37	chr5:14168000-14171800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:14168000-14172200	Weak transcription	Brain Angular Gyrus	brain
39	chr5:14168000-14172400	Weak transcription	Ovary	ovary
40	chr5:14168000-14172400	Weak transcription	Spleen	Spleen
41	chr5:14168400-14170400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:14168400-14175200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:14168600-14170800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:14168600-14171400	Weak transcription	Fetal Lung	lung
45	chr5:14168600-14173800	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:14168800-14171400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:14168800-14172000	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:14168800-14172400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:14168800-14172600	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:14169000-14171000	Enhancers	Muscle Satellite Cultured Cells	--

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