Variant report

Variant	rs9931380
Chromosome Location	chr16:70833949-70833950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70832610..70835420-chr16:70895193..70897574,2	MCF-7	breast:
2	chr16:70816811..70818321-chr16:70832998..70834793,2	K562	blood:
3	chr16:70811715..70814329-chr16:70831689..70834384,2	MCF-7	breast:
4	chr16:70820021..70824247-chr16:70832528..70836441,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157423	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1009285	0.85[ASN][1000 genomes]
rs11863319	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864614	0.91[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs11866379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12920588	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12924064	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12926985	0.98[ASN][1000 genomes]
rs12928270	0.96[ASN][1000 genomes]
rs12929374	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12934723	0.98[ASN][1000 genomes]
rs12935645	0.98[ASN][1000 genomes]
rs13335758	0.96[ASN][1000 genomes]
rs1551528	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1551529	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16970484	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs16970513	0.81[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs17248914	0.81[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs2290614	0.81[CEU][hapmap]
rs28676580	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34268521	0.89[ASN][1000 genomes]
rs35144432	0.93[ASN][1000 genomes]
rs35426120	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35665975	0.85[ASN][1000 genomes]
rs3760118	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs3855651	0.89[ASN][1000 genomes]
rs4985364	0.87[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985423	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs4985425	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs52826576	0.85[ASN][1000 genomes]
rs60190856	0.93[ASN][1000 genomes]
rs6499335	0.81[CEU][hapmap]
rs6499336	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs713511	0.96[ASN][1000 genomes]
rs71384769	0.96[ASN][1000 genomes]
rs71401831	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7185921	0.81[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs7188712	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7194091	0.81[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap]
rs7202363	0.93[ASW][hapmap];0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7203578	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs8044133	0.98[ASN][1000 genomes]
rs8052615	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8060947	0.87[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv916160	chr16:70809280-71120138	ZNF genes & repeats Strong transcription 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	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9931380	FUK	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70805200-70834000	Weak transcription	Fetal Heart	heart
2	chr16:70820200-70834000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:70820400-70834000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:70820400-70834000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:70820400-70834200	Weak transcription	Colonic Mucosa	Colon
6	chr16:70820400-70834200	Weak transcription	Left Ventricle	heart
7	chr16:70820400-70834200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:70820400-70834400	Weak transcription	Aorta	Aorta
9	chr16:70820800-70834200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr16:70821200-70834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:70822400-70834200	Weak transcription	Placenta	Placenta
12	chr16:70823400-70834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:70823800-70834000	Weak transcription	Osteobl	bone
14	chr16:70824000-70834000	Weak transcription	Ovary	ovary
15	chr16:70824000-70834200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:70824200-70834200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:70824800-70834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:70825400-70834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr16:70825800-70834200	Weak transcription	Gastric	stomach
20	chr16:70826000-70834000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:70829800-70834200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:70830000-70834000	Weak transcription	Fetal Thymus	thymus
23	chr16:70832400-70834200	Weak transcription	Lung	lung
24	chr16:70832600-70834000	Enhancers	Brain Anterior Caudate	brain
25	chr16:70832600-70834200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr16:70832600-70834200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr16:70832600-70834400	Enhancers	Small Intestine	intestine
28	chr16:70832800-70834000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr16:70832800-70834000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:70832800-70834200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:70832800-70834200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr16:70832800-70834200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr16:70832800-70834200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr16:70833000-70834000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:70833000-70834000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr16:70833000-70834000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:70833000-70834200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr16:70833000-70834200	Enhancers	Primary B cells from peripheral blood	blood
39	chr16:70833000-70834200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr16:70833000-70834200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr16:70833000-70834200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr16:70833000-70834200	Enhancers	Fetal Lung	lung
43	chr16:70833000-70834200	Enhancers	Thymus	Thymus
44	chr16:70833200-70834000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr16:70833200-70834000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:70833200-70834000	Enhancers	Primary B cells from cord blood	blood
47	chr16:70833200-70834000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr16:70833200-70834000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:70833200-70834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:70833200-70834000	Enhancers	Liver	Liver

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