Variant report

Variant	rs2009291
Chromosome Location	chr14:55838230-55838231
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55834865..55836765-chr14:55837611..55840603,2	MCF-7	breast:
2	chr14:55838023..55840863-chr14:55842688..55845162,2	K562	blood:
3	chr14:55828992..55831981-chr14:55837033..55839790,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10131913	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10131926	0.86[AFR][1000 genomes]
rs10134339	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs10136596	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10137307	0.92[CEU][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes]
rs10138446	0.89[ASW][hapmap];0.86[MEX][hapmap]
rs10139000	0.95[EUR][1000 genomes]
rs10139083	0.81[EUR][1000 genomes]
rs10140801	0.85[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs10140869	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs10141483	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10141552	0.92[CEU][hapmap];0.90[TSI][hapmap]
rs10142448	1.00[CEU][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10142547	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10142823	0.80[EUR][1000 genomes]
rs10144345	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144418	0.89[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs10145203	0.83[EUR][1000 genomes]
rs10147765	0.96[EUR][1000 genomes]
rs10149420	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150699	0.80[EUR][1000 genomes]
rs10150760	1.00[CEU][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs1045002	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1045004	0.80[JPT][hapmap]
rs10467798	0.92[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs1109170	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11621265	0.80[JPT][hapmap]
rs11625001	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs11625423	0.84[EUR][1000 genomes]
rs11625968	0.95[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11626751	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11628437	0.96[CEU][hapmap]
rs11851169	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs13379169	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1538257	0.89[ASW][hapmap];0.86[MEX][hapmap]
rs1572611	0.89[CEU][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17128440	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17674463	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs17674563	0.93[EUR][1000 genomes]
rs17740741	0.89[CEU][hapmap]
rs17741542	0.96[CEU][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs17741831	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs1815580	0.92[EUR][1000 genomes]
rs1815581	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1952087	0.88[AFR][1000 genomes]
rs2016931	0.95[EUR][1000 genomes]
rs2182797	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2209808	0.92[EUR][1000 genomes]
rs2341621	0.92[CEU][hapmap];0.80[CHB][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2341622	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28428911	0.95[EUR][1000 genomes]
rs28430823	0.95[EUR][1000 genomes]
rs28493647	0.96[EUR][1000 genomes]
rs28568813	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28612464	0.95[EUR][1000 genomes]
rs28631821	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28660594	0.95[EUR][1000 genomes]
rs28716725	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742569	1.00[CEU][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs3783648	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783650	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3783651	0.84[JPT][hapmap]
rs3783652	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs3825616	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4366639	0.84[EUR][1000 genomes]
rs4496026	0.84[EUR][1000 genomes]
rs4597235	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56270323	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56949365	0.84[EUR][1000 genomes]
rs58260073	0.80[EUR][1000 genomes]
rs59629906	0.81[EUR][1000 genomes]
rs59871474	0.81[EUR][1000 genomes]
rs61210954	0.84[EUR][1000 genomes]
rs6573009	0.87[ASW][hapmap];0.96[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes]
rs6573010	0.88[AFR][1000 genomes]
rs6573013	1.00[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs6573014	1.00[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6573017	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573020	0.92[CEU][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66486619	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66696758	0.80[EUR][1000 genomes]
rs7142857	0.83[AFR][1000 genomes]
rs7144737	1.00[CEU][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs7145727	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7146748	0.82[EUR][1000 genomes]
rs7146752	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7147136	0.93[EUR][1000 genomes]
rs7148171	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7153110	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153612	0.83[EUR][1000 genomes]
rs7153645	0.80[EUR][1000 genomes]
rs7154889	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7158768	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7159144	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006525	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008119	0.96[EUR][1000 genomes]
rs8013713	0.96[CEU][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs8021583	0.96[CEU][hapmap]
rs8022041	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8022225	0.86[AFR][1000 genomes]
rs8023197	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap]
rs9323284	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs943590	0.81[EUR][1000 genomes]
rs946059	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9919926	0.92[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
2	nsv901957	chr14:55819219-55853724	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv983957	chr14:55836658-55843320	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2009291	FBXO34	cis	multi-tissue	Pritchard
rs2009291	RP11-665C16.6	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55801200-55842800	Weak transcription	Fetal Brain Male	brain
2	chr14:55808800-55865200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:55814400-55853200	Weak transcription	Right Atrium	heart
4	chr14:55818000-55841800	Weak transcription	Hela-S3	cervix
5	chr14:55818200-55842800	Weak transcription	Brain Angular Gyrus	brain
6	chr14:55818200-55877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:55818400-55858800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:55818800-55842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:55819200-55842800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:55819400-55847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:55819400-55850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55819400-55855200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:55819800-55842200	Weak transcription	HSMM	muscle
14	chr14:55821200-55842800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:55821400-55848800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:55821400-55849200	Weak transcription	Fetal Heart	heart
17	chr14:55821400-55865200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:55821800-55839800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:55821800-55840400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:55822200-55842800	Weak transcription	Brain Substantia Nigra	brain
21	chr14:55823200-55840600	Weak transcription	NHEK	skin
22	chr14:55823200-55848400	Weak transcription	HMEC	breast
23	chr14:55824000-55848400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:55830800-55839000	Strong transcription	Fetal Muscle Leg	muscle
25	chr14:55831000-55859400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:55831800-55858000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:55832000-55839600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:55832000-55840600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:55832000-55849600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:55832000-55850800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:55832400-55839200	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:55832400-55857800	Strong transcription	Liver	Liver
33	chr14:55832600-55838800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:55832600-55840200	Weak transcription	Primary B cells from cord blood	blood
35	chr14:55832800-55842400	Weak transcription	Fetal Kidney	kidney
36	chr14:55832800-55842800	Weak transcription	Pancreas	Pancrea
37	chr14:55832800-55842800	Weak transcription	Psoas Muscle	Psoas
38	chr14:55832800-55842800	Weak transcription	HUVEC	blood vessel
39	chr14:55833000-55842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:55833000-55845600	Weak transcription	Colonic Mucosa	Colon
41	chr14:55833800-55839200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:55834000-55840800	Strong transcription	Fetal Stomach	stomach
43	chr14:55834200-55838400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:55834200-55838400	Strong transcription	Adipose Nuclei	Adipose
45	chr14:55834200-55840600	Strong transcription	Fetal Intestine Small	intestine
46	chr14:55834200-55842400	Weak transcription	NHDF-Ad	bronchial
47	chr14:55835600-55840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:55836400-55838400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:55836400-55840800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:55836400-55842600	Weak transcription	A549	lung

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