Variant report

Variant	rs17108711
Chromosome Location	chr14:71392732-71392733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71392610..71393238-chr8:101964260..101964764,2	NB4	blood:

Variant related genes	Relation type
ENSG00000164924	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10137675	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148633	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10220379	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10483835	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11847244	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12432180	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432587	0.81[ASN][1000 genomes]
rs12433409	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.94[MEX][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12435253	0.82[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12435675	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12878013	0.92[EUR][1000 genomes]
rs12880918	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12881674	0.90[CHB][hapmap];0.86[CHD][hapmap];0.89[MEX][hapmap]
rs12888201	0.94[EUR][1000 genomes]
rs12891140	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12891245	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs12891445	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892262	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12893528	0.84[ASN][1000 genomes]
rs12894731	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12895177	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896855	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1468469	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17093729	0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs17108694	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17108730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17108753	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108755	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17108869	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108873	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108897	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17109008	0.81[ASN][1000 genomes]
rs2051865	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2158998	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286312	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2286314	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2526891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34119685	0.88[ASN][1000 genomes]
rs34335220	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34740221	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34785361	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34927411	0.92[EUR][1000 genomes]
rs34968850	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34971726	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34998980	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35041597	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35092982	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35127721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35168506	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35523654	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35714454	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35725944	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs36089307	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4488390	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4614662	0.96[EUR][1000 genomes]
rs4902872	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4902873	0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4902874	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[ASN][1000 genomes]
rs4902877	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902878	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61990447	0.86[ASN][1000 genomes]
rs71425225	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71425229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71425386	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71427104	0.92[EUR][1000 genomes]
rs7146777	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7148530	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7152435	0.81[ASN][1000 genomes]
rs7158548	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs73297555	0.83[ASN][1000 genomes]
rs7492431	0.90[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs8015773	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs917066	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs987579	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs989500	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17108711	CSF3	trans	brain	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71375600-71398400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:71376000-71396800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:71376000-71401000	Weak transcription	Lung	lung
4	chr14:71376600-71398400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:71377400-71395000	Weak transcription	Brain Angular Gyrus	brain
6	chr14:71377400-71396800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:71378000-71393000	Weak transcription	Right Atrium	heart
8	chr14:71378000-71400600	Weak transcription	Fetal Kidney	kidney
9	chr14:71379600-71392800	Weak transcription	Ovary	ovary
10	chr14:71379600-71408200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:71379600-71410400	Weak transcription	Aorta	Aorta
12	chr14:71380000-71398200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:71380400-71400800	Weak transcription	Fetal Intestine Large	intestine
14	chr14:71380600-71394200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr14:71381400-71394000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:71381600-71394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:71382400-71394200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:71384000-71401200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:71384200-71393000	Weak transcription	Fetal Brain Female	brain
20	chr14:71384200-71395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:71384200-71408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:71384600-71402000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:71386800-71393000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:71386800-71393000	Weak transcription	Left Ventricle	heart
25	chr14:71386800-71393000	Weak transcription	Right Ventricle	heart
26	chr14:71386800-71396800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:71386800-71400600	Weak transcription	Fetal Stomach	stomach
28	chr14:71387000-71392800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:71387000-71396600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr14:71387000-71398000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:71387200-71393000	Weak transcription	Primary B cells from cord blood	blood
32	chr14:71387200-71408400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:71387600-71392800	Weak transcription	Brain Substantia Nigra	brain
34	chr14:71387600-71393000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:71387800-71393000	Weak transcription	Psoas Muscle	Psoas
36	chr14:71388200-71392800	Weak transcription	Adipose Nuclei	Adipose
37	chr14:71388200-71392800	Weak transcription	Fetal Lung	lung
38	chr14:71388200-71402000	Weak transcription	HSMM	muscle
39	chr14:71388200-71410400	Weak transcription	Thymus	Thymus
40	chr14:71388400-71400800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:71388800-71393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:71388800-71393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:71388800-71393200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:71388800-71394400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:71388800-71396800	Weak transcription	HMEC	breast
46	chr14:71388800-71397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:71388800-71400200	Weak transcription	Fetal Intestine Small	intestine
48	chr14:71388800-71400400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:71388800-71400600	Weak transcription	NHLF	lung
50	chr14:71388800-71408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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