Variant report

Variant	rs2217176
Chromosome Location	chr14:81400050-81400051
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81397911..81402411-chr14:81683829..81688491,5	K562	blood:
2	chr14:81396050..81399080-chr14:81399956..81402754,3	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10136404	0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1016507	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1025253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035144	0.81[JPT][hapmap]
rs11623023	0.82[EUR][1000 genomes]
rs11623416	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11627019	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11627929	0.90[ASN][1000 genomes]
rs12431821	0.96[CEU][hapmap];0.87[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs12432357	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12434564	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12878945	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs12880014	0.87[CHB][hapmap]
rs12886388	0.82[EUR][1000 genomes]
rs12888082	0.96[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12891585	0.93[CHB][hapmap];0.93[JPT][hapmap]
rs12892825	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12895801	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458993	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17111270	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs172920	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17541411	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17542615	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17542712	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs17613911	0.88[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs17614081	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs179262	0.80[EUR][1000 genomes]
rs1797670	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044737	0.83[AMR][1000 genomes]
rs2044738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2114703	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2162548	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2215981	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2217174	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2246617	0.81[CHB][hapmap]
rs228110	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228111	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs228112	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs228118	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228120	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228121	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs228125	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2371416	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2371457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371462	0.84[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2556601	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2556605	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2590480	0.94[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs2888046	0.83[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35540104	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3742721	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3742722	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4411444	0.81[JPT][hapmap]
rs4523859	0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs4899782	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899783	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4903948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903954	0.88[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61979448	0.82[EUR][1000 genomes]
rs61979449	0.82[EUR][1000 genomes]
rs61979451	0.82[EUR][1000 genomes]
rs61979452	0.83[EUR][1000 genomes]
rs6574605	0.91[CHD][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs6574613	0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67065081	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7141130	0.86[EUR][1000 genomes]
rs7141434	0.88[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap]
rs71416852	0.85[EUR][1000 genomes]
rs7143407	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7143744	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148368	0.92[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs7148618	0.96[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7150858	0.85[CEU][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap]
rs7153979	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154132	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7154373	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs728444	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs759916	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759917	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003784	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8005883	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8006507	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8006864	0.86[EUR][1000 genomes]
rs8009120	0.84[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8009260	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8016601	0.95[CEU][hapmap]
rs8021137	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8022411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2217176	C14orf179	cis	cerebellum	SCAN
rs2217176	C14orf145	cis	parietal	SCAN
rs2217176	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81359400-81406000	Weak transcription	A549	lung
2	chr14:81359800-81407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:81375400-81407600	Weak transcription	Gastric	stomach
4	chr14:81379400-81407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:81382600-81406400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:81387800-81407200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:81390000-81405000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:81390000-81407200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:81392200-81407200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81392400-81406600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:81392600-81407200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81392600-81407200	Weak transcription	Fetal Stomach	stomach
13	chr14:81392800-81407400	Weak transcription	Esophagus	oesophagus
14	chr14:81393000-81407600	Weak transcription	Lung	lung
15	chr14:81393600-81407200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:81394000-81407400	Weak transcription	Left Ventricle	heart
17	chr14:81395000-81407400	Weak transcription	Fetal Intestine Large	intestine
18	chr14:81396000-81401000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
20	chr14:81397400-81407200	Weak transcription	Ovary	ovary
21	chr14:81397800-81400600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:81398000-81400600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr14:81398000-81407200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:81398000-81407200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:81398000-81407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:81398200-81406600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:81398200-81407000	Weak transcription	Primary T cells from cord blood	blood
28	chr14:81398200-81407200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:81398200-81407400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:81398400-81406000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:81398400-81406800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:81398600-81400800	Strong transcription	Fetal Thymus	thymus
33	chr14:81398600-81406400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:81398800-81406200	Genic enhancers	Dnd41	blood
35	chr14:81398800-81406600	Weak transcription	HMEC	breast
36	chr14:81398800-81407200	Weak transcription	Primary B cells from cord blood	blood
37	chr14:81399000-81400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:81399000-81402400	Weak transcription	NHEK	skin
39	chr14:81399000-81406400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr14:81399000-81406400	Weak transcription	GM12878-XiMat	blood
41	chr14:81399200-81400200	Enhancers	HSMMtube	muscle
42	chr14:81399200-81400600	Strong transcription	Thymus	Thymus
43	chr14:81399400-81400800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:81399400-81400800	Enhancers	Brain Germinal Matrix	brain
45	chr14:81399400-81400800	Enhancers	Fetal Heart	heart
46	chr14:81399400-81401000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:81399400-81406000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:81399600-81401400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:81399800-81400200	Weak transcription	HSMM	muscle
50	chr14:81399800-81400400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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