Variant report

Variant	rs3742721
Chromosome Location	chr14:81407921-81407922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:81407471-81408344	Hela-S3	cervix:	n/a	chr14:81408060-81408075
2	MYC	chr14:81407797-81408421	NB4	blood:	n/a	chr14:81408066-81408075
3	ELF1	chr14:81407455-81408515	MCF-7	breast:	n/a	chr14:81408115-81408124
4	TBL1XR1	chr14:81407876-81408399	K562	blood:	n/a	n/a
5	POLR2A	chr14:81407807-81408439	SK-N-MC	brain:	n/a	n/a
6	PAX5	chr14:81407874-81408249	GM12878	blood:	n/a	chr14:81408196-81408205
7	FOXP2	chr14:81407882-81408251	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr14:81407743-81408299	PANC-1	pancreas:	n/a	n/a
9	YY1	chr14:81407881-81408434	SK-N-SH_RA	brain:	n/a	chr14:81408112-81408123
10	MAX	chr14:81407517-81408467	Hela-S3	cervix:	n/a	chr14:81408066-81408075
11	POU2F2	chr14:81407903-81408281	GM12891	blood:	n/a	n/a
12	HMGN3	chr14:81407663-81408102	K562	blood:	n/a	n/a
13	ZBTB33	chr14:81407880-81408447	A549	lung:	n/a	n/a
14	SIN3AK20	chr14:81407357-81408773	MCF-7	breast:	n/a	n/a
15	YY1	chr14:81407906-81408315	GM12891	blood:	n/a	chr14:81408112-81408123
16	TAF1	chr14:81407704-81408464	H1-hESC	embryonic stem cell:	n/a	n/a
17	FOXM1	chr14:81407836-81408499	GM12878	blood:	n/a	chr14:81408146-81408154
18	TAF1	chr14:81407758-81408324	A549	lung:	n/a	n/a
19	TCF7L2	chr14:81407892-81408432	HEK293	kidney:	n/a	n/a
20	CHD2	chr14:81407569-81408446	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:81407642-81408406	U87	brain:	n/a	n/a
22	TBL1XR1	chr14:81407913-81408593	K562	blood:	n/a	n/a
23	ZBTB33	chr14:81407794-81408361	HCT-116	colon:	n/a	n/a
24	MXI1	chr14:81407248-81408597	IMR90	lung:	n/a	chr14:81408060-81408075
25	SP1	chr14:81407540-81408573	A549	lung:	n/a	chr14:81407903-81407917 chr14:81407798-81407807
26	ZNF263	chr14:81407411-81408581	HEK293-T-REx	kidney:	n/a	n/a
27	EBF1	chr14:81407900-81408893	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:81407814-81408180	HCT-116	colon:	n/a	n/a
29	YY1	chr14:81407896-81408281	A549	lung:	n/a	chr14:81408112-81408123
30	CHD2	chr14:81407738-81408272	K562	blood:	n/a	n/a
31	YY1	chr14:81407900-81408311	H1-hESC	embryonic stem cell:	n/a	chr14:81408112-81408123
32	POLR2A	chr14:81407841-81408125	GM12892	blood:	n/a	n/a
33	ELF1	chr14:81407906-81408299	K562	blood:	n/a	chr14:81408115-81408124
34	POLR2A	chr14:81407687-81408304	GM12892	blood:	n/a	n/a
35	ZBTB33	chr14:81407879-81408287	GM12878	blood:	n/a	n/a
36	SIN3AK20	chr14:81407739-81408299	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr14:81407841-81408147	HepG2	liver:	n/a	n/a
38	SMC3	chr14:81407547-81408429	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr14:81407844-81408207	HepG2	liver:	n/a	n/a
40	KAP1	chr14:81407882-81408485	U2OS	brain:	n/a	n/a
41	USF1	chr14:81407912-81408394	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr14:81407750-81408374	GM15510	blood:	n/a	n/a
43	ELF1	chr14:81407881-81408369	SK-N-SH	brain:	n/a	chr14:81408115-81408124
44	SIN3AK20	chr14:81407710-81408277	A549	lung:	n/a	n/a
45	NR2F2	chr14:81407610-81408550	MCF-7	breast:	n/a	n/a
46	MYC	chr14:81407908-81408280	MCF-7	breast:	n/a	chr14:81408066-81408075
47	YY1	chr14:81407858-81408365	ECC-1	luminal epithelium:	n/a	chr14:81408112-81408123
48	TCF7L2	chr14:81407709-81408739	HCT-116	colon:	n/a	n/a
49	RFX5	chr14:81407862-81408414	Hela-S3	cervix:	n/a	chr14:81408060-81408077 chr14:81408061-81408076 chr14:81408061-81408076
50	MXI1	chr14:81407881-81408984	GM12878	blood:	n/a	chr14:81408060-81408075

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10136404	0.88[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1016507	0.81[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs1016699	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1025253	0.84[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035144	0.80[JPT][hapmap]
rs11623416	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11627019	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11627929	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12050342	0.87[ASW][hapmap];0.93[YRI][hapmap]
rs12050416	0.89[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12431821	0.80[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap]
rs12432357	0.80[EUR][1000 genomes]
rs12433134	0.82[YRI][hapmap]
rs12434318	0.82[YRI][hapmap]
rs12434564	0.81[EUR][1000 genomes]
rs12878945	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs12880014	0.80[JPT][hapmap]
rs12888082	0.81[CEU][hapmap];0.85[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs12891585	0.93[JPT][hapmap]
rs12892825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895801	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1458993	0.81[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17111270	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs172920	0.83[EUR][1000 genomes]
rs17542615	0.81[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17542712	0.85[GIH][hapmap];0.95[JPT][hapmap]
rs17613911	0.80[JPT][hapmap]
rs17614081	0.90[JPT][hapmap]
rs1797670	0.81[EUR][1000 genomes]
rs2044737	0.85[EUR][1000 genomes]
rs2044738	0.80[EUR][1000 genomes]
rs2114703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2162548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2215981	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs2217174	0.83[EUR][1000 genomes]
rs2217176	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]
rs228110	0.81[EUR][1000 genomes]
rs228111	0.82[EUR][1000 genomes]
rs228118	0.83[EUR][1000 genomes]
rs228120	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes]
rs228121	0.83[EUR][1000 genomes]
rs228125	0.81[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs2371416	0.89[JPT][hapmap]
rs2371457	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2371462	0.83[EUR][1000 genomes]
rs2556601	0.83[EUR][1000 genomes]
rs2556605	0.82[EUR][1000 genomes]
rs2590480	0.85[CHD][hapmap]
rs2888046	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35540104	0.81[EUR][1000 genomes]
rs3742722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4411444	0.80[JPT][hapmap]
rs4523859	0.81[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs4899781	0.81[AFR][1000 genomes]
rs4899782	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4899783	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4903948	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];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4903954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574605	0.82[CHD][hapmap]
rs6574613	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67065081	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7141434	0.82[CHD][hapmap];0.80[JPT][hapmap]
rs7143407	0.81[EUR][1000 genomes]
rs7143744	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148368	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes]
rs7148618	0.80[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs7150858	0.85[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs7153979	0.81[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7154132	0.82[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154373	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7157845	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7159065	0.92[YRI][hapmap]
rs722906	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs728444	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7493314	0.92[YRI][hapmap]
rs759916	0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs759917	0.82[EUR][1000 genomes]
rs8003515	0.82[JPT][hapmap]
rs8003784	0.81[EUR][1000 genomes]
rs8005883	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006507	0.81[EUR][1000 genomes]
rs8009120	0.83[EUR][1000 genomes]
rs8009260	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016507	0.88[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs8016601	0.82[CEU][hapmap]
rs8021137	0.81[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8022411	0.84[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.83[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3742721	C14orf145	cis	parietal	SCAN
rs3742721	C14orf145	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81406400-81408400	Active TSS	GM12878-XiMat	blood
2	chr14:81406600-81408400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:81406600-81408400	Active TSS	Hela-S3	cervix
4	chr14:81406600-81408800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr14:81406600-81408800	Active TSS	NHLF	lung
6	chr14:81406800-81408400	Active TSS	A549	lung
7	chr14:81406800-81408400	Active TSS	HMEC	breast
8	chr14:81406800-81409000	Active TSS	K562	blood
9	chr14:81407000-81408400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:81407000-81408400	Active TSS	NHEK	skin
11	chr14:81407000-81408800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr14:81407000-81408800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:81407000-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81407200-81408200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:81407200-81408400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:81407200-81408400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:81407200-81408400	Active TSS	Ovary	ovary
18	chr14:81407200-81408600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:81407200-81408600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:81407200-81408600	Active TSS	Fetal Muscle Trunk	muscle
21	chr14:81407200-81408600	Active TSS	Right Ventricle	heart
22	chr14:81407200-81408800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr14:81407200-81408800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:81407200-81408800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr14:81407200-81408800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr14:81407200-81409000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:81407200-81409000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:81407200-81409000	Active TSS	HepG2	liver
29	chr14:81407400-81408000	Flanking Active TSS	Colonic Mucosa	Colon
30	chr14:81407400-81408000	Flanking Active TSS	Fetal Brain Male	brain
31	chr14:81407400-81408200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:81407400-81408200	Active TSS	Pancreas	Pancrea
33	chr14:81407400-81408200	Active TSS	Small Intestine	intestine
34	chr14:81407400-81408400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:81407400-81408400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:81407400-81408400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:81407400-81408400	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr14:81407400-81408400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr14:81407400-81408400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr14:81407400-81408400	Active TSS	Brain Angular Gyrus	brain
41	chr14:81407400-81408400	Active TSS	Brain Hippocampus Middle	brain
42	chr14:81407400-81408400	Active TSS	Fetal Kidney	kidney
43	chr14:81407400-81408600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr14:81407400-81408600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:81407400-81408600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:81407400-81408600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:81407400-81408600	Active TSS	Esophagus	oesophagus
48	chr14:81407400-81408600	Active TSS	Fetal Intestine Large	intestine
49	chr14:81407400-81408600	Active TSS	Right Atrium	heart
50	chr14:81407400-81408600	Active TSS	Skeletal Muscle Female	skeletal muscle

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