Variant report

Variant	rs6573752
Chromosome Location	chr14:67589792-67589793
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67578753..67580721-chr14:67589575..67592269,2	MCF-7	breast:
2	chr14:67584395..67586994-chr14:67589283..67591290,2	K562	blood:

Variant related genes	Relation type
ENSG00000171723	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10129779	0.81[JPT][hapmap]
rs10131984	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10132088	0.90[ASN][1000 genomes]
rs10133107	0.85[AMR][1000 genomes]
rs10134592	0.88[ASN][1000 genomes]
rs10135903	0.82[JPT][hapmap]
rs10136026	0.80[AMR][1000 genomes]
rs10136043	0.80[AMR][1000 genomes]
rs10136622	0.89[AMR][1000 genomes]
rs10138824	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs10138850	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10138952	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10139792	0.87[ASN][1000 genomes]
rs10140817	0.82[JPT][hapmap]
rs10141815	0.81[ASN][1000 genomes]
rs10141879	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs10141947	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10141952	0.92[ASN][1000 genomes]
rs10142059	0.85[AMR][1000 genomes]
rs10144090	0.86[CHD][hapmap];0.86[JPT][hapmap]
rs10144371	0.97[ASN][1000 genomes]
rs10144401	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs10145508	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145511	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10145586	0.81[JPT][hapmap]
rs10146663	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs10147852	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs10149600	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150145	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10150902	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs10151107	0.80[AMR][1000 genomes]
rs10151464	0.82[JPT][hapmap]
rs10431718	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1044745	0.90[EUR][1000 genomes]
rs10459453	0.82[JPT][hapmap]
rs10483793	0.92[ASN][1000 genomes]
rs1073605	0.82[AMR][1000 genomes]
rs1073607	0.82[JPT][hapmap]
rs1078194	0.91[JPT][hapmap]
rs10873200	0.82[JPT][hapmap]
rs11158652	0.88[AMR][1000 genomes]
rs11158653	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11158655	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs12323494	0.81[JPT][hapmap]
rs12323911	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs12588821	0.80[AMR][1000 genomes]
rs12589218	0.82[JPT][hapmap]
rs12590689	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590956	0.91[JPT][hapmap]
rs1318914	0.82[JPT][hapmap]
rs1473732	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1535491	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1546940	0.88[AMR][1000 genomes]
rs17104103	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs17104106	0.82[JPT][hapmap]
rs17104109	0.82[JPT][hapmap]
rs17104114	0.91[CEU][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap]
rs17104202	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17248252	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17248357	0.89[ASN][1000 genomes]
rs17248421	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs17248526	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1885589	0.81[JPT][hapmap]
rs1918483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1950282	0.85[AMR][1000 genomes]
rs1952337	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1955606	0.85[AMR][1000 genomes]
rs2039055	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2064489	0.85[AMR][1000 genomes]
rs2146229	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2146230	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2281676	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295903	0.85[ASN][1000 genomes]
rs2319777	0.90[EUR][1000 genomes]
rs28368552	0.87[ASN][1000 genomes]
rs28521373	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28662990	0.90[ASN][1000 genomes]
rs28718312	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28817965	0.80[AMR][1000 genomes]
rs3752993	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs3784078	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3844530	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3866760	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4636843	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58221168	0.83[ASN][1000 genomes]
rs59774616	0.81[ASN][1000 genomes]
rs60505324	0.81[EUR][1000 genomes]
rs61612119	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573747	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573748	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573749	0.80[ASN][1000 genomes]
rs6573750	0.81[ASN][1000 genomes]
rs6573754	0.86[ASN][1000 genomes]
rs6573755	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6573758	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573760	1.00[CEU][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573763	0.89[JPT][hapmap]
rs6573765	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7141519	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7145295	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7146638	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs7147207	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7147534	0.94[ASN][1000 genomes]
rs7148044	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7148425	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7149535	0.82[JPT][hapmap]
rs7149905	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7150089	0.89[ASN][1000 genomes]
rs7150739	0.81[ASN][1000 genomes]
rs7150934	0.82[ASN][1000 genomes]
rs7151898	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7152217	0.85[ASN][1000 genomes]
rs7152231	0.96[ASN][1000 genomes]
rs7152422	0.80[AMR][1000 genomes]
rs7152903	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs7154905	0.92[ASN][1000 genomes]
rs7156119	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7157126	0.84[AMR][1000 genomes]
rs7157394	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7157418	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7158228	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7161664	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs728647	0.80[AMR][1000 genomes]
rs73279056	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73280987	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7493580	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs768770	0.90[ASN][1000 genomes]
rs8003929	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8004148	0.83[CEU][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs8004488	1.00[CEU][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8004798	0.81[EUR][1000 genomes]
rs8005981	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8006281	0.89[ASN][1000 genomes]
rs8008236	0.82[JPT][hapmap]
rs8009087	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8009318	0.82[JPT][hapmap]
rs8010261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013724	0.90[ASN][1000 genomes]
rs8014966	0.82[JPT][hapmap]
rs8015819	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8015862	0.82[JPT][hapmap]
rs8016037	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs8018750	0.80[AMR][1000 genomes]
rs8019510	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8021098	0.89[AMR][1000 genomes]
rs8021896	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs9323490	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323491	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323492	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9323493	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323494	0.83[ASN][1000 genomes]
rs9743911	0.82[JPT][hapmap]

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	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6573752	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs6573752	FAM71D	cis	cerebellum	SCAN
rs6573752	ZFYVE26	cis	cerebellum	SCAN
rs6573752	EIF2S1	cis	lymphoblastoid	seeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67548400-67590200	Weak transcription	Esophagus	oesophagus
2	chr14:67554600-67604200	Weak transcription	HMEC	breast
3	chr14:67562600-67593800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:67567000-67593200	Weak transcription	Lung	lung
5	chr14:67568000-67618400	Weak transcription	Gastric	stomach
6	chr14:67569400-67590000	Weak transcription	Fetal Stomach	stomach
7	chr14:67570000-67589800	Weak transcription	Aorta	Aorta
8	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:67573200-67619800	Weak transcription	HepG2	liver
10	chr14:67573400-67591000	Weak transcription	Spleen	Spleen
11	chr14:67573400-67615000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:67574000-67589800	Weak transcription	Dnd41	blood
13	chr14:67574200-67589800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:67574200-67591800	Weak transcription	Fetal Lung	lung
15	chr14:67574600-67600600	Weak transcription	GM12878-XiMat	blood
16	chr14:67575800-67593000	Weak transcription	Primary T cells from cord blood	blood
17	chr14:67577800-67589800	Weak transcription	Fetal Intestine Large	intestine
18	chr14:67577800-67591800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:67579800-67591400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:67580000-67591600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:67580000-67622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:67583000-67591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea
24	chr14:67586200-67589800	Weak transcription	Fetal Brain Male	brain
25	chr14:67586600-67591600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:67586600-67607800	Weak transcription	Fetal Intestine Small	intestine
27	chr14:67587400-67593000	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:67587600-67589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:67587600-67593600	Strong transcription	Liver	Liver
30	chr14:67587800-67591600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:67587800-67593600	Weak transcription	Hela-S3	cervix
32	chr14:67588000-67592400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:67588000-67596200	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:67588000-67639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:67588200-67590600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:67588400-67590400	Strong transcription	Brain Substantia Nigra	brain
37	chr14:67588400-67590600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:67588400-67599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr14:67588400-67599400	Weak transcription	NHEK	skin
40	chr14:67588400-67639200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:67588600-67591800	Weak transcription	Brain Germinal Matrix	brain
42	chr14:67588600-67592000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:67588600-67638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:67588800-67590400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:67588800-67590400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:67588800-67591200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:67588800-67591200	Strong transcription	Brain Anterior Caudate	brain
48	chr14:67588800-67591400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:67588800-67591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:67588800-67592600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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