Variant report

Variant	rs2145423
Chromosome Location	chr14:68796930-68796931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68796742..68797604-chr14:68925516..68926046,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10083393	0.99[ASN][1000 genomes]
rs10131654	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs10136039	0.92[ASN][1000 genomes]
rs10141370	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10144669	0.86[JPT][hapmap]
rs1028577	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10483807	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1108590	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158728	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11158729	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158730	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11626138	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11626195	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11627646	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11628825	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11628890	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11628954	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12878627	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12878858	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12880109	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12880842	0.94[EUR][1000 genomes]
rs12881502	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12883719	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12884901	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12885750	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12886238	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12889949	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12890110	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890124	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890167	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12892777	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12896939	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1956523	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1956524	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1956525	0.96[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1956526	0.93[ASW][hapmap];0.96[CEU][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1956528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1956529	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1956532	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2013413	0.96[CEU][hapmap];0.90[GIH][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2064911	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2064912	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2145422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180769	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2180770	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2877455	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784104	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784106	0.88[GIH][hapmap]
rs3784108	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3784109	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3825730	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4410007	0.80[ASN][1000 genomes]
rs4899238	0.81[ASN][1000 genomes]
rs4902566	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs61985135	0.94[EUR][1000 genomes]
rs61985136	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7146850	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7147852	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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148073	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7148322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7148412	0.86[JPT][hapmap]
rs7149396	0.83[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap]
rs7150988	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7151629	0.90[GIH][hapmap]
rs7155473	0.91[EUR][1000 genomes]
rs7158493	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7493547	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs8013078	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs8017304	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8022860	0.81[ASN][1000 genomes]
rs911254	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs911255	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs911258	0.86[JPT][hapmap]
rs927220	1.00[GIH][hapmap]
rs9323506	0.97[ASN][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv428628	chr14:68674504-68835127	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv564962	chr14:68795209-68837882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv85374	chr14:68796718-68798084	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2145423	EIF2S1	cis	lymphoblastoid	seeQTL
rs2145423	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68769000-68810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:68785600-68812400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:68786600-68799000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:68786800-68798800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:68787400-68798400	Weak transcription	Fetal Stomach	stomach
6	chr14:68788200-68807000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:68789600-68810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:68790800-68799200	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:68792600-68798200	Weak transcription	Fetal Intestine Small	intestine
10	chr14:68793800-68798200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:68794400-68797400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:68794400-68798000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:68795000-68798200	Weak transcription	Primary B cells from cord blood	blood
14	chr14:68795400-68799200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:68796400-68798200	Weak transcription	GM12878-XiMat	blood
16	chr14:68796600-68799800	Enhancers	Fetal Lung	lung
17	chr14:68796800-68800200	Enhancers	Primary neutrophils fromperipheralblood	blood

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