Variant report

Variant	rs7426114
Chromosome Location	chr2:152527572-152527573
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	chr2:152525703..152527793-chr2:152563733..152565410,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10167462	0.94[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap]
rs10170273	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10178880	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10193188	0.94[CEU][hapmap];0.82[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1054883	0.87[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs10930723	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930740	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11695661	0.82[ASW][hapmap];0.94[CEU][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs11896217	0.82[GIH][hapmap]
rs11904536	0.84[EUR][1000 genomes]
rs12052828	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12328501	0.99[EUR][1000 genomes]
rs12464543	0.94[CEU][hapmap];0.90[GIH][hapmap];0.80[EUR][1000 genomes]
rs12472627	0.87[GIH][hapmap]
rs12616767	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12618063	0.90[GIH][hapmap]
rs12620077	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12693090	0.83[EUR][1000 genomes]
rs13032138	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13404704	1.00[CEU][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs13428975	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1357468	0.80[CEU][hapmap]
rs1523181	0.82[GIH][hapmap]
rs1799	0.87[CEU][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs2344733	0.87[CEU][hapmap]
rs34577613	0.83[ASN][1000 genomes]
rs3768658	0.82[GIH][hapmap]
rs4077121	0.94[CEU][hapmap]
rs4077122	0.94[CEU][hapmap]
rs4271765	0.89[ASN][1000 genomes]
rs4273217	0.93[CEU][hapmap];0.94[JPT][hapmap]
rs4289189	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4300824	0.92[GIH][hapmap]
rs4374369	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4375863	0.81[EUR][1000 genomes]
rs4381781	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4393745	0.82[GIH][hapmap]
rs4413159	0.94[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs4414677	0.87[GIH][hapmap]
rs4425075	0.94[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4453694	0.85[GIH][hapmap]
rs4465763	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs4510224	0.82[GIH][hapmap]
rs4536649	1.00[CEU][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.97[EUR][1000 genomes]
rs4564765	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4564766	0.94[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4611637	0.94[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs4614931	0.94[CEU][hapmap];0.86[GIH][hapmap];0.85[MEX][hapmap]
rs4625904	0.94[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap]
rs4664494	0.88[CEU][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs4664497	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs4664498	0.90[GIH][hapmap]
rs4664499	0.82[GIH][hapmap]
rs4664501	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs5005569	0.82[EUR][1000 genomes]
rs6433566	0.84[EUR][1000 genomes]
rs6433569	0.86[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6433575	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6711382	0.90[GIH][hapmap]
rs6712443	0.82[CHD][hapmap];0.90[GIH][hapmap]
rs6712533	0.82[CHD][hapmap];0.90[GIH][hapmap]
rs6713162	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6715755	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6716286	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs6723129	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6729101	0.87[CEU][hapmap];0.81[GIH][hapmap]
rs6730589	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6733811	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6733909	0.94[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6734148	0.94[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6735208	0.94[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes]
rs6747113	0.85[ASN][1000 genomes]
rs6760384	0.94[CEU][hapmap]
rs7424335	0.90[GIH][hapmap]
rs7563441	0.94[CEU][hapmap]
rs7564024	1.00[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.94[EUR][1000 genomes]
rs7564674	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7596744	0.87[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap]
rs9287990	1.00[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv469804	chr2:152404429-152570882	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv482520	chr2:152404429-152570882	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7426114	NEB	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152504400-152531600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:152505200-152543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:152511200-152531200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr2:152511400-152531400	Strong transcription	Fetal Muscle Leg	muscle
5	chr2:152514600-152542800	Strong transcription	HSMMtube	muscle
6	chr2:152515400-152529000	Weak transcription	Aorta	Aorta
7	chr2:152520400-152528600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:152521600-152537800	Weak transcription	Psoas Muscle	Psoas
9	chr2:152525400-152530000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:152525600-152527800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:152525600-152533000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:152525800-152527600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:152526000-152527800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:152526000-152527800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:152526000-152527800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:152526200-152527800	Enhancers	Fetal Heart	heart
17	chr2:152526200-152527800	Enhancers	Fetal Intestine Small	intestine
18	chr2:152526400-152528000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:152526600-152527600	Enhancers	K562	blood
20	chr2:152527000-152527800	Enhancers	Right Atrium	heart
21	chr2:152527200-152536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:152527400-152527600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:152527400-152527600	Enhancers	Fetal Intestine Large	intestine
24	chr2:152527400-152527600	Enhancers	Spleen	Spleen
25	chr2:152527400-152529400	Enhancers	Fetal Lung	lung
26	chr2:152527400-152532800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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