Variant report

Variant	rs2068368
Chromosome Location	chr7:3988558-3988559
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3973154..3974793-chr7:3987448..3990268,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1013492	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10227007	0.95[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10230104	0.95[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10240160	0.95[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10260999	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264343	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10264360	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10277771	0.87[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs11977815	0.91[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12534781	0.82[AMR][1000 genomes]
rs12701279	0.87[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12701280	0.82[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12701281	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12701282	0.90[CEU][hapmap];0.92[CHB][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12701283	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12701284	0.87[CEU][hapmap];0.83[CHB][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12701287	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs12701291	0.91[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12701293	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12701296	0.91[CEU][hapmap];0.83[CHD][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12701305	0.87[CEU][hapmap];0.90[CHD][hapmap];0.93[TSI][hapmap]
rs12701311	0.91[CEU][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap]
rs12701325	0.83[AMR][1000 genomes]
rs17134054	0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17134098	0.82[CEU][hapmap]
rs2010279	0.82[CEU][hapmap]
rs2016180	0.95[CEU][hapmap];0.92[CHB][hapmap];0.81[AMR][1000 genomes]
rs2040937	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2044224	0.91[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2044225	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2120331	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3735305	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801066	0.86[CEU][hapmap];0.83[CHB][hapmap]
rs3801067	0.92[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4720116	0.81[AMR][1000 genomes]
rs4720128	0.82[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs4723267	0.91[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4723268	0.86[CEU][hapmap]
rs4723269	0.95[CEU][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723270	0.86[CEU][hapmap];0.85[AMR][1000 genomes]
rs4723275	0.87[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs4723277	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs4723284	0.87[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6462476	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951851	0.87[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6965800	0.87[CEU][hapmap];0.87[CHD][hapmap];0.90[TSI][hapmap]
rs6978757	0.87[CEU][hapmap];0.87[CHD][hapmap];0.90[TSI][hapmap]
rs7784194	0.95[CEU][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7789580	0.87[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes]
rs7801639	0.81[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs7805988	0.87[CEU][hapmap]
rs7810787	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025497	chr7:3905444-4176032	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538686	chr7:3905444-4176032	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv433014	chr7:3910039-4054769	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1019086	chr7:3968656-4044519	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv538687	chr7:3968656-4044519	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2068368	WIPI2	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3972600-3990800	Weak transcription	Pancreas	Pancrea
2	chr7:3983800-3991200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:3984600-3989600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:3984600-3989800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:3986800-3989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:3987400-3989800	Enhancers	HepG2	liver
7	chr7:3987600-3995200	Weak transcription	Esophagus	oesophagus
8	chr7:3988000-3989000	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:3988000-3989200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:3988000-3989200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:3988200-3988600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3988200-3988800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:3988200-3988800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr7:3988200-3988800	Enhancers	Right Atrium	heart
15	chr7:3988200-3988800	Enhancers	Spleen	Spleen
16	chr7:3988200-3988800	Flanking Active TSS	HSMMtube	muscle
17	chr7:3988200-3988800	Enhancers	NHEK	skin
18	chr7:3988200-3989000	Enhancers	Fetal Heart	heart
19	chr7:3988200-3989000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:3988200-3989000	Enhancers	HSMM	muscle
21	chr7:3988200-3989200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:3988200-3989200	Enhancers	Fetal Stomach	stomach
23	chr7:3988200-3990000	Enhancers	Fetal Brain Male	brain
24	chr7:3988400-3988600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr7:3988400-3988600	Enhancers	Left Ventricle	heart
26	chr7:3988400-3988600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr7:3988400-3988800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:3988400-3988800	Active TSS	HUVEC	blood vessel
29	chr7:3988400-3989000	Flanking Active TSS	Fetal Lung	lung
30	chr7:3988400-3989000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:3988400-3990600	Weak transcription	Aorta	Aorta
32	chr7:3988400-4005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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