Variant report

Variant	rs1295133
Chromosome Location	chr7:16312781-16312782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1012401	0.86[EUR][1000 genomes]
rs1012402	0.86[EUR][1000 genomes]
rs10252017	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1034959	0.85[CEU][hapmap]
rs11975989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1295131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1295134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1295136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1295142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1295149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1295150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1295152	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1295161	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1295162	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1295163	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1295165	0.87[AFR][1000 genomes]
rs13230369	0.86[EUR][1000 genomes]
rs1527204	0.85[EUR][1000 genomes]
rs1528137	0.91[CEU][hapmap]
rs17150163	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1918859	0.84[CEU][hapmap]
rs2056419	0.93[CEU][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap]
rs2056420	0.92[CEU][hapmap]
rs28837728	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6945873	0.93[CEU][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948950	chr7:16168925-16395434	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757214	chr7:16236162-16334228	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv34298	chr7:16251754-16324185	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1022388	chr7:16251992-16431864	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1017498	chr7:16262300-16313476	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1022814	chr7:16262300-16339988	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16305200-16313200	Weak transcription	Fetal Lung	lung
2	chr7:16305600-16312800	Weak transcription	Gastric	stomach
3	chr7:16307200-16312800	Weak transcription	Ovary	ovary
4	chr7:16308800-16318000	Weak transcription	Left Ventricle	heart
5	chr7:16310200-16313400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:16310400-16312800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:16310400-16315400	ZNF genes & repeats	K562	blood
8	chr7:16310800-16313200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:16311000-16312800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:16311000-16313200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:16311400-16315600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:16311400-16318000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:16311600-16319000	Weak transcription	Aorta	Aorta
14	chr7:16312000-16312800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:16312000-16312800	Weak transcription	Fetal Stomach	stomach
16	chr7:16312200-16315800	Weak transcription	Fetal Heart	heart
17	chr7:16312400-16313000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:16312400-16313000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:16312400-16318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:16312400-16332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16312600-16312800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:16312600-16312800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:16312600-16313000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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