Variant report

Variant	rs9933935
Chromosome Location	chr16:82912571-82912572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10781995	1.00[JPT][hapmap]
rs11150496	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs11150500	0.83[ASN][1000 genomes]
rs11150502	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11150507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150515	1.00[YRI][hapmap]
rs11150517	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs11150518	0.85[CHB][hapmap]
rs12446335	0.88[AMR][1000 genomes]
rs12716955	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12928678	1.00[CHB][hapmap]
rs1559311	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1559312	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs192598	0.89[ASW][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs192599	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs1947715	0.87[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap]
rs1991024	0.89[ASW][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs1991025	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs2059230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2061629	0.89[JPT][hapmap]
rs2113137	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2113138	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs2113139	0.94[ASN][1000 genomes]
rs2113140	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194283	0.83[ASN][1000 genomes]
rs2194285	1.00[ASW][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2216739	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs2325690	0.94[ASN][1000 genomes]
rs2549141	0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs2615127	0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2615128	0.80[ASW][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[ASN][1000 genomes]
rs2615133	0.81[ASN][1000 genomes]
rs286666	0.83[ASN][1000 genomes]
rs286667	0.83[ASN][1000 genomes]
rs286668	0.83[ASN][1000 genomes]
rs286674	0.85[ASN][1000 genomes]
rs286676	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs286678	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs286680	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.93[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs286682	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs286685	0.88[ASN][1000 genomes]
rs286687	1.00[ASW][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs34211526	0.92[ASN][1000 genomes]
rs35359335	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4485358	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[YRI][hapmap]
rs4513093	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4782734	0.89[JPT][hapmap]
rs4782736	0.86[CEU][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs4783290	1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[ASN][1000 genomes]
rs4783292	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4783293	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4783294	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes]
rs4783296	0.85[CHB][hapmap];0.85[MEX][hapmap]
rs6565075	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7184056	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7198913	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7201088	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7201829	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs7202068	0.85[CHB][hapmap]
rs7206473	0.85[CHB][hapmap]
rs7498269	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[ASN][1000 genomes]
rs8051136	0.88[ASW][hapmap];0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8052008	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8052174	1.00[YRI][hapmap]
rs8053647	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8063966	0.89[AMR][1000 genomes]
rs918659	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs918660	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs918661	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs929846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs929847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs929848	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9319576	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9319577	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9319578	0.85[CHB][hapmap]
rs9921828	0.88[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9921848	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9931196	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933586	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2830385	chr16:82841335-82950413	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv573382	chr16:82905546-82950502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3389464	chr16:82912226-82914624	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82886200-82917000	Weak transcription	Right Ventricle	heart
2	chr16:82905600-82921000	Weak transcription	Fetal Muscle Leg	muscle
3	chr16:82905800-82924800	Weak transcription	HSMM	muscle
4	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82908800-82914000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr16:82908800-82915000	Weak transcription	Left Ventricle	heart
7	chr16:82908800-82915000	Weak transcription	Right Atrium	heart
8	chr16:82908800-82922000	Weak transcription	Aorta	Aorta
9	chr16:82909000-82915000	Weak transcription	Fetal Brain Male	brain
10	chr16:82909400-82915200	Weak transcription	HUVEC	blood vessel
11	chr16:82909800-82921600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82910800-82913000	Enhancers	Rectal Smooth Muscle	rectum
14	chr16:82911000-82921800	Weak transcription	HSMMtube	muscle
15	chr16:82911800-82913000	Enhancers	Stomach Smooth Muscle	stomach
16	chr16:82911800-82915000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82912200-82912600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr16:82912200-82912800	Enhancers	Psoas Muscle	Psoas
19	chr16:82912400-82912800	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr16:82912400-82916000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:82912400-82916400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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