Variant report

Variant	rs12928678
Chromosome Location	chr16:82922580-82922581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11150502	1.00[CHB][hapmap]
rs11150513	0.88[ASW][hapmap];0.88[CEU][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];0.89[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11150514	0.87[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11150515	1.00[JPT][hapmap]
rs11150516	0.81[ASN][1000 genomes]
rs11150517	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11150518	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11862361	0.82[ASN][1000 genomes]
rs12716955	0.89[ASN][1000 genomes]
rs1559311	0.81[ASN][1000 genomes]
rs1559312	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1862681	0.83[ASW][hapmap];0.84[GIH][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs1862682	0.83[ASW][hapmap];0.85[LWK][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs192598	0.85[CHB][hapmap]
rs192599	0.85[CHB][hapmap]
rs2059230	1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2113140	1.00[CHB][hapmap]
rs2194285	0.85[CHB][hapmap]
rs2194287	0.85[ASN][1000 genomes]
rs2216739	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs286676	0.82[CHB][hapmap]
rs286678	0.85[CHB][hapmap]
rs286680	0.85[CHB][hapmap]
rs286687	0.85[CHB][hapmap]
rs4485358	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4513093	1.00[CHB][hapmap]
rs4783292	0.81[ASN][1000 genomes]
rs4783293	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4783294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4783295	0.87[LWK][hapmap];0.82[MKK][hapmap];0.81[AFR][1000 genomes]
rs4783296	0.85[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs57863391	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6565075	1.00[CHB][hapmap]
rs7184056	1.00[CHB][hapmap]
rs7198913	0.85[CHB][hapmap]
rs7201088	1.00[CHB][hapmap]
rs7201829	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7202068	0.85[CHB][hapmap]
rs7206473	0.85[CHB][hapmap]
rs7498269	1.00[CHB][hapmap]
rs8051136	0.85[CHB][hapmap]
rs8052008	1.00[CHB][hapmap]
rs8052174	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8053647	1.00[CHB][hapmap]
rs8063966	0.91[ASN][1000 genomes]
rs918660	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs918661	1.00[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs929846	1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs929847	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs929848	0.82[CHB][hapmap];0.83[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs9319576	0.85[CHB][hapmap]
rs9319577	1.00[CHB][hapmap]
rs9319578	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9921828	1.00[CHB][hapmap]
rs9921848	1.00[CHB][hapmap]
rs9931196	1.00[CHB][hapmap]
rs9933586	1.00[CHB][hapmap]
rs9933935	1.00[CHB][hapmap]
rs9936039	0.85[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	nsv1064158	chr16:82919690-82935671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82905800-82924800	Weak transcription	HSMM	muscle
2	chr16:82905800-82925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:82910400-82932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:82915800-82953000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:82918800-82933400	Weak transcription	NHEK	skin
6	chr16:82920800-82922600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr16:82920800-82922600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr16:82920800-82922800	Enhancers	Fetal Stomach	stomach
9	chr16:82921000-82922600	Enhancers	Fetal Muscle Leg	muscle
10	chr16:82921600-82923000	Enhancers	Colon Smooth Muscle	Colon
11	chr16:82921800-82922600	Enhancers	Left Ventricle	heart
12	chr16:82921800-82922600	Enhancers	Rectal Smooth Muscle	rectum
13	chr16:82921800-82923200	Enhancers	Fetal Intestine Large	intestine
14	chr16:82921800-82923200	Enhancers	Fetal Intestine Small	intestine
15	chr16:82922000-82922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:82922000-82922600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:82922000-82922600	Enhancers	Aorta	Aorta
18	chr16:82922000-82922600	Enhancers	Right Atrium	heart
19	chr16:82922000-82923000	Enhancers	Fetal Lung	lung
20	chr16:82922200-82922600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr16:82922200-82922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:82922200-82922600	Enhancers	NH-A	brain
23	chr16:82922200-82922600	Active TSS	NHLF	lung
24	chr16:82922200-82922600	Flanking Active TSS	Osteobl	bone
25	chr16:82922200-82922800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr16:82922200-82923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr16:82922200-82924400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr16:82922400-82922600	Active TSS	Stomach Smooth Muscle	stomach
29	chr16:82922400-82922800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:82922400-82922800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr16:82922400-82924800	Weak transcription	Psoas Muscle	Psoas
32	chr16:82922400-82925000	Weak transcription	HSMMtube	muscle
33	chr16:82922400-82925200	Weak transcription	Right Ventricle	heart
34	chr16:82922400-82925800	Weak transcription	Muscle Satellite Cultured Cells	--

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