Variant report

Variant	rs9930545
Chromosome Location	chr16:82815346-82815347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82810032..82812890-chr16:82813373..82816205,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1075797	1.00[ASN][1000 genomes]
rs11150493	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11642218	0.88[TSI][hapmap]
rs12385992	0.81[CEU][hapmap];1.00[ASN][1000 genomes]
rs12443737	1.00[ASN][1000 genomes]
rs12443745	1.00[ASN][1000 genomes]
rs12447750	1.00[ASN][1000 genomes]
rs12918559	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12926585	1.00[ASN][1000 genomes]
rs12933997	1.00[ASN][1000 genomes]
rs2061630	1.00[ASN][1000 genomes]
rs2199433	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28597677	1.00[ASN][1000 genomes]
rs4783269	0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs6565060	1.00[ASN][1000 genomes]
rs6565064	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7189966	0.82[CEU][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs7194913	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202898	0.93[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72805961	1.00[ASN][1000 genomes]
rs72837572	1.00[ASN][1000 genomes]
rs72837573	1.00[ASN][1000 genomes]
rs72837574	1.00[ASN][1000 genomes]
rs72837576	1.00[ASN][1000 genomes]
rs72837577	1.00[ASN][1000 genomes]
rs8046873	1.00[ASN][1000 genomes]
rs8048332	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922302	0.82[CEU][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs9933048	0.93[CEU][hapmap];0.80[TSI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	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
12	nsv1063412	chr16:82806653-82826507	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82803800-82815600	Weak transcription	HSMM	muscle
2	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:82805600-82821600	Weak transcription	NHEK	skin
4	chr16:82806800-82816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:82807000-82815400	Weak transcription	HSMMtube	muscle
6	chr16:82807200-82817800	Weak transcription	HMEC	breast
7	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:82811200-82817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:82811600-82816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr16:82811800-82815400	Weak transcription	Fetal Intestine Small	intestine
13	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:82812400-82816400	Weak transcription	Fetal Intestine Large	intestine
15	chr16:82812800-82815800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr16:82812800-82816800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr16:82812800-82817200	Enhancers	Psoas Muscle	Psoas
18	chr16:82813000-82817400	Enhancers	Right Ventricle	heart
19	chr16:82813800-82815600	Weak transcription	Right Atrium	heart
20	chr16:82813800-82819600	Enhancers	Fetal Muscle Leg	muscle
21	chr16:82814000-82815600	Weak transcription	Left Ventricle	heart
22	chr16:82814200-82816200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:82814400-82816400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr16:82814400-82819800	Enhancers	Primary B cells from peripheral blood	blood
25	chr16:82814600-82817000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr16:82814800-82815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr16:82814800-82817000	Enhancers	Aorta	Aorta
28	chr16:82815000-82815800	Enhancers	Adipose Nuclei	Adipose
29	chr16:82815000-82816000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr16:82815000-82816000	Enhancers	Colonic Mucosa	Colon
31	chr16:82815000-82816400	Weak transcription	Fetal Heart	heart
32	chr16:82815000-82817200	Enhancers	Colon Smooth Muscle	Colon
33	chr16:82815200-82815800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:82815200-82815800	Enhancers	HUVEC	blood vessel
35	chr16:82815200-82816000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:82815200-82816000	Enhancers	Primary B cells from cord blood	blood
37	chr16:82815200-82816000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr16:82815200-82816400	Weak transcription	Spleen	Spleen
39	chr16:82815200-82816600	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:82815200-82817400	Enhancers	HUES64 Cell Line	embryonic stem cell

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