Variant report

Variant	rs16958619
Chromosome Location	chr16:82816475-82816476
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514566	0.82[GIH][hapmap]
rs11646849	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12597383	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12600161	0.87[CEU][hapmap]
rs12920400	0.87[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs12924560	0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.91[ASN][1000 genomes]
rs12925326	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12927253	0.94[ASN][1000 genomes]
rs12932553	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12933198	0.87[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1350891	0.82[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16958347	0.80[TSI][hapmap]
rs16958456	0.83[EUR][1000 genomes]
rs2126371	0.92[ASN][1000 genomes]
rs34271157	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35518553	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36047343	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56219641	0.84[ASN][1000 genomes]
rs67218876	0.83[EUR][1000 genomes]
rs67501551	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71402034	0.87[EUR][1000 genomes]
rs7184633	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs7196979	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs8056064	0.90[TSI][hapmap];0.81[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16958619	ZDHHC7	cis	parietal	SCAN
rs16958619	MBTPS1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:82805600-82821600	Weak transcription	NHEK	skin
3	chr16:82807200-82817800	Weak transcription	HMEC	breast
4	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82811200-82817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82811600-82816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82812800-82816800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr16:82812800-82817200	Enhancers	Psoas Muscle	Psoas
12	chr16:82813000-82817400	Enhancers	Right Ventricle	heart
13	chr16:82813800-82819600	Enhancers	Fetal Muscle Leg	muscle
14	chr16:82814400-82819800	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:82814600-82817000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr16:82814800-82817000	Enhancers	Aorta	Aorta
17	chr16:82815000-82817200	Enhancers	Colon Smooth Muscle	Colon
18	chr16:82815200-82816600	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:82815200-82817400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr16:82815400-82816600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr16:82815400-82817400	Enhancers	Fetal Intestine Small	intestine
22	chr16:82815600-82816800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr16:82815600-82816800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr16:82815600-82817000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:82815600-82817200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr16:82815600-82817200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr16:82815600-82817200	Enhancers	Left Ventricle	heart
28	chr16:82815600-82817200	Enhancers	Right Atrium	heart
29	chr16:82815600-82817200	Enhancers	HSMM	muscle
30	chr16:82815800-82816600	Enhancers	Stomach Smooth Muscle	stomach
31	chr16:82815800-82816800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:82815800-82817000	Enhancers	Lung	lung
33	chr16:82815800-82817200	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
36	chr16:82816000-82817000	Enhancers	HSMMtube	muscle
37	chr16:82816000-82817800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:82816000-82818000	Weak transcription	Colonic Mucosa	Colon
39	chr16:82816200-82816800	Enhancers	Adipose Nuclei	Adipose
40	chr16:82816200-82817000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr16:82816200-82817200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr16:82816200-82817200	Enhancers	Fetal Stomach	stomach
43	chr16:82816200-82817200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr16:82816200-82817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr16:82816400-82816600	Active TSS	Rectal Smooth Muscle	rectum
46	chr16:82816400-82816800	Enhancers	Spleen	Spleen
47	chr16:82816400-82817000	Enhancers	Brain Germinal Matrix	brain
48	chr16:82816400-82817000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr16:82816400-82817000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:82816400-82817000	Enhancers	Fetal Brain Male	brain

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