Variant report

Variant	rs12386026
Chromosome Location	chr16:82817591-82817592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1037942	1.00[AMR][1000 genomes]
rs13380507	1.00[AMR][1000 genomes]
rs1350890	1.00[AMR][1000 genomes]
rs1381511	1.00[AMR][1000 genomes]
rs2873649	1.00[AMR][1000 genomes]
rs4238722	1.00[AMR][1000 genomes]
rs7199662	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv431523	chr16:82817006-82824214	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2753959	chr16:82817306-82823424	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Tuberculosis	20694014	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82805600-82821600	Weak transcription	NHEK	skin
2	chr16:82807200-82817800	Weak transcription	HMEC	breast
3	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:82813800-82819600	Enhancers	Fetal Muscle Leg	muscle
8	chr16:82814400-82819800	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
11	chr16:82816000-82817800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:82816000-82818000	Weak transcription	Colonic Mucosa	Colon
13	chr16:82816400-82818000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:82816400-82818000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:82816600-82818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:82816800-82817800	Weak transcription	Spleen	Spleen
17	chr16:82817000-82818000	Weak transcription	Aorta	Aorta
18	chr16:82817000-82818000	Weak transcription	Brain Germinal Matrix	brain
19	chr16:82817000-82818200	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:82817000-82819000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:82817000-82821600	Weak transcription	HSMMtube	muscle
22	chr16:82817200-82817800	Weak transcription	Left Ventricle	heart
23	chr16:82817200-82818400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:82817200-82818600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr16:82817200-82818800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:82817200-82819000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr16:82817200-82821600	Weak transcription	HSMM	muscle
28	chr16:82817200-82821800	Weak transcription	Right Atrium	heart
29	chr16:82817200-82838800	Weak transcription	Psoas Muscle	Psoas
30	chr16:82817400-82817800	Weak transcription	Right Ventricle	heart
31	chr16:82817400-82819800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr16:82817400-82821800	Weak transcription	NHLF	lung
33	chr16:82817400-82822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:82817400-82822000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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