Variant report

Variant	rs387027
Chromosome Location	chr16:12085343-12085344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12068975..12070484-chr16:12084406..12086978,2	K562	blood:
2	chr16:12079547..12082011-chr16:12083989..12085646,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs378372	0.86[AMR][1000 genomes]
rs393276	0.84[AMR][1000 genomes]
rs417938	0.86[AMR][1000 genomes]
rs446289	0.82[AMR][1000 genomes]
rs86428	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs387027	RP11-166B2.1	cis	Adipose Subcutaneous	GTEx
rs387027	RP11-166B2.1	cis	Esophagus Muscularis	GTEx
rs387027	RP11-166B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs387027	RP11-166B2.1	cis	Nerve Tibial	GTEx
rs387027	RP11-166B2.1	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12088200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
4	chr16:12072000-12086200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:12072000-12087200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:12072000-12088200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:12072000-12093600	Weak transcription	Fetal Stomach	stomach
8	chr16:12072200-12087400	Weak transcription	Fetal Thymus	thymus
9	chr16:12072200-12088200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:12072200-12088200	Weak transcription	Right Ventricle	heart
11	chr16:12072200-12093800	Weak transcription	Thymus	Thymus
12	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr16:12072400-12086200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:12072400-12086200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:12072400-12087200	Weak transcription	Primary T cells from cord blood	blood
17	chr16:12072400-12096400	Weak transcription	Ovary	ovary
18	chr16:12072400-12104400	Weak transcription	NHLF	lung
19	chr16:12072600-12086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:12072600-12094000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:12072600-12094000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr16:12074600-12088200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:12079600-12085800	Weak transcription	Lung	lung
26	chr16:12079600-12109600	Weak transcription	Gastric	stomach
27	chr16:12080200-12090000	Weak transcription	Aorta	Aorta
28	chr16:12080200-12093800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:12080600-12088000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:12082000-12091400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr16:12082000-12093000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:12082200-12086000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr16:12082200-12087400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr16:12083200-12086800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:12083400-12085800	Weak transcription	Pancreas	Pancrea
36	chr16:12083400-12086200	Weak transcription	Primary B cells from cord blood	blood
37	chr16:12083400-12102800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr16:12083600-12086000	Weak transcription	Placenta	Placenta
39	chr16:12083600-12088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:12083800-12086000	Weak transcription	Adipose Nuclei	Adipose
41	chr16:12083800-12088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr16:12083800-12088400	Weak transcription	K562	blood
43	chr16:12084000-12085800	Weak transcription	HepG2	liver
44	chr16:12084000-12087200	Weak transcription	Spleen	Spleen
45	chr16:12084000-12092000	Weak transcription	NHDF-Ad	bronchial
46	chr16:12084400-12085400	Enhancers	Brain Substantia Nigra	brain
47	chr16:12084400-12088200	Weak transcription	Left Ventricle	heart
48	chr16:12084400-12088200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:12084400-12088200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:12084600-12086600	Enhancers	Brain Hippocampus Middle	brain

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