Variant report

Variant	rs12102388
Chromosome Location	chr16:70545529-70545530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70540632..70543302-chr16:70543960..70546369,2	K562	blood:
2	chr16:70544130..70547050-chr16:70547300..70550126,3	K562	blood:
3	chr16:70540803..70547043-chr16:70555255..70559706,8	MCF-7	breast:
4	chr16:70544999..70547135-chr16:70556883..70559246,2	K562	blood:
5	chr16:70544700..70547086-chr16:70561359..70563295,2	MCF-7	breast:
6	chr16:70366698..70368203-chr16:70543911..70546004,2	K562	blood:
7	chr16:70542244..70550034-chr16:70550058..70558887,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11075774	1.00[EUR][1000 genomes]
rs12102523	1.00[EUR][1000 genomes]
rs12102525	1.00[EUR][1000 genomes]
rs12325225	0.87[AMR][1000 genomes]
rs13330945	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13334712	0.87[AMR][1000 genomes]
rs13335470	1.00[EUR][1000 genomes]
rs13336968	1.00[EUR][1000 genomes]
rs13337689	1.00[AMR][1000 genomes]
rs1902563	1.00[EUR][1000 genomes]
rs1979594	0.87[AMR][1000 genomes]
rs28434516	1.00[EUR][1000 genomes]
rs28613466	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28780486	1.00[EUR][1000 genomes]
rs28814369	1.00[EUR][1000 genomes]
rs57301833	0.87[AMR][1000 genomes]
rs60020150	1.00[EUR][1000 genomes]
rs60337219	1.00[EUR][1000 genomes]
rs60575688	1.00[AMR][1000 genomes]
rs60611474	1.00[EUR][1000 genomes]
rs60774382	1.00[EUR][1000 genomes]
rs7186416	1.00[EUR][1000 genomes]
rs7200891	0.87[AMR][1000 genomes]
rs7202133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045340	0.87[AMR][1000 genomes]
rs8056766	1.00[EUR][1000 genomes]
rs8057766	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061423	1.00[EUR][1000 genomes]
rs8063038	1.00[EUR][1000 genomes]
rs8064220	1.00[EUR][1000 genomes]
rs891138	0.87[AMR][1000 genomes]
rs9921696	1.00[AMR][1000 genomes]
rs9924352	0.87[AMR][1000 genomes]
rs9925510	1.00[AMR][1000 genomes]
rs9938385	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:70518000-70545800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:70528000-70553800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:70528800-70556400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:70530600-70545800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:70532000-70545600	Weak transcription	A549	lung
8	chr16:70536600-70554000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:70536800-70546200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:70536800-70554000	Strong transcription	Fetal Stomach	stomach
11	chr16:70537000-70546400	Strong transcription	Fetal Intestine Small	intestine
12	chr16:70537200-70554000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:70537800-70552600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:70537800-70553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:70537800-70553800	Strong transcription	Liver	Liver
16	chr16:70538800-70552200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr16:70539600-70552400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr16:70539600-70553800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:70539800-70552000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr16:70539800-70552600	Strong transcription	Primary T cells from cord blood	blood
21	chr16:70539800-70552600	Strong transcription	Fetal Intestine Large	intestine
22	chr16:70539800-70552600	Strong transcription	Fetal Muscle Leg	muscle
23	chr16:70539800-70553000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:70539800-70553800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:70539800-70553800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr16:70539800-70553800	Strong transcription	Placenta	Placenta
27	chr16:70540000-70546400	Strong transcription	Pancreas	Pancrea
28	chr16:70540000-70552400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:70540000-70553000	Strong transcription	Thymus	Thymus
30	chr16:70540200-70551000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:70540200-70553800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr16:70540200-70554000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr16:70540400-70546000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr16:70540400-70546000	Strong transcription	Osteobl	bone
35	chr16:70540400-70552600	Strong transcription	Brain Germinal Matrix	brain
36	chr16:70540600-70546200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:70540600-70552200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr16:70540600-70552400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:70540600-70552600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr16:70540800-70551400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:70540800-70552200	Strong transcription	Spleen	Spleen
42	chr16:70540800-70552400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:70540800-70553000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:70541000-70546600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr16:70541000-70552400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:70541000-70552400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:70541000-70552400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr16:70541000-70552600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr16:70541000-70552600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr16:70541000-70552600	Strong transcription	Fetal Thymus	thymus

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