Variant report

Variant	rs73517804
Chromosome Location	chr16:12173699-12173700
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12069629..12072468-chr16:12173207..12175470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048471	Chromatin interaction
ENSG00000234719	Chromatin interaction
ENSG00000260488	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1703539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1703543	0.81[AFR][1000 genomes]
rs2869807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8050480	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv977111	chr16:12161129-12220593	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:12142800-12189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr16:12146000-12183400	Weak transcription	Fetal Intestine Large	intestine
4	chr16:12148000-12183400	Weak transcription	Fetal Lung	lung
5	chr16:12153400-12177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:12156000-12185800	Weak transcription	Brain Germinal Matrix	brain
7	chr16:12156000-12185800	Weak transcription	Fetal Brain Female	brain
8	chr16:12157000-12175800	Weak transcription	Fetal Kidney	kidney
9	chr16:12157000-12181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:12157000-12181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:12157200-12173800	Weak transcription	Osteobl	bone
12	chr16:12157200-12183200	Weak transcription	NHLF	lung
13	chr16:12157200-12185800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:12157800-12174000	Weak transcription	Left Ventricle	heart
15	chr16:12157800-12181400	Weak transcription	Right Ventricle	heart
16	chr16:12157800-12185800	Weak transcription	HSMMtube	muscle
17	chr16:12160600-12174000	Weak transcription	Spleen	Spleen
18	chr16:12162200-12181400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:12163600-12181600	Weak transcription	Brain Substantia Nigra	brain
20	chr16:12163600-12183600	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:12163800-12181600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:12167600-12185800	Weak transcription	HSMM	muscle
23	chr16:12168800-12173800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr16:12168800-12174000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr16:12169200-12176400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr16:12170000-12176800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr16:12170000-12178600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:12170000-12183400	Weak transcription	HepG2	liver
29	chr16:12170200-12183400	Weak transcription	Colonic Mucosa	Colon
30	chr16:12170400-12176800	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr16:12170400-12179600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr16:12170600-12182000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr16:12170800-12176000	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:12170800-12179200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:12171000-12179600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:12171200-12174000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:12171400-12178000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:12171400-12180400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:12171600-12180200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:12171800-12175600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:12171800-12178400	Strong transcription	Adipose Nuclei	Adipose
42	chr16:12172200-12173800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr16:12172200-12178000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:12172400-12173800	Enhancers	Stomach Mucosa	stomach
45	chr16:12172400-12174600	Strong transcription	Brain Cingulate Gyrus	brain
46	chr16:12172400-12175600	Strong transcription	Pancreas	Pancrea
47	chr16:12172400-12176400	Strong transcription	NHDF-Ad	bronchial
48	chr16:12172400-12178600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:12172600-12173800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr16:12172600-12173800	Strong transcription	Brain Angular Gyrus	brain

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