Variant report

Variant	rs12373097
Chromosome Location	chr16:73068515-73068516
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73029969..73032717-chr16:73066881..73070752,3	MCF-7	breast:
2	chr16:73067802..73070400-chr16:73071930..73073928,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11860416	0.93[JPT][hapmap]
rs6499604	0.86[JPT][hapmap]
rs6499605	0.85[JPT][hapmap]
rs876727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][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	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12373097	DPEP2	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73049400-73069200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:73059000-73072000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:73059400-73076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:73059600-73069800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr16:73059800-73069600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr16:73059800-73070000	Weak transcription	Colonic Mucosa	Colon
8	chr16:73060600-73072600	Enhancers	Fetal Lung	lung
9	chr16:73061200-73070000	Enhancers	Placenta	Placenta
10	chr16:73062400-73071800	Weak transcription	Spleen	Spleen
11	chr16:73062800-73069800	Weak transcription	Stomach Mucosa	stomach
12	chr16:73063200-73070200	Weak transcription	Esophagus	oesophagus
13	chr16:73063200-73073800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:73064600-73070000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:73064600-73074400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr16:73064800-73069200	Enhancers	Brain Anterior Caudate	brain
17	chr16:73064800-73069800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:73065200-73068600	Enhancers	Fetal Kidney	kidney
19	chr16:73065200-73069800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:73065200-73070200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:73065200-73072400	Enhancers	Fetal Muscle Leg	muscle
22	chr16:73065200-73072600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:73065200-73074000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:73065400-73068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:73065400-73069200	Enhancers	Fetal Stomach	stomach
26	chr16:73065600-73069000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr16:73065800-73068600	Enhancers	Primary B cells from peripheral blood	blood
28	chr16:73065800-73068600	Enhancers	Fetal Heart	heart
29	chr16:73065800-73069800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:73066000-73068800	Enhancers	HSMMtube	muscle
31	chr16:73066000-73069600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:73066200-73068600	Enhancers	Fetal Intestine Large	intestine
33	chr16:73066200-73070200	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:73066400-73068600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:73066600-73068800	Enhancers	Adipose Nuclei	Adipose
36	chr16:73066600-73069600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:73066800-73068800	Enhancers	Lung	lung
38	chr16:73066800-73068800	Enhancers	Right Atrium	heart
39	chr16:73066800-73069000	Enhancers	Psoas Muscle	Psoas
40	chr16:73066800-73069200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr16:73066800-73069200	Enhancers	Left Ventricle	heart
42	chr16:73066800-73070000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
43	chr16:73067000-73068800	Enhancers	NHLF	lung
44	chr16:73067000-73069000	Enhancers	Gastric	stomach
45	chr16:73067000-73070600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:73067000-73079200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:73067200-73068600	Weak transcription	Aorta	Aorta
48	chr16:73067200-73068600	Weak transcription	Pancreas	Pancrea
49	chr16:73067200-73068800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:73067200-73068800	Enhancers	HSMM	muscle

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