Variant report

Variant	rs12314796
Chromosome Location	chr12:32944087-32944088
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1046154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506100	1.00[CHB][hapmap]
rs10844370	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052269	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609744	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615523	1.00[CHB][hapmap]
rs12311719	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321916	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301619	1.00[CHB][hapmap]
rs7959085	1.00[ASN][1000 genomes]
rs7959230	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963225	1.00[CHB][hapmap]
rs7967264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:32934200-32945200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:32936200-32948800	Weak transcription	Fetal Stomach	stomach
4	chr12:32936400-32947000	Weak transcription	Fetal Heart	heart
5	chr12:32937400-32945400	Weak transcription	NHEK	skin
6	chr12:32938600-32948600	Weak transcription	Gastric	stomach
7	chr12:32938600-32952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:32938800-32945000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:32938800-32950600	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:32939000-32944800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:32939200-32955200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:32939400-32945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:32939600-32944800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:32939600-32945000	Weak transcription	Fetal Intestine Large	intestine
15	chr12:32940600-32946600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:32940800-32961800	Weak transcription	Colonic Mucosa	Colon
17	chr12:32941000-32944400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:32941200-32944400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:32941200-32949200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:32941800-32944800	Weak transcription	Placenta	Placenta
21	chr12:32941800-32945000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:32941800-32948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:32942000-32949400	Strong transcription	Liver	Liver
25	chr12:32942000-32957400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:32942200-32950600	Weak transcription	Ovary	ovary
27	chr12:32942400-32944200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:32942400-32950600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:32942600-32944200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr12:32942600-32944800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:32942600-32945000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:32942800-32944400	Weak transcription	HepG2	liver
33	chr12:32943000-32945000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr12:32943200-32944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:32943200-32946000	Strong transcription	HMEC	breast
36	chr12:32943200-32948200	Weak transcription	Right Ventricle	heart
37	chr12:32943400-32944400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:32943400-32945000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:32943400-32945000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:32943600-32944200	Weak transcription	Left Ventricle	heart
41	chr12:32943800-32947000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:32943800-32948600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
44	chr12:32944000-32949200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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