Variant report

Variant	rs73303630
Chromosome Location	chr12:32994467-32994468
allele	C/T
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]
rs16920249	0.83[ASN][1000 genomes]
rs1869652	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57166215	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59531342	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61500775	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73299972	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301718	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301732	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301756	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301779	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73301791	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972313	0.83[ASN][1000 genomes]
rs9919823	0.86[EUR][1000 genomes];0.83[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	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
7	chr12:32974600-33004400	Weak transcription	Ovary	ovary
8	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:32986600-32995200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr12:32987200-32995200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:32987400-32996600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:32987600-32996200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:32987800-32996400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:32988600-32995000	Strong transcription	Liver	Liver
15	chr12:32988800-32994800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:32989000-32998200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr12:32989400-32996200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:32989800-32995200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:32990200-32996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:32990400-32996600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:32990600-32997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:32991000-32994800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:32991000-32996200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:32991200-32997000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:32991800-32996800	Strong transcription	NHEK	skin
26	chr12:32992000-33007200	Weak transcription	Stomach Mucosa	stomach
27	chr12:32993000-32996400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:32993000-33000000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:32993000-33002200	Weak transcription	Gastric	stomach
30	chr12:32993000-33030400	Weak transcription	Colonic Mucosa	Colon
31	chr12:32993200-32995400	Weak transcription	Left Ventricle	heart
32	chr12:32993200-32995600	Enhancers	Fetal Heart	heart
33	chr12:32993200-32996200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:32993400-32996200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:32993400-33013600	Weak transcription	Pancreas	Pancrea
36	chr12:32993600-32995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:32993600-32996200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:32993600-32996200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr12:32993600-32999000	Weak transcription	HepG2	liver
40	chr12:32993800-32995200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:32993800-32996400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:32993800-33002200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:32993800-33018000	Weak transcription	Fetal Stomach	stomach
44	chr12:32994000-32994800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:32994000-32996200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:32994000-32996400	Weak transcription	Fetal Intestine Large	intestine
47	chr12:32994200-32996200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:32994200-32996400	Weak transcription	HMEC	breast
49	chr12:32994200-32999000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:32994200-33002600	Weak transcription	Placenta	Placenta

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