Variant report

Variant	rs772469
Chromosome Location	chr12:56294833-56294834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55954216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59977939	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61658243	1.00[AMR][1000 genomes]
rs7302270	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs772470	0.88[AFR][1000 genomes]
rs772471	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
3	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
5	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
6	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
8	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:56292600-56298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:56292800-56295000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:56292800-56295200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:56292800-56295400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:56292800-56295400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:56292800-56295400	Weak transcription	Dnd41	blood
16	chr12:56292800-56295400	Weak transcription	NHEK	skin
17	chr12:56292800-56295600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:56292800-56295600	Weak transcription	Aorta	Aorta
19	chr12:56292800-56295600	Weak transcription	Gastric	stomach
20	chr12:56292800-56295600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:56292800-56295800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:56292800-56296800	Weak transcription	Colonic Mucosa	Colon
23	chr12:56292800-56297200	Strong transcription	Fetal Brain Female	brain
24	chr12:56292800-56297600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:56292800-56297600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:56292800-56297600	Strong transcription	Primary B cells from cord blood	blood
27	chr12:56292800-56297600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:56292800-56297800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:56292800-56298000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:56292800-56316000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:56293000-56295000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:56293000-56295200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:56293000-56295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:56293000-56295400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:56293000-56295400	Weak transcription	Brain Substantia Nigra	brain
36	chr12:56293000-56295400	Weak transcription	Small Intestine	intestine
37	chr12:56293000-56297200	Strong transcription	Placenta	Placenta
38	chr12:56293000-56298000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:56293000-56307800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:56293200-56296600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:56293200-56296800	Weak transcription	NH-A	brain
42	chr12:56293200-56299800	Weak transcription	HSMMtube	muscle
43	chr12:56293200-56307000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:56293200-56307200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:56293200-56307400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:56293400-56295000	Weak transcription	NHDF-Ad	bronchial
47	chr12:56293400-56295200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:56293400-56295200	Weak transcription	HepG2	liver
49	chr12:56293400-56295400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:56293400-56295400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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