Variant report

Variant	rs7979800
Chromosome Location	chr12:12356423-12356424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:12355979-12356471	SK-N-SH_RA	brain:	n/a	chr12:12356041-12356051

Variant related genes	Relation type
LRP6	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7309038	0.90[AFR][1000 genomes]
rs7965177	1.00[AMR][1000 genomes]
rs7979804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1050715	chr12:12293072-12383820	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12312200-12362000	Weak transcription	Hela-S3	cervix
2	chr12:12315400-12371600	Weak transcription	Lung	lung
3	chr12:12325400-12360000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:12334400-12367600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:12335200-12365800	Weak transcription	NHEK	skin
6	chr12:12336200-12360000	Weak transcription	Aorta	Aorta
7	chr12:12336200-12363200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:12336200-12369800	Weak transcription	Left Ventricle	heart
9	chr12:12336200-12381000	Weak transcription	Pancreas	Pancrea
10	chr12:12336400-12357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:12339200-12357600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:12340600-12359400	Weak transcription	Ovary	ovary
13	chr12:12342200-12360000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:12344000-12367800	Weak transcription	NHLF	lung
15	chr12:12344200-12367200	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:12344200-12367400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:12344200-12367800	Weak transcription	NH-A	brain
18	chr12:12344200-12377000	Weak transcription	NHDF-Ad	bronchial
19	chr12:12347600-12367800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:12348800-12367000	Weak transcription	HUVEC	blood vessel
21	chr12:12349000-12367600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:12351200-12356800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:12351400-12361800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:12351600-12356800	Weak transcription	Placenta	Placenta
25	chr12:12351800-12360000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:12352000-12356600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:12352200-12362000	Weak transcription	Brain Angular Gyrus	brain
28	chr12:12352200-12367200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:12352400-12356600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:12352400-12360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:12352600-12364400	Weak transcription	HSMM	muscle
32	chr12:12352600-12367600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:12353200-12356600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:12353200-12358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:12353200-12367400	Weak transcription	Fetal Kidney	kidney
36	chr12:12353400-12357400	Weak transcription	Fetal Brain Female	brain
37	chr12:12353400-12367000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:12353800-12359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:12354600-12367800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:12354800-12370400	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:12355000-12367800	Weak transcription	Gastric	stomach
42	chr12:12355400-12367400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:12355400-12367600	Weak transcription	Osteobl	bone
44	chr12:12355400-12369400	Weak transcription	Adipose Nuclei	Adipose
45	chr12:12355600-12357200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:12355600-12357400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:12355600-12365800	Weak transcription	Fetal Intestine Small	intestine
48	chr12:12355600-12367600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:12355600-12367600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:12355600-12367800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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