Variant report

Variant	rs56147221
Chromosome Location	chr12:26271368-26271369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:26271361-26271506	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr12:26270647-26271712	U87	brain:	n/a	n/a
3	POLR2A	chr12:26270965-26271665	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:26271035-26271610	U87	brain:	n/a	n/a
5	POLR2A	chr12:26271001-26271585	U87	brain:	n/a	n/a
6	POLR2A	chr12:26269293-26271656	PANC-1	pancreas:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26265498..26267129-chr12:26270346..26273975,3	K562	blood:
2	chr12:26269852..26272033-chr12:26274185..26277009,2	K562	blood:
3	chr12:26269560..26272553-chr12:26430642..26432199,2	MCF-7	breast:
4	chr12:26265498..26267038-chr12:26270346..26272635,2	K562	blood:

No data

Variant related genes	Relation type
SSPN	TF binding region
ENSG00000123096	Chromatin interaction
ENSG00000123095	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2643939	1.00[AMR][1000 genomes]
rs2643940	1.00[AMR][1000 genomes]
rs74072279	1.00[AMR][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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267400-26274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:26267800-26272200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:26268000-26272200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:26268000-26272200	Weak transcription	Aorta	Aorta
6	chr12:26268000-26272200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:26268000-26273800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:26268000-26274600	Weak transcription	Right Ventricle	heart
9	chr12:26268000-26274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
11	chr12:26268200-26271600	Weak transcription	HUVEC	blood vessel
12	chr12:26268200-26272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:26268200-26272400	Weak transcription	NH-A	brain
14	chr12:26268200-26273600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:26268200-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:26268400-26271400	Weak transcription	Adipose Nuclei	Adipose
17	chr12:26268400-26271600	Enhancers	Fetal Intestine Small	intestine
18	chr12:26268400-26272200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:26268400-26272200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr12:26268400-26272800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:26268800-26272200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:26269200-26271400	Enhancers	Fetal Intestine Large	intestine
23	chr12:26269400-26272200	Enhancers	Brain Substantia Nigra	brain
24	chr12:26269600-26271600	Enhancers	A549	lung
25	chr12:26269600-26272200	Weak transcription	Right Atrium	heart
26	chr12:26269600-26273000	Enhancers	Brain Anterior Caudate	brain
27	chr12:26269600-26274800	Weak transcription	Left Ventricle	heart
28	chr12:26269800-26272400	Enhancers	Primary B cells from cord blood	blood
29	chr12:26269800-26273400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:26269800-26274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:26270000-26272200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:26270000-26272200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:26270000-26272400	Weak transcription	NHEK	skin
34	chr12:26270000-26273600	Weak transcription	Psoas Muscle	Psoas
35	chr12:26270000-26274200	Enhancers	Colon Smooth Muscle	Colon
36	chr12:26270200-26271400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:26270200-26272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:26270200-26272200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:26270200-26272200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:26270200-26272800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:26270200-26273000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:26270200-26274400	Weak transcription	NHDF-Ad	bronchial
43	chr12:26270400-26272200	Weak transcription	HMEC	breast
44	chr12:26270400-26274600	Weak transcription	HSMMtube	muscle
45	chr12:26270600-26271800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:26270600-26272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:26270600-26272200	Weak transcription	K562	blood
48	chr12:26270600-26272600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:26270600-26274400	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:26270600-26274600	Weak transcription	Fetal Heart	heart

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