Variant report

Variant	rs7132908
Chromosome Location	chr12:50263148-50263149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50261492..50264871-chr12:50267070..50272951,8	MCF-7	breast:
2	chr12:50170196..50170788-chr12:50262782..50263466,2	K562	blood:
3	chr12:50262671..50263209-chr12:50339105..50339936,2	MCF-7	breast:
4	chr12:50261163..50264047-chr12:50337700..50340324,2	MCF-7	breast:
5	chr12:50262446..50266372-chr12:50284381..50286469,3	MCF-7	breast:
6	chr12:50262939..50264614-chr12:50267218..50269332,2	K562	blood:
7	chr12:50256208..50258929-chr12:50261762..50264247,4	K562	blood:
8	chr12:50260980..50264141-chr12:50355537..50358895,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257588	Chromatin interaction
ENSG00000242041	Chromatin interaction
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11169176	0.84[CEU][hapmap]
rs12146733	0.89[ASN][1000 genomes]
rs12367809	0.86[EUR][1000 genomes]
rs17201502	0.85[JPT][hapmap]
rs1893492	0.91[ASN][1000 genomes]
rs297924	0.83[GIH][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap]
rs3205718	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138803	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7132908	RAPGEF3	cis	parietal	SCAN
rs7132908	ANP32D	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50260600-50263200	Enhancers	Fetal Brain Female	brain
2	chr12:50260600-50263400	Enhancers	Brain Anterior Caudate	brain
3	chr12:50260600-50263800	Enhancers	Brain Hippocampus Middle	brain
4	chr12:50260600-50264600	Enhancers	Fetal Brain Male	brain
5	chr12:50260600-50265200	Enhancers	Right Ventricle	heart
6	chr12:50260600-50267600	Enhancers	HSMM	muscle
7	chr12:50260600-50268200	Enhancers	HSMMtube	muscle
8	chr12:50260600-50268600	Enhancers	Fetal Muscle Leg	muscle
9	chr12:50260800-50263400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:50260800-50263600	Enhancers	Brain Angular Gyrus	brain
11	chr12:50260800-50263600	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:50260800-50263600	Enhancers	Brain Substantia Nigra	brain
13	chr12:50260800-50263800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:50260800-50263800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:50260800-50263800	Enhancers	Pancreas	Pancrea
16	chr12:50260800-50263800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:50260800-50263800	Enhancers	Stomach Mucosa	stomach
18	chr12:50260800-50264000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:50260800-50264000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:50260800-50264000	Enhancers	Fetal Intestine Small	intestine
21	chr12:50261000-50263400	Enhancers	Brain Germinal Matrix	brain
22	chr12:50261000-50263400	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:50261000-50263600	Enhancers	Fetal Stomach	stomach
24	chr12:50261000-50263800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr12:50261000-50264200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50261000-50264200	Enhancers	Fetal Lung	lung
27	chr12:50261000-50264200	Enhancers	Placenta	Placenta
28	chr12:50261000-50265000	Enhancers	Fetal Heart	heart
29	chr12:50261000-50265400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:50261000-50268200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:50261200-50263800	Enhancers	Colonic Mucosa	Colon
32	chr12:50261200-50263800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:50261200-50263800	Enhancers	Fetal Intestine Large	intestine
34	chr12:50261200-50263800	Enhancers	Lung	lung
35	chr12:50261200-50264000	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:50261200-50264600	Enhancers	Left Ventricle	heart
37	chr12:50261200-50265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:50261200-50267000	Enhancers	Right Atrium	heart
39	chr12:50261400-50263200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:50261400-50263400	Enhancers	Fetal Kidney	kidney
41	chr12:50261400-50263800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:50261400-50263800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:50261400-50263800	Enhancers	Osteobl	bone
44	chr12:50261400-50264000	Enhancers	Ovary	ovary
45	chr12:50261600-50263600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:50261600-50264000	Enhancers	HUVEC	blood vessel
47	chr12:50261600-50265800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:50261800-50263800	Enhancers	Gastric	stomach
49	chr12:50261800-50264000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:50261800-50265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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