Variant report

Variant	rs10507195
Chromosome Location	chr12:106067049-106067050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10746036	0.88[AFR][1000 genomes]
rs2374537	0.88[EUR][1000 genomes]
rs2374542	0.83[CEU][hapmap];0.82[ASN][1000 genomes]
rs4145261	0.88[EUR][1000 genomes]
rs7133311	0.84[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10507195	STAB2	cis	cerebellum	SCAN
rs10507195	CRY1	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106064200-106067400	Enhancers	Fetal Muscle Leg	muscle
2	chr12:106064800-106067400	Enhancers	Fetal Stomach	stomach
3	chr12:106065000-106067200	Enhancers	Fetal Lung	lung
4	chr12:106065200-106067200	Enhancers	Adipose Nuclei	Adipose
5	chr12:106065200-106067200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:106065400-106067600	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:106065600-106067200	Enhancers	Colon Smooth Muscle	Colon
8	chr12:106065800-106067200	Enhancers	Fetal Heart	heart
9	chr12:106066000-106067200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:106066000-106067200	Enhancers	Placenta	Placenta
11	chr12:106066000-106067200	Enhancers	Stomach Mucosa	stomach
12	chr12:106066200-106067200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:106066400-106067200	Enhancers	Aorta	Aorta
14	chr12:106066600-106068000	Weak transcription	Left Ventricle	heart
15	chr12:106066600-106068000	Weak transcription	Lung	lung
16	chr12:106066600-106068000	Weak transcription	Right Atrium	heart
17	chr12:106066600-106068800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:106066600-106069200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:106066600-106069400	Weak transcription	Psoas Muscle	Psoas
20	chr12:106066600-106069800	Weak transcription	Gastric	stomach
21	chr12:106066600-106070400	Weak transcription	Esophagus	oesophagus
22	chr12:106066600-106070400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:106066600-106070400	Weak transcription	HUVEC	blood vessel
24	chr12:106066600-106070600	Weak transcription	Right Ventricle	heart
25	chr12:106066600-106076800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:106066800-106068600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:106067000-106067200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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