Variant report

Variant	rs7591759
Chromosome Location	chr2:179692967-179692968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10185678	0.90[JPT][hapmap]
rs10186056	0.92[JPT][hapmap]
rs10206931	0.82[AFR][1000 genomes]
rs10497523	0.82[MEX][hapmap]
rs12185628	0.81[ASN][1000 genomes]
rs17453312	0.90[CHB][hapmap];0.85[ASN][1000 genomes]
rs6433735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7591759	CCDC141	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179685000-179693800	Weak transcription	HSMM	muscle
3	chr2:179685000-179694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr2:179685200-179694000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:179685200-179694000	Weak transcription	HSMMtube	muscle
6	chr2:179685200-179698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:179685600-179698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:179685800-179693400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:179685800-179698000	Weak transcription	Fetal Heart	heart
10	chr2:179689400-179693800	Enhancers	HUVEC	blood vessel
11	chr2:179690400-179694000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:179690600-179693000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:179690600-179693000	Weak transcription	Left Ventricle	heart
14	chr2:179690600-179701800	Weak transcription	Lung	lung
15	chr2:179690600-179701800	Weak transcription	Pancreas	Pancrea
16	chr2:179691400-179694400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:179692000-179693400	Strong transcription	Primary T cells from cord blood	blood
18	chr2:179692200-179693000	Enhancers	Aorta	Aorta
19	chr2:179692200-179693200	Enhancers	HepG2	liver
20	chr2:179692200-179694600	Enhancers	Psoas Muscle	Psoas
21	chr2:179692400-179693200	Flanking Active TSS	Osteobl	bone
22	chr2:179692400-179694200	Enhancers	NH-A	brain
23	chr2:179692400-179694600	Enhancers	Brain Germinal Matrix	brain
24	chr2:179692600-179693000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:179692600-179693000	Active TSS	Adipose Nuclei	Adipose
26	chr2:179692600-179693200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:179692600-179693200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:179692600-179693200	Genic enhancers	Fetal Muscle Leg	muscle
29	chr2:179692600-179693400	Enhancers	Right Ventricle	heart
30	chr2:179692600-179693400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr2:179692600-179693400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:179692600-179693400	Enhancers	Spleen	Spleen
33	chr2:179692600-179694200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:179692600-179695600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:179692600-179695600	Enhancers	Fetal Lung	lung
36	chr2:179692600-179695800	Enhancers	Fetal Brain Male	brain
37	chr2:179692600-179695800	Enhancers	Fetal Brain Female	brain
38	chr2:179692800-179693200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:179692800-179693200	Active TSS	Right Atrium	heart
40	chr2:179692800-179693400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:179692800-179693400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:179692800-179694000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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