Variant report

Variant	rs12465233
Chromosome Location	chr2:179729341-179729342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179726925..179728501-chr2:179728978..179731077,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12052272	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][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	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
2	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12465233	CCDC141	cis	Muscle Skeletal	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
3	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179724200-179729600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:179724200-179730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:179724600-179733400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:179724800-179730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:179724800-179732800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:179726200-179730400	Weak transcription	Fetal Brain Male	brain
13	chr2:179726400-179733400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:179726800-179729800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:179727000-179729600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:179727800-179729400	Enhancers	Fetal Lung	lung
17	chr2:179727800-179730600	Enhancers	HUVEC	blood vessel
18	chr2:179727800-179730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:179727800-179730800	Enhancers	NHDF-Ad	bronchial
20	chr2:179727800-179731200	Strong transcription	Primary T cells from cord blood	blood
21	chr2:179728000-179729600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:179728000-179729800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:179728000-179730400	Enhancers	Brain Germinal Matrix	brain
24	chr2:179728000-179730600	Enhancers	NH-A	brain
25	chr2:179728200-179729400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:179728200-179729400	Flanking Active TSS	NHLF	lung
27	chr2:179728200-179729800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:179728200-179753800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:179728400-179729400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:179728400-179729400	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr2:179728400-179729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:179728400-179729600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:179728400-179729600	Flanking Active TSS	HSMMtube	muscle
34	chr2:179728400-179730400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:179728400-179730600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:179728400-179730600	Enhancers	Hela-S3	cervix
37	chr2:179728400-179731000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:179728600-179729400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:179728600-179729400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:179728600-179729400	Enhancers	Spleen	Spleen
41	chr2:179728600-179729600	Enhancers	Pancreas	Pancrea
42	chr2:179728600-179729800	Enhancers	Fetal Muscle Trunk	muscle
43	chr2:179728600-179730600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:179728600-179730600	Enhancers	Fetal Stomach	stomach
45	chr2:179728600-179730800	Enhancers	Ovary	ovary
46	chr2:179728800-179729400	Weak transcription	HMEC	breast
47	chr2:179728800-179729600	Enhancers	Aorta	Aorta
48	chr2:179728800-179729600	Enhancers	Left Ventricle	heart
49	chr2:179728800-179729600	Flanking Active TSS	Psoas Muscle	Psoas
50	chr2:179728800-179729800	Flanking Active TSS	Fetal Heart	heart

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