Variant report

Variant	rs7149924
Chromosome Location	chr14:71982850-71982851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10147863	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.89[ASN][1000 genomes]
rs11846689	0.90[ASN][1000 genomes]
rs17096112	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap]
rs35169957	0.92[ASN][1000 genomes]
rs36531	0.85[ASN][1000 genomes]
rs36533	0.83[ASN][1000 genomes]
rs36534	0.81[ASN][1000 genomes]
rs3784060	0.88[ASN][1000 genomes]
rs40621	0.81[ASN][1000 genomes]
rs41220	0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs4140798	0.83[ASN][1000 genomes]
rs61989427	0.89[ASN][1000 genomes]
rs7150965	0.82[CHB][hapmap]
rs9972151	0.87[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	nsv498021	chr14:71874708-72128721	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7149924	ACOT2	cis	parietal	SCAN
rs7149924	SMOC1	cis	parietal	SCAN
rs7149924	SMOC1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71946000-71995600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:71965200-71988000	Weak transcription	HSMM	muscle
3	chr14:71966200-71996400	Weak transcription	NHEK	skin
4	chr14:71972600-72006400	Weak transcription	Fetal Thymus	thymus
5	chr14:71974400-71997400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:71974800-71985400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:71975800-71988200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:71976400-71988200	Weak transcription	NH-A	brain
9	chr14:71976800-71995600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:71976800-72008400	Weak transcription	Thymus	Thymus
11	chr14:71977200-71988200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:71977600-71995600	Weak transcription	Fetal Stomach	stomach
13	chr14:71977800-71984600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:71978000-71983000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:71978000-71988000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:71978000-71999400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr14:71978000-72002800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:71978200-71985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:71978200-72000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:71978400-71983400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:71978400-72002600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:71978400-72009400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:71978400-72014800	Weak transcription	HMEC	breast
24	chr14:71979000-71984600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:71979000-71987600	Weak transcription	Pancreas	Pancrea
26	chr14:71979000-71998400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:71979200-71995600	Weak transcription	Gastric	stomach
28	chr14:71979400-71984200	Strong transcription	GM12878-XiMat	blood
29	chr14:71979600-71983000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:71979600-71983000	Strong transcription	Osteobl	bone
31	chr14:71979600-71983400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:71980000-71984200	Weak transcription	Fetal Heart	heart
33	chr14:71980000-71995600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:71980000-71996400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:71980000-71996400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
37	chr14:71980200-71984600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:71980400-71985400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:71980400-71988000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:71980400-71988200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:71980600-71996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:71980800-71988000	Weak transcription	Fetal Intestine Large	intestine
43	chr14:71981000-71983600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:71981000-71985400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:71981200-71983000	Enhancers	Fetal Lung	lung
46	chr14:71981200-71988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:71981200-71995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:71981200-71996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:71981200-72002200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:71981400-71984800	Weak transcription	Primary T cells from cord blood	blood

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