Variant report

Variant	rs9449
Chromosome Location	chr14:68213413-68213414
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10782455	0.85[ASN][1000 genomes]
rs11158691	0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11622772	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12431676	0.83[YRI][hapmap]
rs12433998	0.87[ASN][1000 genomes]
rs12435035	0.95[ASN][1000 genomes]
rs12590038	0.88[AFR][1000 genomes]
rs12879105	0.92[ASN][1000 genomes]
rs12881478	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17249563	0.93[YRI][hapmap]
rs1804799	0.92[LWK][hapmap]
rs2009590	0.83[YRI][hapmap]
rs3825726	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs742868	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs910315	1.00[LWK][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9449	ZFP36L1	cis	cerebellum	SCAN
rs9449	ESR2	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
7	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
8	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
10	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
11	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
12	chr14:68204400-68214800	Weak transcription	Gastric	stomach
13	chr14:68205800-68213600	Weak transcription	Placenta	Placenta
14	chr14:68206000-68213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:68206000-68213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:68206000-68213800	Weak transcription	Liver	Liver
17	chr14:68206000-68214000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
22	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
23	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
24	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
25	chr14:68206000-68216200	Weak transcription	NH-A	brain
26	chr14:68206200-68251000	Weak transcription	K562	blood
27	chr14:68206400-68214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:68206400-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:68206400-68214800	Weak transcription	HMEC	breast
30	chr14:68206400-68216800	Weak transcription	NHEK	skin
31	chr14:68206600-68214600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:68206600-68214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:68206600-68214600	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:68206600-68214600	Weak transcription	Fetal Intestine Small	intestine
35	chr14:68206600-68214600	Weak transcription	NHLF	lung
36	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:68206800-68213600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:68206800-68215000	Weak transcription	Hela-S3	cervix
39	chr14:68206800-68217600	Weak transcription	HepG2	liver
40	chr14:68207000-68214800	Weak transcription	A549	lung
41	chr14:68208000-68214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68209800-68214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:68210000-68214000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:68210200-68213800	Weak transcription	Lung	lung
45	chr14:68210200-68214000	Weak transcription	Brain Germinal Matrix	brain
46	chr14:68210600-68214000	Weak transcription	Aorta	Aorta
47	chr14:68210800-68214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:68210800-68214600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:68211000-68214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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