Variant report

Variant	rs10129301
Chromosome Location	chr14:72014006-72014007
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10130652	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10143346	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147863	0.82[ASW][hapmap];0.95[YRI][hapmap]
rs11627930	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628525	0.81[CEU][hapmap];0.84[CHB][hapmap];0.80[GIH][hapmap];0.82[TSI][hapmap]
rs12878009	0.96[CEU][hapmap]
rs12897119	0.96[CEU][hapmap]
rs12897977	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859551	0.88[CEU][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap]
rs193440	0.92[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2041330	0.88[CEU][hapmap]
rs2108048	0.85[ASN][1000 genomes]
rs3088206	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35958404	0.86[EUR][1000 genomes]
rs36528	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36532	0.81[ASN][1000 genomes]
rs36535	0.80[EUR][1000 genomes]
rs4464023	0.96[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.85[ASN][1000 genomes]
rs4902939	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6574014	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7141155	0.93[ASW][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7145435	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap]
rs7150965	0.87[CEU][hapmap];0.84[JPT][hapmap]
rs8007521	0.96[CEU][hapmap];0.91[YRI][hapmap]
rs8023058	0.80[ASW][hapmap];0.92[CEU][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap]

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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71978400-72014800	Weak transcription	HMEC	breast
2	chr14:71980000-72021200	Weak transcription	Hela-S3	cervix
3	chr14:71981400-72021400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:71997800-72017600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:72003000-72017800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:72006600-72019400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr14:72006600-72021800	Weak transcription	Small Intestine	intestine
8	chr14:72007200-72019600	Weak transcription	Primary B cells from cord blood	blood
9	chr14:72007200-72020200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:72007200-72021800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:72007400-72018200	Weak transcription	NHLF	lung
12	chr14:72007400-72020400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:72007600-72017400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:72007600-72017400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:72007800-72016800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:72007800-72017200	Weak transcription	Osteobl	bone
17	chr14:72008400-72017600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:72008400-72018200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:72008400-72018400	Weak transcription	Left Ventricle	heart
20	chr14:72009000-72015800	Weak transcription	GM12878-XiMat	blood
21	chr14:72009000-72017000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:72009200-72015400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:72009400-72017000	Weak transcription	Spleen	Spleen
24	chr14:72009600-72017200	Weak transcription	HSMM	muscle
25	chr14:72009800-72015400	Weak transcription	Fetal Heart	heart
26	chr14:72009800-72019600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:72010000-72020800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:72013000-72017400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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