Variant report

Variant	rs8015712
Chromosome Location	chr14:103895840-103895841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10144051	0.83[CEU][hapmap]
rs10148970	0.83[CEU][hapmap]
rs10162425	0.88[CEU][hapmap]
rs1107070	0.83[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs1116095	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11621300	0.81[CEU][hapmap]
rs12432803	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12435516	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12436729	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs17841064	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2756132	0.88[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs2756135	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2765051	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs34411783	0.81[ASN][1000 genomes]
rs35233301	0.80[ASN][1000 genomes]
rs35410438	0.80[ASN][1000 genomes]
rs3759577	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs4906319	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs4906320	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4906329	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs60235428	0.80[ASN][1000 genomes]
rs6575982	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs6575988	0.83[CEU][hapmap]
rs7140647	0.81[ASN][1000 genomes]
rs7147664	0.82[CEU][hapmap]
rs7148567	0.83[CEU][hapmap]
rs7149767	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs8010247	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap]
rs8014013	0.83[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs8016326	0.81[CEU][hapmap]
rs8018400	0.83[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs8020912	0.81[CEU][hapmap]
rs8022179	0.81[CEU][hapmap]
rs911552	0.81[JPT][hapmap]
rs911554	0.81[JPT][hapmap]
rs911555	0.81[JPT][hapmap]
rs9671414	0.83[CEU][hapmap]
rs975892	0.83[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8015712	BAG5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
2	chr14:103874600-103900800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:103879000-103914200	Weak transcription	Esophagus	oesophagus
4	chr14:103879000-103941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103880400-103904600	Weak transcription	Fetal Kidney	kidney
6	chr14:103881000-103900600	Weak transcription	Placenta	Placenta
7	chr14:103883400-103900000	Weak transcription	Fetal Thymus	thymus
8	chr14:103883800-103896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:103884200-103897200	Weak transcription	Fetal Intestine Small	intestine
10	chr14:103888200-103900400	Weak transcription	HepG2	liver
11	chr14:103889400-103917800	Weak transcription	Gastric	stomach
12	chr14:103890000-103896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:103890000-103900200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:103890000-103900400	Weak transcription	Aorta	Aorta
15	chr14:103890000-103922400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:103890200-103900200	Weak transcription	NHLF	lung
17	chr14:103890200-103900400	Weak transcription	Thymus	Thymus
18	chr14:103890200-103900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:103890200-103900600	Weak transcription	HSMMtube	muscle
20	chr14:103890200-103905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:103890200-103914200	Weak transcription	Lung	lung
22	chr14:103890800-103897800	Weak transcription	Fetal Stomach	stomach
23	chr14:103891000-103904000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr14:103891200-103900000	Weak transcription	Primary B cells from cord blood	blood
25	chr14:103891200-103900400	Weak transcription	Fetal Intestine Large	intestine
26	chr14:103892000-103896200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:103892000-103896200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:103892200-103896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:103892800-103896000	Enhancers	K562	blood
30	chr14:103893000-103904600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:103893200-103905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:103893400-103896000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:103893400-103896000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:103893600-103896000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr14:103893600-103896200	Enhancers	Brain Substantia Nigra	brain
36	chr14:103893800-103896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:103893800-103896000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr14:103893800-103896000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:103893800-103896000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr14:103893800-103896000	Enhancers	Adipose Nuclei	Adipose
41	chr14:103893800-103896000	Enhancers	Brain Cingulate Gyrus	brain
42	chr14:103893800-103896000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:103893800-103896200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr14:103893800-103896200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:103894200-103896000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:103894200-103899000	Weak transcription	Brain Germinal Matrix	brain
47	chr14:103894200-103900400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:103894400-103897200	Weak transcription	Left Ventricle	heart
49	chr14:103894400-103897400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:103894400-103900000	Weak transcription	Primary T cells fromperipheralblood	blood

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