Variant report

Variant	rs4243739
Chromosome Location	chr14:103871837-103871838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10144051	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148970	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10151483	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10162425	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11160751	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1116095	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1138400	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11620897	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11627446	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12431617	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12432803	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12435516	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12436729	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12436759	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12436956	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12588272	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12878548	0.87[AMR][1000 genomes]
rs12879085	0.81[AFR][1000 genomes]
rs12894652	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17841064	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273701	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2273702	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2403174	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2403192	0.81[ASN][1000 genomes]
rs2756132	0.80[EUR][1000 genomes]
rs2756135	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34251103	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34411783	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34831235	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35233301	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35410438	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35512556	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3759575	0.83[ASN][1000 genomes]
rs3759577	0.84[ASN][1000 genomes]
rs3783399	0.81[ASN][1000 genomes]
rs4143998	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4243738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900580	0.80[AMR][1000 genomes]
rs4906320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4906322	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906324	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4906329	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55658071	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55742283	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57344120	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60235428	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575982	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6575985	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6575986	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6575988	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6575991	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140647	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7144010	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7144271	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7145753	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146215	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7147640	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7147664	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7148567	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148614	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149767	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7156036	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7156471	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7159668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160888	0.80[ASN][1000 genomes]
rs8003740	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8010247	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8014013	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8014800	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8015429	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8016676	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018400	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9671414	0.81[ASN][1000 genomes]
rs975892	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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
rs4243739	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103855000-103874800	Weak transcription	Fetal Brain Male	brain
2	chr14:103861000-103874800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:103861000-103882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:103862000-103919400	Weak transcription	Colonic Mucosa	Colon
5	chr14:103865000-103872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:103866600-103883400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:103868200-103872400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:103868400-103872200	Weak transcription	Placenta	Placenta
9	chr14:103868400-103878400	Weak transcription	Fetal Kidney	kidney
10	chr14:103868400-103880000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:103868400-103883200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:103868400-103883800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:103868600-103872200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:103868600-103883200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:103869200-103872200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:103869200-103874400	Weak transcription	HepG2	liver
17	chr14:103869200-103878400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:103869400-103874200	Weak transcription	Small Intestine	intestine
19	chr14:103869600-103882800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:103869800-103872000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:103870400-103874000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:103870600-103878400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:103870800-103872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:103870800-103872000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:103870800-103873400	Weak transcription	Hela-S3	cervix
26	chr14:103870800-103873400	Weak transcription	NH-A	brain
27	chr14:103870800-103874000	Weak transcription	A549	lung
28	chr14:103870800-103883200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:103870800-103883200	Weak transcription	HSMMtube	muscle
30	chr14:103871000-103873200	Weak transcription	Primary T cells from cord blood	blood
31	chr14:103871000-103873400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:103871000-103874200	Weak transcription	K562	blood
33	chr14:103871000-103874800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:103871000-103874800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:103871000-103874800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:103871000-103875200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:103871000-103875200	Strong transcription	GM12878-XiMat	blood
38	chr14:103871000-103875400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:103871000-103878000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:103871000-103878600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:103871000-103883000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:103871000-103883200	Weak transcription	Aorta	Aorta
43	chr14:103871000-103883600	Strong transcription	Dnd41	blood
44	chr14:103871000-103884400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:103871200-103872200	Enhancers	Lung	lung
46	chr14:103871200-103872200	Enhancers	Ovary	ovary
47	chr14:103871200-103872200	Weak transcription	Pancreas	Pancrea
48	chr14:103871200-103872200	Weak transcription	Stomach Mucosa	stomach
49	chr14:103871200-103872200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr14:103871200-103872600	Strong transcription	Spleen	Spleen

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